CURRICULUM VITAE

 

Date Prepared:

June 21, 2016

Name:

Benjamin Michael Neale, Ph.D.

Office Address:

Analytic and Translational Genetics Unit

Massachusetts General Hospital

Simches Research Center

185 Cambridge Street, CPZN 6818

Boston, MA 02114

 

Work Phone:

(617) 643-5148

Work Email:

bneale@broadinstitute.org

Education

Year

Degree

Field of Study

Institution

09/2000-04/2001

 

Genetics

University of Chicago

09/2002-06/2004

Bs.C.

Genetics

Virginia Commonwealth University

10/2006-04/2009

Ph.D.

Human Genetics (Cathryn Lewis)

King’s College London, UK

 

Postdoctoral Training                              

Year(s)

Title

Specialty/Discipline

Institution

10/2006-04/2009

 

Human Genetics (Cathryn Lewis)

King’s College London, UK

                

Year(s)

Title

Specialty/Discipline

(Lab PI for postdoctoral research)

Institution

 

 

 

 

Faculty Academic Appointments

Year(s)

Academic Title

Department

Academic Institution

Year(s)

Academic Title

Department

Academic Institution

01/2011-11/2013

Instructor

Medicine

Harvard Medical School

11/2013-06/2016

Assistant Professor

Medicine

Harvard Medical School

 

Appointments at Hospitals/Affiliated Institutions

Year(s)

Position Title

Department (Division, if applicable)

Institution

 

Year(s)                

Position Title

Department

Institution

2009-12/2010

Research Scientist

Center for Human Genetic Res.

Massachusetts General Hospital

2009-2010

Associated Researcher

Medical and Population

Genetics (MPG)

Broad Institute

 

01/2011-

Assistant in Genetics

Medicine (Analytic and Translational Genetics Unit)

Massachusetts General Hospital

10/2013-

Associate Member

Medical and Population Genetics (MPG)

Broad Institute

01/2016-

Director of Population Genetics

Stanley Center for Psychiatric Research

Broad Institute

Other Professional Positions

Year(s)

Position Title

Institution

 

Year(s)

Position Title

Institution

1999

Summer Intern

VCU

2000-2001

Research Assistant to Nancy Cox

University of Chicago

2002-2003

Research Assistant to Pat Sullivan and

Ken Kendler

VCU

2003-2006

Research Worker to Pak Sham and

Phil Asherson

Institute of Psychiatry, King’s College London, UK

2007-2009

Visiting Student to Mark Daly

Massachusetts General Hospital

2008-2010

Statistical genetics consultant

SUNY Upstate Medical Center

2013-2014

Visiting Professor

Royal Netherlands Academy of Arts and Sciences, Amseterdam, The Netherlands

2016-

Associate Memeber

MCR Social, Genetic & Developmental Psychiatry Centre, King’s College, London, UK

2016-2018

Visiting Researcher

Institute for Molecular Medicine Finland

 

Major Administrative Leadership Positions

Local - Not Applicable

Year(s)

Position Title

Institution

 

 

 

Regional - Not Applicable

Year(s)

Position Title

Institution

 

 

 

National and International

Year(s)

Position Title

Institution (note if specific department)

 

Year(s)

Position Title

Institution

2010

Course Director

MRC Social, Genetics and Developmental Psychiatry Centre Summer School

2013

Course Director

International workshop on statistical              methodology for human genomic studies

 

Committee Service

Local - Not Applicable

Year(s) of

Membership

Name of Committee

Institution/Organization

Dates of Role(s)

Title of Role(s)

 

Year(s) of Membership

Name of Committee

Institution/Organization

 

Dates of Role(s)

Title of Role(s)

Regional - Not Applicable

Year(s) of

Membership

Name of Committee

Institution/Organization

Dates of Role(s)

Title of Role(s)

 

Year(s) of Membership

Name of Committee

Institution/Organization

 

Dates of Role(s)

Title of Role(s)

National and International

Year(s) of

Membership

Name of Committee

Institution/Organization

Dates of Role(s)

Title of Role(s)

 

Year(s) of Membership

Name of Committee

Institution/Organization

 

Dates of Role(s)

Title of Role(s)

2007-present

ADHD analysis committee

Psychiatric GWAS Consortium

 

                      

Chair

2007-present

Analytic Committee

Psychiatric GWAS Consortium

 

 

Member

2008-present

Tourette’s Consortium

Psychiatric GWAS Consortium

 

 

Member

2008-present

OCD GWAS Consortium

Psychiatric GWAS Consortium

 

 

Member

2009-present

Cross-disorder Committee

Psychiatric GWAS Consortium

 

 

Member

2014-present

Executive Committee

Behavior Genetics Associaion

 

 

Member

2015-present

Sequencing Working Group

Whole Genome Sequencing for Psychiatric Disorders Consortium

 

 

Chair

2015-present

Steering Committee

Psychiatric GWAS Consortium

 

 

Member

Professional Societies

Year(s) of

Membership

Society Name

 

Dates of Role(s)

Title of Role(s)

 

Year(s) of Membership

Society Name

 

 

Dates of Role(s)

Title of Role(s)

2005-present

Behavior Genetics Association

 

 

 

Associate Member

2005-present

Psychiatric Genetics

 

 

 

Associate Member

2008-present

American Society of Human Genetics

 

 

 

Member

2012-2014            

Behavior Genetics Association

 

 

 

Member at Large

Grant Review Activities                       

Year(s) of

Membership

Name of Committee

Institution/Organization

Dates of Role(s)

Title of Role(s)

 

Year(s) of Membership

Name of Committee

Institution/Organization

 

Date of Role(s)

Title of Role(s)

2011

General Review Committee

National Health and Medical Research Council

 

2011

Grant Reviewer

2012

Review Committee

Marsden Foundation

 

2012

Grant Reviewer

2012

X02

NCATS

 

2012

Grant Reviewer

2012

BGES

NIH

 

2012

Grant Reviewer

2013

VICI

The Netherlands Organisation for Scientific Research

 

2013

Grant Reviewer

2014

Developmental Biology Subcommittee

National Institute of Child Health and Human Development

 

2014

Grant Reviewer

2015

Broad Next 10

Broad Institute

 

2015

Grant Reviewer

2016

ENCODE Computational Analysis

National Human Genome Research Institute

 

2016

Grant Reviewer

Editorial Activities

Ad Hoc Reviewer

Nature

Cell

Nature Genetics

General Archives of Psychiatry

American Journal of Human Genetics

PLoS Genetics

PLoS Computational Biology

Genetic Epidemiology

Genome Research, Biological Psychiatry

Personality and Individual Differences

Human Genetics, Journal of Personality

Bioinformatics

European Journal of Human Genetics

American Journal Medical Genetics

Part B-Neuropsychiatric Genetics

Human Heredity

International Journal of Obesity

Statistics in Medicine

Twin Research and Human Genetics

   Other Editorial Roles

Year(s)

Role

Journal Name

2013

Guest Editor

PLoS Genetics

2014-2016

Editor

International Journal of Epidemiology

2015-2018

Associate Editor

American Journal of Human Genetics

Honors and Prizes

Year

Name of Honor/Prize

Awarding Organization

Achievement for which awarded

(if unclear from award title)

 

Year

Name of Honor/Prize

 Awarding Organization

Achievement

2010

Thompson Award

Behavior Genetics Association

Best student presentation

2011

ECIP Oral Award

World Congress of Psychiatric Genetics

Best early career investigator talk

2013                  

 

Martin Prize in Clinical Research

Executive Committee on Research

Most Outstanding Publication at MGH in clinical research

2013

Excellence and Achievement Award

Broad Institute

Excellence and achievement in Mentorship/Teaching/Training

2014

Theodore Reich Young Investigator Award

International Society of Psychiatric Genetics

Investigator under 40 years old with published work on psychiatric genetics that is of exceptional merit

2015

2nd Leena Peltonen Prize for Excellence in Human Genetics

Wellcome Trust Leena Peltonen School of Human Genomics

Award given every two years to an outstanding human geneticist at an

early stage of their independent careers.

 

Report of Funded and Unfunded Projects

Funding Information

Past

2009-2012

2/5-Elucidating the Genetic Architecture of Autism by Deep Genomic Sequencing

 

1R01MH089208

 

PI ($2,136,252)

 

We propose here an unprecedented partnership between expert large- scale sequencing centers (at the Baylor College of Medicine and the Broad Institute of MIT and Harvard) and a collaborative network of research labs focused on the genetics of autism (brought together by the Autism Genome Project and the Autism Consortium). These groups will work together to utilize dramatic new advances in DNA sequencing technology to reveal the genetic architecture of autism, first through a detailed examination of 1000 genes implicated by previous genetic studies or postulated to be functionally relevant, and later, as the technology continues to advance, through unbiased whole-genome sequencing.

 

 

2009-2011

Genotyping Quality Control and Imputation Analysis for the Psychiatric Genome-Wide Association Consortium

 

BROAD09GAIN0 NIH/NIMH

 

Co-Investigator

 

Supplement to Elucidating the Genetic Architecture of Autism by Deep Genomic Sequencing.

We propose here an unprecedented partnership between expert large- scale sequencing centers (at the Baylor College of Medicine and the Broad Institute of MIT and Harvard) and a collaborative network of research labs focused on the genetics of autism (brought together by the Autism Genome Project and the Autism Consortium). These groups will work together to utilize dramatic new advances in DNA sequencing technology to reveal the genetic architecture of autism, first through a detailed examination of 1000 genes implicated by previous genetic studies or postulated to be functionally relevant, and later, as the technology continues to advance, through unbiased whole-genome sequencing.

 

 

2008-2013

Gene-environment interactions in childhood conduct problems

 

5R01MH081813-02

 

PI of subcontract ($17,816)

 

The aims are to genotype a cohort of at risk children with developmental problems to understand the genetics basis of externalizing disorders.

 

 

2011-2013

Stanley Center for Research in Psychiatric Disease

 

Co-Investigator

 

The goal of this project is to discover new approaches to the pharmacological treatment of bipolar disorder, schizophrenia and major depression and to seek new quantitative tests to aid in the diagnosis and treatment of these disorders.

 

 

2014-2015

Familial ALS exome capture and genome sequencing collaboration

 

14-LGCA-180

 

PI ($115,000)

 

The primary goals of this work are to aggregate the existing exome and genome sequencing for Familial ALS and then provide integrated variant discovery, quality control and analysis.

2013-2015

Refining the Tourette syndrome phenotype across diagnoses to aid gene discovery

 

1R01MH096767-01A1

 

Co-Investigator

 

This proposed research leverages a large clinical and genetic dataset of individuals and families with Tourette Syndrome (TS) to identify heritable symptom-based phenotypes and conduct quantitative genome-wide association studies (qGWAS) with the ultimate goal of identifying genetic variants that contribute to TS susceptibility.

 

 

2012-2016

Quantifying the impact of rare mutations on ADHD

 

1R01MH094469

 

PI ($1,709,727)

 

The aims of this proposal are to conduct exome chip genotyping on publicly available the ADHD genetic resources, IMAGE and PUWMA projects.

 

Current

2011-2018

Gerstner Foundation

 

Foundation

 

PI ($2,768,991)

 

The aims of this proposal are to create a large-scale ADHD DNA resource and identify common and rare variants that predispose to ADHD.

 

2012-2017

2/4 Psychiatric GWAS Consortium: Genomic Follow-Up Next Gen Sequencing and

Genotyping

 

5U01MH094432-03

 

Co-Investigator

 

The aims of this proposal are to build on the already successful Psychiatric GWAS consortium's efforts aggregating genetic data for psychiatric illness. As additional work in the community is being conducted that expands the GWAS data and is beginning to generate sequencing data, further work is necessary to ensure that maximal value is extracted from these combined efforts.

 

2013-2017

The Stanley Medical Research Institute

 

Stanley Center for Research in Psychiatric Disease

 

PI ($217,488)

 

The goal of this project is to discover new approaches to the pharmacological treatment of bipolar disorder, schizophrenia and major depression and to seek new quantitative tests to aid in the diagnosis and treatment of these disorders.

 

2013-2017

Annotation and Interpretation of Loss-of-Function Polymorphisms in Human Genomes

 

5R01GM104371-01

 

Co-Investigator

 

This project supports the development new tools for the accurate identification of protein-coding loss-of-function (LoF) variants and their application to combined data-sets of tens of thousands of human exomes.

 

2013-2017

Statistical Methods for Studies of Rare Variants

 

PI of subcontract ($365,575)

 

The aims of this proposal are to develop methods to estimate heritability explained by rare variation; quantify the impact of de novo mutation; define methods of controlling population structure in rare variant association studies.

 

2013-2018

ADHD biotypes using genetic and imaging approaches

 

3R01MH099064-01

 

Investigator

 

The aims are to provide scientific input on study design, genotyping technologies, and analysis of genotyping data.

 

2014-2018

Patient-Centered Information Commons

 

1U54HG007963-01

 

Co-Investigator

 

This grant enables the construction of a “Patient Information Commons” for handling Big Data in the Healthcare system, focusing upon creating a network that allows linking patients and data across desperate systems, harmonizing nomenclature to enable queries across systems, and enabling distributed computation to make effective extraction of information from Big Data possible.  Several model diseases will be used as test cases to exercise the network and make new discoveries in genetics and human health.

 

2014-2018

Center for Genome Interpretation

 

1U54DK105566-01

 

PI ($8,075,338)

 

The Center will have three primary scientific goals. We will build novel tools to aggregate and harmonize genetic, functional genomic and phenotypic data, demonstrated on DNA and RNA sequencing data from over 100,000 individuals. We will develop new methods to integrate and analyze those data within robust statistical and computational frameworks that can be applied to both protein-coding and non-coding regions, and that run without human intervention at scale. Finally, we will create software, APIs and web portals that democratize access to these data so they can empower a broad spectrum of biomedical research.

 

2014-2018

2/2 Genomic strategies to identify high-impact psychiatric risk variants

 

1U01MH105666-01

 

Co-Investigator

 

Through whole genome sequencing of cases and controls, genome-level experimental studies of gene function, and a series of bioinformatic and statistical analyses, this project will elucidate this relationship by identifying genetic variants with a high impact on one or both disorders.

 

2014-2019

Neuropsychiatric genome-scale and RDOC individualized domains (N-GRID)

 

1P50MH106933-01

 

Co-Investigator

 

The goal of this study is to build and characterize a large cellular biobank incorporating fibroblasts and derived neuronal precursor cells (NPC’s) at the molecular level. In parallel, novel means of dimensional phenotyping using electronic health records will be used to recruit additional subjects to ensure adequate sampling of a generalizable clinical population. Detailed clinical phenotyping will be correlated with phenotypes in induced neuronal models of neuropsychiatric disease, and used to examine the effects of common and rare genetic variants.

 

2015-2019

Genetics of Cardiotoxic Drug Response to Psychiatric Therapy

 

1R01HL124262-01A1

 

Co-Investigator

 

The main goals of this project are to assess the role of common genetic variants in extremes of QT interval in inpatients and outpatients, conduct genotype-directed study of cardiotoxic drug response, and assess role of common QT SNPs on QT response to psychiatric therapies.

 

2015-2019

Genetic & Environmental Predictors of Tourette Syndrome & OCD in Denmark

 

1R01MH105500-01

 

PI ($587,986)

 

Direct the accurate and timely PsychChip genotyping of 6,500 DNA samples from Denmark.

 

2015-2018

Methods for linking GWAS peaks to function in psychiatric disease

 

1R01MH107649-01

 

PI (471,282)

 

Our specific aims are to partition psychiatric disease heritability by functional category. We propose to understand at a global level the relative importance of different classes of variation in explaining heritability of mental illness. We aim to maximize biological inferences from expression data in brain tissues. We propose to extend current methods for the processing and analysis of RNA-sequencing data to improve identification of quantitative trait loci that influence expression levels and splicing diversity. We aim to use prioritized functional categories and QTLs to fine-map genome-wide significant loci. We will integrate the results of aims 1 and 2 to more thoroughly understand which genetic variants drive genome-wide significant associations to mental illness. We will guide our research using >200,000 samples from genome-wide associations studies of psychiatric disease. The methods we propose to develop will be implemented in software packages that we will make widely available to the community.

 

 

 

Current Unfunded Projects

2015-2020

Genes, Environment, Family and Mental Health

 

R01MH105419

 

Co-Investigator

 

This project will dramatically advance what is known about how the local community and genetic endowments shape mental health and families. This information will advance policies and services designed to reduce psychiatric disorders, support families and improve health.

Year(s) funded

Role on Project/ Title of Project

 

 

One sentence description of the purpose of the project

 

 

 

Report of Local Teaching and Training

Teaching of Students in Courses

Year(s)

Course Title

Location

 

Type of student/audience

Level of Effort

Formal Teaching of Residents, Clinical Fellows and Research Fellows (post-docs)                                                     

 

Year(s)

Course Title

Location

 

Type of student/audience

Level of Effort

2009-present

Genetic Literacy Course

Clinical Research Program, MGH

 

Clinical and Research Fellows

1 hr. lecture

2010

Psychiatric Genetics and Translational Research Seminar

Clinical Research Program, MGH

 

Clinical and Research Fellows

1 hr. lecture

Clinical Supervisory and Training Responsibilities- Not Applicable

Laboratory and Other Research Supervisory and Training Responsibilities

 

Year(s)

Type of responsibility

Level of Effort

2010-2011

Supervision of MIT 2 UROP Students/ Broad Institute of Harvard and MIT

Weekly Mentorship for 12 months

2011-present

Computational Biologist/Broad

Daily Mentorship

2011-present

Joint supervision BBS PhD Student

Weekly Mentorship

2011-present

Joint supervision BBS PhD Student

Daily Mentorship

2011-present

Joint supervision BBS PhD Student

Bi-Weekly Mentorship

2014

HMS Student/Summer Research Program in Genomics/ Broad Institute of Harvard and MIT

Weekly Mentorship for 9 weeks

2015

Supervision of Hong Kong University PhD Student

Weekly Mentorship for 4 months

2015

Supervision of University of Pavia PhD Student

Weekly Mentorship for 5 months

2015

Supervision of Stanford University PhD Student

Weekly Mentorship for 7 weeks

Formally Supervised Trainees  

Year(s)

Name and Degree/Current Position

2010-2012

Elizabeth Rossin, PhD/Currently Medical Student HMS

 

Provided guidance for fellowship application and statistical training

2011

Geoffrey Walffod, MD/ MGH

 

Published paper in Diabetologia

2011-2015

*Gina Peloso, PhD /Currently Assistant Professor at Boston University

 

Weekly mentorship on statistical methodology for rare variant analysis, submitted paper in Bioinformatics

2011-2015

*Ron Do, PhD / Currently Assistant Professor, Mount Sinai Hospital

 

Mentorship on statistical methodods on risk prediction and Mendelian randomization, submitted publication in Nature Genetics

2012-2013

*Elise Robinson, SciD / Currently Instructor in Medicine HMS

 

Provided guidance for NIH application and methods for genomics

2012-present

Timo Verneri Anttila, PhD / Research Fellow in the Analytic and Translational Genetics Unit

 

Daily interactions, mentorship in statistical methodology

2012-present

Daniel Howrigan, PhD / Research Fellow in the Analytic and Translational Genetics Unit

 

Daily interactions, mentorship in statistical methodology

2012-2013

Fawn Leigh, MD / Currently Instructor in Neurology, MGH

 

Provided mentorship on pending grant application

2012-2015

Kai How Farh, MD, PhD Childrens Hospital Boston

 

Mentorship on grant application writing for NIH F32

2014-present

Andrea Byrnes, PhD / Research Fellow in the Analytic and Translational Genetics Unit

 

Daily interactions, mentorship in statistical methodology

2014-present

Raymond Walters, PhD / Research Fellow in the Analytic and Translational Genetics Unit

 

Daily interactions, mentorship in statistical methodology

2014-present

Chia-Yen Chen, PhD / Research Fellow in the Analytic and Translational Genetics Unit

 

Daily interactions, mentorship in statistical methodology

2015-present

Andrea Ganna, PhD / Research Fellow in the Analytic and Translational Genetics Unit

 

Daily interactions, mentorship in statistical methodology

2015-2016

Joanna Martin, PhD / Currently Research Fellow from Cardiff University

 

Daily interactions, mentorship in statistical methodology

2016-present

Duncan Palmer, PhD/ Research Fellow in the Analytic and Translational Genetics Unit

 

Daily interactions, mentorship in statistical methodology

*Jointly mentored by Benjamin Neale and Mark Daly

Formal Teaching of Peers (e.g., CME and other continuing education courses)- Not Applicable

Local Invited Presentations

No Presentations below were sponsored by outside entities

 

2008

ADHD GWAS

 

Center for Human Genetic Research Seminar, MGH

2009

Polygenic Prediction in ADHD

 

Center for Human Genetic Research Seminar, MGH

2010

Testing for an unusual distribution of variation

 

Center for Human Genetic Research Seminar, MGH

2010

De novo variation in autism, Presenter

 

Stanley Center Genetics, Cambridge MA

2011

Autism Exome Sequencing, Presenter

 

Medical and Population Genetics at Broad Institute, Cambridge MA

2011

Statistical issues with the analysis of rare variation, Presenter

 

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA

2012

Progress in assaying the human genome for psychiatric disease

 

Computational Biology and Bioinformatics, Broad Institute Cambridge MA

2012

Design and analysis of the exome chip to determine the role of rare coding variation in schizophrenia

 

Medical and Population Genetics, Broad Institute of MIT and Harvard

2012

Leveraging PPI data to elucidate de novo mutation in psychiatric disease

 

Medical and Population Genetics, Broad Institute of MIT and Harvard

2013

Polygenic inheritance in psychiatric disease

 

Medical and Population Genetics, Broad Institute of MIT and Harvard

2013

Design of PsychChip and analysis of rare coding variation in schizophrenia

 

Symposium on Emerging Genetics and Neurobiology of Severe Mental Illness, Broad Institute of MIT and Harvard

2014

Biometrical Model

Association Testing

 

Statistical Genetics BroadE Workshop Spring, Broad Institute of MIT and Harvard

2014

Focus on Schizophrenia and Bipolar Disorder and Association Study Methodology

 

Biological and Biomedical Sciences Courses at Massachusetts General Hospital, Boston, MA

2014

Progress in Psychiatric Genetics

 

Center for Human Genetic Research Retreat, Massachusetts General Hospital, Boston, MA

2014

De novo mutations in schizophrenia and autism

 

Stanley Center Scientific Advisory Board Meeting, Broad Institute, Cambridge, MA

2014

Sequencing-based association studies of complex diseases

 

Massachusetts General Hospital Clinical Research Program/Harvard Catalyst, Boston, MA

2014

Investigation

 

Academic Career Advancement Seminar Series, Massachusetts General Hospital, Boston, MA

2014

Progress in psychiatric genetics

 

Midsummer Nights’ Science Lecture, Broad Institute of MIT and Harvard

2014

Biometrical Model

Association Testing

 

Statistical Genetics BroadE Workshop Fall, Broad Institute of MIT and Harvard

2014

A framework for the interpretation of de novo mutation in human disease

 

Simon Center for the Social Brain Coffee Hour, Massachusetts Institute of Technology, Cambridge, MA

2014

Guest Lecturer

 

EPI507 Genetic Epidemiology Harvard School of Public Health, Cambridge, MA

2014

Global collaboration drives forward progress in psychiatric genetics

 

Massachusetts General Hospital Division of Global Psychiatry Monthly Dinner, Boston, MA

2015

Biometrical Model

Association Testing

 

Statistical Genetics BroadE Workshop, Broad Institute of MIT and Harvard

2015

GEN 228- Genetics in Medicine- from Bench to Bedside

 

Biological and Biomedical Sciences Courses at Massachusetts General Hospital, Boston, MA

2015

Leveraging genome-wide association data to gain insight into the structure of clinical phenotypes

 

Computational Biology and Bioinformatics Organization, Broad Institute, Cambridge, MA

2015

Common variation: results and plans

 

Stanley Center Scientific Advisory Board Meeting, Broad Institute, Cambridge, MA

2015

Sequencing and rare variant analysis

 

Harvard Catalyst and Massachusetts General Hospital Clinical Research Program, Boston, MA

2015

Biometrical Model

Association Testing

 

Statistical Genetics BroadE Workshop, Broad Institute of MIT and Harvard

2015

Sequencing-based association studies of complex diseases

 

Harvard Catalyst and Massachusetts General Hospital Clinical Research Program, Boston, MA

2015

Genetic influences on ASD across the frequency spectrum

 

Simons Center for the Social Brain at MIT, Cambridge, MA

2016

Biometrical Model

Association Testing

 

Statistical Genetics BroadE Workshop, Broad Institute of MIT and Harvard

 

Report of Regional, National and International Invited Teaching and Presentations

Those presentations below sponsored by outside entities are so noted and the sponsor(s) is (are) identified.

Invited Presentations and Courses

Regional – Not Applicable

 

 

 

National

 

2003-present

International Twin Workshop on Methodology of Twin and Family Studies

 

Institute of Behavior Genetics, Boulder, CO held annually

2007

Population Differences in IMAGE Sample

 

Oxford Biostatistics Group, Oxford, UK

2007

Genome-wide Association of GAIN Sample

 

GAIN Information Network, Washington, DC

2007

Association Methods

 

ADHD Gene Meeting, Sanibel, FL

2008

Overview of Genome-wide Imputation

 

CDC NHANES Project, Boston, MA

2008

Efficacy of Imputation Methods

 

Wellcome Trust Center for Human Genetics, Oxford, UK

2008-present

Lecturer at CSHL Course on Genetics of Complex Human Disease

 

Cold Spring Harbor Laboratory, New York, NY

2008

GAIN GWAS of ADHD

 

ADHD Gene Meeting, Sanibel, FL

2009

 

Moderated Session entitled “The Genetic Architecture of Common Complex Disease: Beyond

Genome-wide Association”

 

American Society of Human Genetics, Honolulu, HI

2009

Imputation Methodology Bake-off

 

Gene, Environment Association Studies Consortium, Washington, DC

2009

Meta-analysis of ADHD GWAS on behalf of the ADHD PGC

 

World Congress of Psychiatric Genetics, San Diego, CA

2009

Comparing Imputation Methods

 

Genome-wide Association Research Network into Effects of Treatment Conference, Washington, DC

2009

Meta-analysis of ADHD GWAS

 

ADHD Gene Meeting, Sanibel, FL

2011

Autism sequencing, Presenter

 

Molecular Genetics of Psychiatry, Park City, UT

2012

Processing and analysis of sequencing data

 

Familial ALS genetics meeting, Chicago, IL

2012

Statistical methods for analyzing rare variants.

 

Cold Spring Harbor Laboratory, New York, NY

2013

What rare coding variation reveals about the genetics of psychiatric illness

 

Molecular Psychiatry meeting, Park City, UT

2013

GWAS: Power and meta-analyisis (Metal)

Sequencing: Introduction to data generation and study design

Sequencing: Rare variant Testing approaches

PSEQ Practical

Sequencing: New topics in sequencing

Sequencing: De novo mutation

 

Institute of Behavioral Genetics 2013 Workshop, Boulder, CO

2013

Introduction to the Analysis of Rare Variants: Study Designs and Testing Approaches

 

World Congress of Psychiatric Genetics, Boston, MA

2013

Analysis of Rare Coding Variation in a Sample of 10,000 Cases of Attention Deficit/Hyperactivity Disorder and Controls

 

World Congress of Psychiatric Genetics, Boston, MA

2013

The Genomics of Autism Spectrum Disorders

 

World Congress of Psychiatric Genetics, Boston, MA

2013

Rare variant association studies: What population genetics models teach us about power and study design

 

American Society of Human Genetics, Boston, MA

2013

Design of rare variant association studies: what population genetics can teach us about power and study design

 

UCLA Bioinformatics Seminar Series, Los Angeles, CA

2013

PGC2 SCZ GWAS Why we think it’s relevant II

 

Psychiatric Genomics, Cold Spring Harbor, NY

2014

Introduction to R

Power

 

Institute of Behavioral Genetics 2014 Workshop, Boulder, CO

2014

How persistence succeeded in the GWAS of schizophrenia

 

University of Chicago, Genetics, Genomics and Systems Biology Symposium, Chicago, IL

2014

Methodological developments in the analysis of genetic data: Examples from psychiatric illness

 

Genome Seminar Series, National Human Genome Research Institute, Bethesda, MD

2014

Exome arrays and imputation

 

Genetics of Complex Human Diseases, Cold Spring Harbor Laboratory, New York, NY

2014

Workshop Co-Organizer: Best Practices for Variant Discovery with the GATK

 

American Society of Human Genetics, San Diego, CA

2014

Session Chair: Childhood Genetics

 

2nd Annual Molecular Psychiatry Meeting, San Francisco, CA

2014

Establishing the Role of Common Variation in risk to Attention Deficit/Hyperactivity Disorder

 

2nd Annual Molecular Psychiatry Meeting, San Francisco, CA

2014

How results from large scale genetic analysis inform on disease

 

Center for Bioinformatics and Computational Biology at the University of Delaware

2015

Common and Rare Genetic Influences on Psychiatric Illness

 

Molecular Psychiatry Meeting, Park City, UT

2015

Advanced Gene Mapping Course

 

The Rockefeller University, New York

2015

Developing analytical and process standards, Panelist

 

FDA Workshop, Bethesda, MD

2015

GWAS: Power and meta-analysis (Metal)

Intro to Sequencing: study design and data generation

Sequencing: Rare variant testing approaches

PSEQ practical

Sequencing: De novo mutation and gene constraint

 

Institute for Behavioral Genetics Workshop, Boulder, CO

2015

Progress in Psychiatric Genetics

 

Psychiatry Grand Rounds at University of Chicago, IL

2015

Common variation reveals the structure of clinical phenotypes

 

Yale School of Medicine, New Haven, CT

2015

LD Score: an approach to interpret the polygenic contribution of common variation

 

New England Statistical Symposium, University of Connecticut, Storrs, CT

2015

Progress in Psychiatric Genetics for a title, Keynote Speaker

 

Pfizer Omics Network, Cambridge, MA

2015

Leveraging genome-wide association analysis to estimate genetic correlation

 

Behavior Genetics Association Annual meeting, San Diego, CA

2015

Common Variation Reveals the Structure of Clinical Phenotypes

 

Gordon Research Conderence, Salva Regina, RI

2015

Using linkage disequilibrium to understand the polygenic architecture of disease

 

Washington University, St. Louis, MO

2015

ASHG/IGES Symposium: Prospecting for hidden heritability: undiscovered nuggets or fool’s gold?

 

American Society of Human Genetics, Baltimore, MD

2015

Leveraging Genome Data in Psychiatric Illness

 

Society for Neuroscience Short Course, Chicago, IL

2015

SNP-based Heritability Estimating -Alternative Methods Does heritability estimated from SNP’s match that from twins?

 

Advanced Genetic Epidemiology Statistical Workshop, Richmond, VA

2016

Emerging results from PsychChip: Mapping the contribution of common variation to psychiatric disorders

 

Park City Translational Psychiatry Meeting, Park City, UT

2016

Panelist: Virtual Symposium on Translational Neuroscience

 

Keystone Symposia on Molecular & Cellular Biology, Cambridge, MA

2016

Methodological advances in the analysis of genetic data

 

National Cancer Institute -Biostatistics Branch Seminar Series, Washington, DC

2016

Developments in the methods of analysis of genetic data

 

University of California at Los Angeles-Neurobehavioral Genetics Retreat, Santa Monica, CA

International

 

2005-present

Lecturer at SGDP Summer School, London, UK

 

Institute of Psychiatry, King’s College, London, UK

2006

Preliminary results from population differences comparisons in IMAGE

 

World Congress of Psychiatric Genetics, Cagliari, Italy

2007

Genome-wide Association and Practical Application of PLINK

 

Vrije Universitiet, Amsterdam, The Netherlands

2008

Genome-wide association analysis of TS and OCD

 

OCD GWAS meeting, Lake Como, Italy

2010

Testing for an unusual distribution of rare variation

 

World Congress of Psychiatric Genetics, Athens, Greece

2010

Testing for Unusual Distribution of Rare Variation, Presenter,

 

Behavioral Genetics Association, Seoul, Korea

2012

Design and analysis of the exome chip to determine the role of rare coding variation in schizophrenia (Wellcome Trust Nature Genetics)

 

Genomics of Common Disease, Washington DC

2012

Presented on exome chip analysis of schizophrenia

 

World Congress of Psychiatric Genetics, Hamburg, Germany

2012

What rare coding variation reveals about the genetics of psychiatric illness (Lecture)

 

Helsinki University, Biomedicum Center, Helsinki, Finland

2012

Analytic issues associated with rare variant testing

 

Helsinki University, Human Genetics Methods Seminar talk, Helsinki, Finland

2013

Rare variant analysis for psychiatric traits at the Frontiers in Genomic Medicine

 

Tokyo University, Tokyo Japan                            

2013

Genetics of Autism

 

Endo-Neuro-Psycho Meeting Amsterdam, Netherlands

2013

An overview of the genetic landscape of autism

 

Psychiatric Genetic Epidemiology Symposium, Stockholm, Sweden

2013

Progress in Psychiatric Genetics

 

University of Hong Kong, Pokfulam, Hong Kong

2014

Developments in the genetic analysis of complex traits

 

Institute for Molecular Medicine Finland, Helsinki, Finland

2014

Genetics of mental disorders: recent findings and novel methods

 

12th Dutch Endo-Neuro-Psycho Meeting, Lunteren, The Netherlands

2014

Introduction to next generation sequencing and rare variant analysis

 

VU University, Amsterdam, The Netherlands

2014

Common and rare genetic influences in schizophrenia

 

Sequencing initiative Suomi (SISU) Symposium, Institute for Molecular Medicine, Finland

2014

Genetics of Complex Disease

 

University of Eastern Finland Bioinformatics Center Kuopio, Finland

2014

Leveraging genetic results to understand the biological relationships between multiple correlated phenotypes

 

Integrative Epidemiology Unit Seminar Series, University of Bristol, United Kingdom

2014

Genome-wide Association Meta-analysis of ADHD

 

World Congress of Psychiatric Genetics, Copenhagen, Denmark

2015

Leveraging genome-wide association data to gain insight into the structure of clinical phenotypes

 

Bio-X Institutes, Shanghai, China

2015

Leveraging genome-wide association data to gain insight into the structure of clinical phenotypes

 

Nature Genetics: Genomic Variations in Precision Medicine 2015, Changsha, Hunan, China

2015

Extracting insights from large-scale genetic data

 

University of Hong Kong, Pokfulam, Hong Kong

2015

Leveraging common variation analysis to understand the structure of phenotypes/Keynote Presentation

 

GeneMappers 2015 Conference, Perth Australia

2016

What's coming in complex trait genetics

 

Banff International Research Station for Mathematical Innovation and Discovery (BIRS), Banff, Canada

2016

ADHD in children: a breakthrough in gene finding

 

Symposium: Genetics of ADHD & Addiction, VU University, Amsterdam

Report of Clinical Activities and Innovations - Not Applicable

Current Licensure and Certification

Year

Type of License or Certification

Practice Activities

List all clinical activities, both those at Harvard and its affiliates and those outside Harvard, and for each indicate:

Year(s)

Type of activity

Name and location of practice

Level of activity

If you have no current clinical activities, but have practiced in the past you may provide a brief (1-2 sentence) description of those prior activities

Clinical Innovations

Report of Technological and Other Scientific Innovations - Not Applicable

 

Name of clinical innovation

Describe the influence or potential influence of the innovation on clinical care or practice management, including how the innovation is used or has been implemented locally (at HMS), regionally, nationally or internationally; if developed as a member of a committee, describe your contribution (1-2 sentences)

 

Report of Education of Patients and Service to the Community - Not Applicable

Activities

May include a brief, one-sentence description of each role if needed (optional)

Year(s)

Organization or institution / Role (Sponsor, if any)

 

One sentence description (optional)

Educational Material for Patients and the Lay Community - Not Applicable

Group materials (in print or other media) into three categories

Books, monographs, articles and presentations in other media

Year

Title

Type of contribution (Sponsor, if any)

Citation, if any

 

Educational material or curricula developed for non-professional students

Year

Title

Type of contribution (Sponsor, if any)

Citation, if any

 

Patient educational material

Year

Title

Type of contribution (Sponsor, if any)

Citation, if any

 

Recognition - Not Applicable

Year(s)

Name of award/recognition

Organization conferring recognition

Report of Scholarship

Publications

1.     Neale MC, Neale BM, Sullivan PF. “Nonpaternity in linkage studies of extremely discordant sib pairs”. American Journal of Human Genetics. 2002 Feb;70(2):526-9. PMCID: PMC384925.

 

2.     Sullivan PF, Neale BM, Neale MC, van den Oord E, Kendler KS “Multipoint and single point non parametric linkage analysis with imperfect data”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2003 Aug 15;121B(1):89-94. PMID: 12898581.

 

3.     Neale BM, Mazzeo SE, Bulik CM “A twin study of dietary restraint, disinhibition and hunger: an examination of the eating inventory (three factor eating questionnaire)”. Twin Research. 2003 Dec;6(6):471-8 PMID: 14965456.

 

4.     Sullivan PF, Neale BM, van den Oord E, Miles MF, Neale MC, Bulik CM, Joyce PR, Straub RE, Kendler KS. “Candidate genes for nicotine dependence via linkage, epistasis, and bioinformatics”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2004 Apr 1;126B(1):23-36. PMID: 15048644.

 

5.     Thiselton DL, Webb BT, Neale BM, Ribble RC, O'Neill FA, Walsh D, Riley BP, Kendler KS. “No evidence for linkage or association of neuregulin-1 (NRG1) with disease in the Irish study of high-density schizophrenia families (ISHDSF)”. Molecular Psychiatry. 2004 Aug;9(8):777-83; image 729. PMID: 15197397.

 

6.     Tozzi F, Aggen SH, Neale BM, Anderson CB, Mazzeo SE, Neale MC, Bulik CM. “The structure of perfectionism: a twin study”. Behavior Genetics. 2004 Sep,34(5):483-494. PMID: 15319571.

7.     Neale BM, Sham PC “The future of association studies: gene-based analysis and replication”. American Journal of Human Genetics. 2004 Sep;75(3):353-62. PMCID: PMC1182015.

 

8.     Neale BM, Sullivan PF, Kendler KS. “A genome scan of neuroticism in nicotine dependent smokers”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2005 Jan 5;132B(1):65-9. PMID: 15389754.

 

9.     Williamson RJ, Neale BM, Sterne A, Prince M, Sham P. “The value of four mental health self-report scales in predicting interview-based mood and anxiety disorder diagnoses in sibling pairs”. Twin Research and Human Genetics. 2005 Apr;8(2):101-7. PMID: 15901472.

 

10.  Keski-Rahkonen A, Neale BM, Bulik CM, Pietilainen KH, Rose RJ, Kaprio J, Rissanen A. “Intentional weight loss in young adults: sex-specific genetic and environmental effects”. Obesity Research. 2005 Apr;13(4):745-53. PMID: 15897484.

 

11.  Keski-Rahkonen A, Bulik CM, Neale BM, Rose RJ, Rissanen A, Kaprio J. “Body dissatisfaction and drive for thinness in young adult twins”. Interntational Journal of Eating Disorders. 2005 Apr;37(3):188-99. PMID: 15822080.

 

12.  Neale BM, Rijsdijk FV. “ Further considerations for power in sibling interaction models”. Behavioral Genetics. 2005 Sep;35(5):671-4. doi: 10.1007/s10519-005-5878-0. PMID: 16184493.

 

13.  Curran S, Powell J, Neale BM, Dworzynski K, Li T, Murphy D, Bolton PF. “An association analysis of candidate genes on chromosome 15 q11-13 and autism spectrum disorder”. Molecular Psychiatry. 2006 Aug;11(8):709-13. doi: 10.1038/sj.mp.4001839. PMID: 16868570.

 

14.  Kuntsi J, Neale BM, Chen W, Faraone SV, Asherson P.  “The IMAGE project: methodological issues for the molecular genetic analysis of ADHD”. Behavioral and Brain Functions. 2006 Aug 3;2:27. PMCID: PMC1559631.

 

15.  Brookes K, Xu X, Chen W, Zhou K, Neale B, Lowe N, Anney R, Franke B, Gill M, Ebstein R, Buitelaar J, Sham P, Campbell D, Knight J, Andreou P, Altink M, Arnold R, Boer F, Buschgens C, Butler L, Christiansen H, Feldman L, Fleischman K, Fliers E, Howe-Forbes R, Goldfarb A, Heise A, Gabriëls I, Korn-Lubetzki I, Johansson L, Marco R, Medad S, Minderaa R, Mulas F, Müller U, Mulligan A, Rabin K, Rommelse N, Sethna V, Sorohan J, Uebel H, Psychogiou L, Weeks A, Barrett R, Craig I, Banaschewski T, Sonuga-Barke E, Eisenberg J, Kuntsi J, Manor I, McGuffin P, Miranda A, Oades RD, Plomin R, Roeyers H, Rothenberger A, Sergeant J, Steinhausen HC, Taylor E, Thompson M, Faraone SV, Asherson P. “The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes”. Molecular Psychiatry. 2006 Oct;11(10):934-53. doi: 10.1038/sj.mp.4001869. PMID: 16894395.

 

16.  O'Gara C, Stapleton J, Sutherland G, Guindalini C, Neale B, Breen G, Ball D. “Dopamine transporter polymorphisms are associated with short-term response to smoking cessation treatment”. Pharmacogenetics and Genomics. 2007 Jan;17(1):61-7. doi: 10.1097/01.fpc.0000236328.18928.4c. PMID: 17264803.

 

17.  Fogh I, Rijsdijk F, Andersen PM, Sham PC, Knight J, Neale B, McKenna-Yasek D, Silani V, Brown RH Jr, Powell JF, Al-Chalabi A. “Age at onset in sod1 mediated amyotrophic lateral sclerosis shows familiality”. Neurogenetics. 2007 Aug;8(3):235-6. doi: 10.1007/s10048-007-0092-2. PubMed PMID: 17549529.

 

18.  Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. “PLINK: a tool set for whole-genome association and population-based linkage analyses”. American Journal of Human Genetics. 2007 Sep;81(3):559-75 PMCID: PMC1950838.

 

19.  Maller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ, Seddon JM. “Variation in complement factor 3 is associated with risk of age-related macular degeneration”. Nature Genetics. 2007 Oct;39(10):1200-1. doi: 10.1038/ng2131. PMID: 17767156.

 

20.  Plenge RM, Cotsapas C, Davies L, Price AL, de Bakker PI, Maller J, Pe'er I, Burtt NP, Blumenstiel B, DeFelice M, Parkin M, Barry R, Winslow W, Healy C, Graham RR, Neale BM, Izmailova E, Roubenoff R, Parker AN, Glass R, Karlson EW, Maher N, Hafler DA, Lee DM, Seldin MF, Remmers EF, Lee AT, Padyukov L, Alfredsson L, Coblyn J, Weinblatt ME, Gabriel SB, Purcell S, Klareskog L, Gregersen PK, Shadick NA, Daly MJ, Altshuler D. “Two independent alleles at 6q23 associated with risk of rheumatoid arthritis”. Nature Genetics. 2007 Dec;39(12):1477-82. PMCID: PMC2652744.

 

21.  Andreou P, Neale BM, Chen W, Christiansen H, Gabriels I, Heise A, Meidad S, Muller UC, Uebel H, Banaschewski T, Manor I, Oades R, Roeyers H, Rothenberger A, Sham P, Steinhausen HC, Asherson P, Kuntsi J. “Reaction time performance in ADHD: improvement under fast-incentive condition and familial effects”. Psychological Medicine. 2007 Dec;37(12):1703-15. doi: 10.1017/S0033291707000815. PMCID: PMC3770126.

 

22.  Brookes KJ, Neale BM, Sugden K, Khan N, Asherson P, D'Souza UM. “Relationship between VNTR polymorphisms of the human dopamine transporter gene and expression in post-mortem midbrain tissue”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2007 Dec 5;144B(8):1070-8. doi: 10.1002/ajmg.b.30572. PMID: 17579365.

 

23.  O'Gara C, Knight J, Stapleton J, Luty J, Neale B, Nash M, Heuzo-Diaz P, Hoda F, Cohen S, Sutherland G, Collier D, Sham P, Ball D, McGuffin P, Craig I. “Association of the serotonin transporter gene, neuroticism and smoking behaviours”. Journal of Human Genetics. 2008;53(3):239-46. doi: 10.1007/s10038-007-0243-1. PMID: 18188666.

 

24.  Brookes KJ, Neale B, Xu X, Thapar A, Gill M, Langley K, Hawi Z, Mill J, Taylor E, Franke B, Chen W, Ebstein R, Buitelaar J, Banaschewski T, Sonuga-Barke E, Eisenberg J, Manor I, Miranda A, Oades RD, Roeyers H, Rothenberger A, Sergeant J, Steinhausen HC, Faraone SV, Asherson P. “Differential dopamine receptor D4 allele association with ADHD dependent of proband season of birth”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2008 Jan 5;147B(1):94-9. doi: 10.1002/ajmg.b.30562. PMID: 17525975.

 

25.  Neale BM, Sham PC, Purcell S, Banaschewski T, Buitelaar J, Franke B, Sonuga-Barke E, Ebstein R, Eisenberg J, Mulligan A, Gill M, Manor I, Miranda A, Mulas F, Oades RD, Roeyers H, Rothenberger A, Sergeant J, Steinhausen HC, Taylor E, Thompson M, Chen W, Zhou K, Asherson P, Faraone SV. “Population differences in the International Multi-Centre ADHD Gene Project”. Genetic Epidemiology. 2008 Feb;32(2):98-107. doi: 10.1002/gepi.20265. PMID: 17868146.

 

26.  Asherson P, Zhou K, Anney RJ, Franke B, Buitelaar J, Ebstein R, Gill M, Altink M, Arnold R, Boer F, Brookes K, Buschgens C, Butler L, Cambell D, Chen W, Christiansen H, Feldman L, Fleischman K, Fliers E, Howe-Forbes R, Goldfarb A, Heise A, Gabriëls I, Johansson L, Lubetzki I, Marco R, Medad S, Minderaa R, Mulas F, Müller U, Mulligan A, Neale B, Rijsdijk F, Rabin K, Rommelse N, Sethna V, Sorohan J, Uebel H, Psychogiou L, Weeks A, Barrett R, Xu X, Banaschewski T, Sonuga-Barke E, Eisenberg J, Manor I, Miranda A, Oades RD, Roeyers H, Rothenberger A, Sergeant J, Steinhausen HC, Taylor E, Thompson M, Faraone SV. “A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16”. Molecular Psychiatry. 2008 May;13(5):514-21. doi: 10.1038/sj.mp.4002140. PMID: 18180756.

 

27.  Raychaudhuri S, Remmers EF, Lee AT, Hackett R, Guiducci C, Burtt NP, Gianniny L, Korman BD, Padyukov L, Kurreeman FA, Chang M, Catanese JJ, Ding B, Wong S, van der Helm-van Mil AH, Neale BM, Coblyn J, Cui J, Tak PP, Wolbink GJ, Crusius JB, van der Horst-Bruinsma IE, Criswell LA, Amos CI, Seldin MF, Kastner DL, Ardlie KG, Alfredsson L, Costenbader KH, Altshuler D, Huizinga TW, Shadick NA, Weinblatt ME, de Vries N, Worthington J, Seielstad M, Toes RE, Karlson EW, Begovich AB, Klareskog L, Gregersen PK, Daly MJ, Plenge RM. “Common variants at CD40 and other loci confer risk of rheumatoid arthritis”. Nature Genetics. 2008 Oct;40(10):1216-23. doi: 10.1038/ng.233. PMCID: PMC2757650.

 

28.  Zhou K, Asherson P, Sham P, Franke B, Anney RJ, Buitelaar J, Ebstein R, Gill M, Brookes K, Buschgens C, Campbell D, Chen W, Christiansen H, Fliers E, Gabriëls I, Johansson L, Marco R, Mulas F, Müller U, Mulligan A, Neale BM, Rijsdijk F, Rommelse N, Uebel H, Psychogiou L, Xu X, Banaschewski T, Sonuga-Barke E, Eisenberg J, Manor I, Miranda A, Oades RD, Roeyers H, Rothenberger A, Sergeant J, Steinhausen HC, Taylor E, Thompson M, Faraone SV. “Linkage to chromosome 1p36 for attention-deficit/hyperactivity disorder traits in school and home settings”. Biological Psychiatry. 2008 Oct 1;64(7):571-6. doi: 10.1016/j.biopsych.2008.02.024. PMCID: PMC3589988.

 

29.  de Bakker PI, Ferreira MA, Jia X, Neale BM, Raychaudhuri S, Voight BF. “Practical aspects of imputation-driven meta-analysis of genome-wide association studies”. Humuan Molecular Genetics. 2008 Oct 15;17(R2):R122-8. doi: 10.1093/hmg/ddn288. PMCID: PMC2782358.

 

30.  Neale BM, Lasky-Su J, Anney R, Franke B, Zhou K, Maller JB, Vasquez AA, Asherson P, Chen W, Banaschewski T, Buitelaar J, Ebstein R, Gill M, Miranda A, Oades RD, Roeyers H, Rothenberger A, Sergeant J, Steinhausen HC, Sonuga-Barke E, Mulas F, Taylor E, Laird N, Lange C, Daly M, Faraone SV. “Genome-wide association scan of attention deficit hyperactivity disorder”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2008 Dec 5;147B(8):1337-44. doi: 10.1002/ajmg.b.30866. PMCID: PMC2831205.

 

31.  Neale BM, Faraone SV. “ Perspective on the genetics of attention deficit/hyperactivity disorder”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 147B: 1334-1336. PMID: 18951432.

 

32.  Anney RJ, Lasky-Su J, O'Dushlaine C, Kenny E, Neale BM, Mulligan A, Franke B, Zhou K, Chen W, Christiansen H, Arias-Vásquez A, Banaschewski T, Buitelaar J, Ebstein R, Miranda A, Mulas F, Oades RD, Roeyers H, Rothenberger A, Sergeant J, Sonuga-Barke E, Steinhausen H, Asherson P, Faraone SV, Gill M. “Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2008 Dec 5;147B(8):1369-78. doi: 10.1002/ajmg.b.30871. PMID: 18951430.

 

33.  Lasky-Su J, Anney RJ, Neale BM, Franke B, Zhou K, Maller JB, Vasquez AA, Chen W, Asherson P, Buitelaar J, Banaschewski T, Ebstein R, Gill M, Miranda A, Mulas F, Oades RD, Roeyers H, Rothenberger A, Sergeant J, Sonuga-Barke E, Steinhausen HC, Taylor E, Daly M, Laird N, Lange C, Faraone SV. “Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2008 Dec 5;147B(8):1355-8. doi: 10.1002/ajmg.b.30869. PMCID: PMC2605611.

 

34.  Sonuga-Barke EJ, Lasky-Su J, Neale BM, Oades R, Chen W, Franke B, Buitelaar J, Banaschewski T, Ebstein R, Gill M, Anney R, Miranda A, Mulas F, Roeyers H, Rothenberger A, Sergeant J, Steinhausen HC, Thompson M, Asherson P, Faraone SV. “Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2008 Dec 5;147B(8):1359-68. doi: 10.1002/ajmg.b.30860. PMID: 18846501.

 

35.  Lasky-Su J, Neale BM, Franke B, Anney RJ, Zhou K, Maller JB, Vasquez AA, Chen W, Asherson P, Buitelaar J, Banaschewski T, Ebstein R, Gill M, Miranda A, Mulas F, Oades RD, Roeyers H, Rothenberger A, Sergeant J, Sonuga-Barke E, Steinhausen HC, Taylor E, Daly M, Laird N, Lange C, Faraone SV. “Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2008 Dec 5;147B(8):1345-54. doi: 10.1002/ajmg.b.30867. PMID: 18821565.

 

36.  Anney RJ, Kenny E, O'Dushlaine CT, Lasky-Su J, Franke B, Morris DW, Neale BM, Asherson P, Faraone SV, Gill M. “Non-random error in genotype calling procedures: implications for family-based and case-control genome-wide association studies”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2008 Dec 5;147B(8):1379-86. doi: 10.1002/ajmg.b.30836. PMCID: PMC2921075.

 

37.  Zhou K, Chen W, Buitelaar J, Banaschewski T, Oades RD, Franke B, Sonuga-Barke E, Ebstein R, Eisenberg J, Gill M, Manor I, Miranda A, Mulas F, Roeyers H, Rothenberger A, Sergeant J, Steinhausen HC, Lasky-Su J, Taylor E, Brookes KJ, Xu X, Neale BM, Rijsdijk F, Thompson M, Asherson P, Faraone SV. “Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2008 Dec 5;147B(8):1481-7. doi: 10.1002/ajmg.b.30644. PMID: 18553640.

 

38.  Mick E, Neale B, Middleton FA, McGough JJ, Faraone SV. “Genome-wide association study of response to methylphenidate in 187 children with attention-deficit/hyperactivity disorder”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2008 Dec 5;147B(8):1412-8. doi: 10.1002/ajmg.b.30865. PMID: 18821564.

 

39.  Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. “Variation near complement factor I is associated with risk of advanced AMD”. European Journal of Human Genetics. 2009 Jan;17(1):100-4. doi: 10.1038/ejhg.2008.140 PMCID: PMC2985963.

 

40.  Lowe JK, Maller JB, Pe'er I, Neale BM, Salit J, Kenny EE, Shea JL, Burkhardt R, Smith JG, Ji W, Noel M, Foo JN, Blundell ML, Skilling V, Garcia L, Sullivan ML, Lee HE, Labek A, Ferdowsian H, Auerbach SB, Lifton RP, Newton-Cheh C, Breslow JL, Stoffel M, Daly MJ, Altshuler DM, Friedman JM. “Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae”. PLoS Genetics. 2009 Feb;5(2):e1000365. doi: 10.1371/journal.pgen.1000365. PMCID:PMC2628735.

 

41.  Simpson CL, Lemmens R, Miskiewicz K, Broom WJ, Hansen VK, van Vught PW, Landers JE, Sapp P, Van Den Bosch L, Knight J, Neale BM, Turner MR, Veldink JH, Ophoff RA, Tripathi VB, Beleza A, Shah MN, Proitsi P, Van Hoecke A, Carmeliet P, Horvitz HR, Leigh PN, Shaw CE, van den Berg LH, Sham PC, Powell JF, Verstreken P, Brown RH Jr, Robberecht W, Al-Chalabi A. “Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration”. Human Molecular Genetics. 2009 Feb 1;18(3):472-81. doi: 10.1093/hmg/ddn375 PMCID:PMC2638803.

 

42.  Medland SE, Neale MC, Eaves LJ, Neale BM “A note on the parameterization of Purcell's G x E model for ordinal and binary data”. Behavioral Genetics. 2009 Mar;39(2):220-9. doi: 10.1007/s10519-008-9247-7. PMCID: PMC3988290.

 

43.  Faiz S, Neale B, Rios E, Campos T, Parsley E, Patel B, Ostrosky-Zeichner L. “Risk-based fluconazole prophylaxis of Candida bloodstream infection in a medical intensive care unit”. European Journal of Clinical Microbiology Infect Disease. 2009 Jun;28(6):689-92. doi: 10.1007/s10096-008-0666-4. Epub 2008 Nov 15. PMID:19011913.

 

44.  Cotsapas C, Speliotes EK, Hatoum IJ, Greenawalt DM, Dobrin R, Lum PY, Suver C, Chudin E, Kemp D, Reitman M, Voight BF, Neale BM, Schadt EE, Hirschhorn JN, Kaplan LM, Daly MJ; GIANT Consortium. “Common body mass index-associated variants confer risk of extreme obesity”. Human Molecular Genetics. 2009 Sep 15;18(18):3502-7. doi: 10.1093/hmg/ddp292. PMCID: PMC2729668.

 

45.  Weiss LA, Arking DE, Gene Discovery Project of Johns Hopkins & the Autism Consortium*, Daly MJ, Chakravarti A. “A genome-wide linkage and association scan reveals novel loci for autism”. Nature. 2009 Oct 8;461(7265):802-8. PMCID: PMC2772655. (*member of the investigative team cited in the appendix of the manuscript)

 

46.  McGovern DP, Gardet A, Torkvist L, Goyette P, Essers J, Taylor KD, Neale BM,Ong RT, Lagace C, Li C, Green T, Stevens CR, Beauchamp C, Fleshner PR, Carlson M, D'Amato M, Halfvarson J, Hibberd ML, Lordal M, Padyukov L, Andriulli A, Colombo E, Latiano A, Palmieri O, Bernard EJ, Deslandres C, Hommes DW, de Jong DJ, Stokkers PC, Weersma RK; NIDDK IBD Genetics Consortium, Sharma Y, Silverberg MS,  Cho JH, Wu J, Roeder K, Brant SR, Schumm LP, Duerr RH, Dubinsky MC, Glazer  NL, Haritunians T, Ippoliti A, Melmed GY, Siscovick DS, Vasiliauskas EA, Targan SR, Annese V, Wijmenga C, Pettersson S, Rotter JI, Xavier RJ, Daly MJ, Rioux JD, Seielstad M. “Genome-wide association identifies multiple ulcerative colitis susceptibility loci”. Nature Genetics. 2010 Apr;42(4):332-7. Epub 2010 Mar 14. PMCID: PMC3087600.

 

47.  Sobrin L, Maller JB, Neale BM, Reynolds RC, Fagerness JA, Daly MJ, Seddon JM. “Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach”. Eurorpean Journal of Human Genetics. 2010 Apr;18(4):496-501. doi: 10.1038/ejhg.2009.185. PMCID: PMC2911949.

 

48.  Lasky-Su J, Won S, Mick E, Anney RJ, Franke B, Neale B, Biederman J, Smalley SL, Loo SK, Todorov A, Faraone SV, Weiss ST, Lange C. “On genome-wide association studies for family-based designs: an integrative analysis approach combining ascertained family samples with unselected controls”. American Journal of Human Genetics. 2010 Apr 9;86(4):573-80. Epub 2010 Mar 25. PMCID:PMC2850439.

 

49.  Neale BM*, Fagerness J, Reynolds R, Sobrin L, Parker M, Raychaudhuri S, Tan PL, Oh EC, Merriam JE,Souied E, Bernstein PS, Li B, Frederick JM, Zhang K, Brantley MA Jr, Lee AY, Zack DJ, Campochiaro B, Campochiaro P, Ripke S, Smith RT, Barile GR, Katsanis N, Allikmets R, Daly MJ, Seddon JM. “Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)”. Proceedings of the National Academy of  Sciences of the United States of America. 2010 Apr 20;107(16):7395-400. Epub 2010 Apr 12. PMCID: PMC2867697. (* Shared First Author)

 

50.  Raychaudhuri S, Ripke S, Li M, Neale BM, Fagerness J, Reynolds R, Sobrin L, Swaroop A, Abecasis G, Seddon JM, Daly MJ. “Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent”. Nature Genetics. 2010 Jul;42(7):553-5; PMCID: PMC3138072.

 

51.  Neale BM, Medland S, Ripke S, Anney RJ, Asherson P, Buitelaar J, Franke B, Gill M, Kent L, Holmans P, Middleton F, Thapar A, Lesch KP, Faraone SV, Daly M, Nguyen TT, Schäfer H, Steinhausen HC, Reif A, Renner TJ, Romanos M, Romanos J, Warnke A, Walitza S, Freitag C, Meyer J, Palmason H, Rothenberger A, Hawi Z, Sergeant J, Roeyers H, Mick E, Biederman J; IMAGE II Consortium Group. “Case-control genome-wide association study of attention-deficit/hyperactivity disorder”. Journal of the American Academy of Child and Adolescent Psychiatry. 2010 Sep;49(9):906-20. PMCID: PMC2928577.

 

52.  Mick E, Todorov A, Smalley S, Hu X, Loo S, Todd RD, Biederman J, Byrne D, Dechairo B, Guiney A, McCracken J, McGough J, Nelson SF, Reiersen AM, Wilens TE, Wozniak J, Neale BM, Faraone SV. “Family based genome-wide association scan of attention-deficit/hyperactivity disorder”. Journal of the American Academy of Child and Adolescent Psychiatry. 2010 Sep;49(9):898-905.e3. PMCID: PMC3730251.

 

53.  Neale BM, Medland SE, Ripke S, Asherson P, Franke B, Lesch KP, Faraone SV, Nguyen TT, Schäfer H, Holmans P, Daly M, Steinhausen HC, Freitag C, Reif A, Renner TJ, Romanos M, Romanos J, Walitza S, Warnke A, Meyer J, Palmason H, Buitelaar J, Vasquez AA, Lambregts-Rommelse N, Gill M, Anney RJ, Langely K, O'Donovan M, Williams N, Owen M, Thapar A, Kent L, Sergeant J, Roeyers H, Mick E, Biederman J, Doyle A, Smalley S, Loo S, Hakonarson H, Elia J, Todorov A, Miranda A, Mulas F, Ebstein RP, Rothenberger A, Banaschewski T, Oades RD, Sonuga-Barke E, McGough J, Nisenbaum L, Middleton F, Hu X, Nelson S; Psychiatric GWAS Consortium: ADHD Subgroup. “Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder”. Journal of the American Academy of Child and Adolescent Psychiatry. 2010 Sep;49(9):884-97. Epub 2010 Aug PMCID: PMC2928252.

 

54.  Neale BM*, Rivas MA, Voight BF, Altshuler D, Devlin B, Orho-Melander M, Kathiresan S, Purcell SM, Roeder K, Daly MJ. “Testing for an unusual distribution of rare variants”. PLoS Genetics. 2011 Mar;7(3):e1001322. PMCID: PMC3048375. (* Shared First Author)

 

55.  Mick E, McGough JJ, Middleton FA, Neale B, Faraone SV. “Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder”. Progress in Neuro-psychopharmacology and Biological Psychiatry. 2011 Mar 30;35(2):466-72. doi: 10.1016/j.pnpbp.2010.11.037. PMID: 21130132.

 

56.  Cotsapas C, Voight BF, Rossin E, Lage K, Neale BM, Wallace C, Abecasis GR, Barrett JC, Behrens T, Cho J, De Jager PL, Elder JT, Graham RR, Gregersen P, Klareskog L, Siminovitch KA, van Heel DA, Wijmenga C, Worthington J, Todd JA, Hafler DA, Rich SS, Daly MJ; on behalf of the FOCiS Network of Consortia. “Pervasive Sharing of Genetic Effects in Autoimmune Disease”. PLoS Genetics. 2011 Aug;7(8):e1002254. Epub 2011 Aug 10 PMCID: PMC3154137.

 

57.  The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium* “Genome-wide association study identifies five new schizophrenia loci”. Nature Genetics. 2011 Sep 18. doi: 10.1038/ng.940. PMCID: PMC3303194. (*member of the investigative team cited in the appendix of the manuscript)

 

58.  Rivas MA, Beaudoin M, Gardet A, Stevens C, Sharma Y, Zhang CK, Boucher G, Ripke S, Ellinghaus D, Burtt N, Fennell T, Kirby A, Latiano A, Goyette P, Green T, Halfvarson J, Haritunians T, Korn JM, Kuruvilla F, Lagacé C, Neale B, Lo KS, Schumm P, Törkvist L; National Institute of Diabetes and Digestive Kidney Diseases Inflammatory Bowel Disease Genetics Consortium (NIDDK IBDGC); United Kingdom Inflammatory Bowel Disease Genetics Consortium; International Inflammatory Bowel Disease Genetics Consortium, Dubinsky MC, Brant SR, Silverberg MS, Duerr RH, Altshuler D, Gabriel S, Lettre G, Franke A, D'Amato M, McGovern DP, Cho JH, Rioux JD, Xavier RJ, Daly MJ. "Deep Resequencing of GWAS Loci Identifies Independent Rare Variants Associated with Inflammatory Bowel Disease". Nature Genetics. 2011 Oct 9;43(11):1066-73. doi: 10.1038/ng.952. PMCID: PMC3378381.

 

59.  Hinney A, Scherag A, Jarick I, Albayrak Ö, Pütter C, Pechlivanis S, Dauvermann MR, Beck S, Weber H, Scherag S, Nguyen TT, Volckmar AL, Knoll N, Faraone SV, Neale BM, Franke B, Cichon S, Hoffmann P, Nöthen MM, Schreiber S, Jöckel KH, Wichmann HE, Freitag C, Lempp T, Meyer J, Gilsbach S, Herpertz-Dahlmann B, Sinzig J, Lehmkuhl G, Renner TJ, Warnke A, Romanos M, Lesch KP, Reif A, Schimmelmann BG, Hebebrand J; Psychiatric GWAS Consortium: ADHD subgroup. "Genome-Wide Association Study in German Patients with Attention Deficit/Hyperactivity Disorder". American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2011 Dec;156B(8):888-97. doi: 10.1002/ajmg.b.31246. PMID: 22012869.

 

60.  Derks EM, Vorstman JA, Ripke S, Kahn RS; Schizophrenia Psychiatric Genomic Consortium*, Ophoff RA. “Investigation of the genetic association between quantitative measures of psychosis and schizophrenia: a polygenic risk score analysis”. PLoS One. 2012;7(6):e37852. doi: 10.1371/journal.pone.0037852. Epub 2012 Jun 22. Erratum in: PLoS One. 2013;8(3). doi:10.1371/annotation/6ff0353a-cc91-4d12-896a-d1de0dcb0fe0. PMCID: PMC3382234. (*member of the investigative team cited in the appendix of the manuscript)

 

61.  Keller MC, Simonson MA, Ripke S, Neale BM, Gejman PV, Howrigan DP, Lee SH, Lencz T, Levinson DF, Sullivan PF; Schizophrenia Psychiatric Genome-Wide Association Study Consortium. “Runs of homozygosity implicate autozygosity as a schizophrenia risk factor”. Plos Genetics. 2012;8(4):e1002656. doi: 10.1371/journal.pgen.1002656. PMCID: PMC3325203.

 

62.  Sullivan P; 96 Psychiatric Genetics Investigators*. “Don't give up on GWAS”. Molecular Psychiatry. 2012 Jan;17(1):2-3. doi: 10.1038/mp.2011.94. Epub 2011 Aug 9. PMCID: PMC4187109. (*member of the investigative team cited in the appendix of the manuscript)

 

63.  Stergiakouli E, Hamshere M, Holmans P, Langley K, Zaharieva I; deCODE Genetics; Psychiatric GWAS Consortium*, Hawi Z, Kent L, Gill M, Williams N, Owen MJ, O'Donovan M, Thapar A. “Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD”. American Journal of Psychiatry. 2012 Feb;169(2):186-94. PMCID: PMC3601404. (*member of the investigative team cited in the appendix of the manuscript)

 

64.  Walford GA, Green T, Neale B, Isakova T, Rotter JI, Grant SF, Fox CS, Pankow JS, Wilson JG, Meigs JB, Siscovick DS, Bowden DW, Daly MJ, Florez JC. "Common Genetic Variants Differentially Influence the Transition from Clinically Defined States of Fasting Glucose Metabolism". Diabetologia. 2012 Feb;55(2):331-9. doi: 10.1007/s00125-011-2353-8. PMCID: PMC3589986.

 

65.  Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. “Patterns and rates of exonic de novo mutations in autism spectrum disorders”. Nature. 2012 Apr 4;485(7397):242-5. doi: 10.1038/nature11011. PMCID: PMC3613847.

 

66.  Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF.“Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries”. Cell. 2012 Apr 27;149(3):525-37. doi: 10.1016/j.cell.2012.03.028. PMCID: PMC3340505.

 

67.  Pasaniuc, B, Rohland, N, McLaren, PJ, Garimella, K, Zaitlen, N, Li, H, Gupta, N, Neale, BM, Daly, MJ, Sklar, P, Sullivan, PF, Bergen, S, Moran, JL, Hultman, CM, Lichtenstein, P, Magnusson, P, Purcell, SM, Haas, DW, Liang, L, Sunyaev, S, Patterson, N, de Bakker, PI, Reich, D, and Price, AL. 2012. “Extremely low-coverage sequencing and imputation increases power for genome-wide association studies”. Nature Genetics. 2012 May 20;44(6):631-5. doi: 10.1038/ng.2283. PMCID: PMC3400344.

 

68.  Kiezun, A, Garimella, K, Do, R, Stitziel, NO, Neale, BM, McLaren, PJ, Gupta, N, Sklar, P, Sullivan, PF, Moran, JL, Hultman, CM, Lichtenstein, P, Magnusson, P, Lehner, T, Shugart, YY, Price, AL, de Bakker, PI, Purcell, SM, and Sunyaev, SR. “Exome sequencing and the genetic basis of complex traits”. Nature Genetics. 2012 May 29;44(6):623-30. doi: 10.1038/ng.2303. PMCID: PMC3727622.

 

69.  Goldstein JI, Crenshaw A, Carey J, Grant GB, Maguire J, Fromer M, O'Dushlaine C, Moran JL, Chambert K, Stevens C; Swedish Schizophrenia Consortium; ARRA Autism Sequencing Consortium, Sklar P, Hultman CM, Purcell S, McCarroll SA, Sullivan PF, Daly MJ, Neale BM. “zCall: a rare variant caller for array-based genotyping: Genetics and population analysis”. Bioinformatics. 2012 Oct 1;28(19):2543-5. PMCID: PMC3463112.

 

70.  Buxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW; Autism Sequencing Consortium*. “The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders”. Neuron. 2012 Dec 20;76(6):1052-6. doi: 10.1016/j.neuron.2012.12.008. PMCID: PMC3863639. (*member of the investigative team cited in the appendix of the manuscript)

 

71.  Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, Macarthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, Depristo M, Altshuler DM, Purcell SM; NHLBI Exome Sequencing Project, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ. “Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders”. Neuron. 2013 Jan 23;77(2):235-42. doi: 10.1016/j.neuron.2012.12.029. PMCID: PMC3613849.

 

72.  Huyghe JR, Jackson AU, Fogarty MP, Buchkovich ML, Stančáková A, Stringham HM, Sim X, Yang L, Fuchsberger C, Cederberg H, Chines PS, Teslovich TM, Romm JM, Ling H, McMullen I, Ingersoll R, Pugh EW, Doheny KF, Neale BM, Daly MJ, Kuusisto J, Scott LJ, Kang HM, Collins FS, Abecasis GR, Watanabe RM, Boehnke M, Laakso M, Mohlke KL. “Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion”. Nature Genetics. 2013 Feb;45(2):197-201. doi: 10.1038/ng.2507. PMCID: PMC3727235.

 

73.  Andreassen OA, Djurovic S, Thompson WK, Schork AJ, Kendler KS, O'Donovan MC, Rujescu D, Werge T, van de Bunt M, Morris AP, McCarthy MI; International Consortium for Blood Pressure GWAS; Diabetes Genetics Replication and Meta-analysis Consortium; Psychiatric Genomics Consortium Schizophrenia Working Group, Roddey JC, McEvoy LK, Desikan RS, Dale AM. “Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors”. American Journal of Human Genetics. 2013 Feb 7;92(2):197-209. doi: 10.1016/j.ajhg.2013.01.001. Epub 2013 Jan 31. PMCID: PMC3567279. (*member of the investigative team cited in the appendix of the manuscript)

 

74.  Terwisscha van Scheltinga AF, Bakker SC, van Haren NE, Derks EM, Buizer-Voskamp JE, Boos HB, Cahn W, Hulshoff Pol HE, Ripke S, Ophoff RA, Kahn RS; Psychiatric Genome-wide Association Study Consortium*. “Genetic schizophrenia risk variants jointly modulate total brain and white matter volume”. Biological Psychiatry. 2013 Mar 15;73(6):525-31. doi: 10.1016/j.biopsych.2012.08.017. Epub 2012 Oct 3. PMCID: PMC3573254. (*member of the investigative team cited in the appendix of the manuscript)

 

75.  Bahl S, Chiang C, Beauchamp RL, Neale BM, Daly MJ, Gusella JF, Talkowski ME, Ramesh V. “Lack of association of rare and functional variats in TSC1/TSC2 genes with autism spectrum disorder”. Molecular Autism. 2013 Mar 20;4(1):5. doi: 10.1186/2040-2392-4-5. PMCID: PMC3610211.

 

76.  Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, Gabriel S, Garimella K, Gross S, Hawes A, Lewis L, Makarov V, Maguire J, Newsham I, Poplin R, Ripke S, Shakir K, Samocha KE, Wu Y, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Schellenberg GD, Sutcliffe JS, Daly MJ, Gibbs RA, Roeder K. “Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls”. PLoS Genetics. 2013 Apr;9(4):e1003443. doi: 10.1371/journal.pgen.1003443. PMCID: PMC3623759.

 

77.  Schork AJ, Thompson WK, Pham P, Torkamani A, Roddey JC, Sullivan PF, Kelsoe JR, O'Donovan MC, Furberg H; Tobacco and Genetics Consortium; Bipolar Disorder Psychiatric Genomics Consortium; Schizophrenia Psychiatric Genomics Consortium*, Schork NJ, Andreassen OA, Dale AM. “All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs. PLoS Genetics. 2013 Apr;9(4):e1003449. doi: 10.1371/journal.pgen.1003449. Epub 2013 Apr 25. PMCID: PMC3636284. (*member of the investigative team cited in the appendix of the manuscript)

 

78.  Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium, Ripke S, Wray NR, Lewis CM, Hamilton SP, Weissman MM, Breen G, Byrne EM, Blackwood DH, Boomsma DI, Cichon S, Heath AC, Holsboer F, Lucae S, Madden PA, Martin NG, McGuffin P, Muglia P, Noethen MM, Penninx BP, Pergadia ML, Potash JB, Rietschel M, Lin D, Müller-Myhsok B, Shi J, Steinberg S, Grabe HJ, Lichtenstein P, Magnusson P, Perlis RH, Preisig M, Smoller JW, Stefansson K, Uher R, Kutalik Z, Tansey KE, Teumer A, Viktorin A, Barnes MR, Bettecken T, Binder EB, Breuer R, Castro VM, Churchill SE, Coryell WH, Craddock N, Craig IW, Czamara D, De Geus EJ, Degenhardt F, Farmer AE, Fava M, Frank J, Gainer VS, Gallagher PJ, Gordon SD, Goryachev S, Gross M, Guipponi M, Henders AK, Herms S, Hickie IB, Hoefels S, Hoogendijk W, Hottenga JJ, Iosifescu DV, Ising M, Jones I, Jones L, Jung-Ying T, Knowles JA, Kohane IS, Kohli MA, Korszun A, Landen M, Lawson WB, Lewis G, Macintyre D, Maier W, Mattheisen M, McGrath PJ, McIntosh A, McLean A, Middeldorp CM, Middleton L, Montgomery GM, Murphy SN, Nauck M, Nolen WA, Nyholt DR, O'Donovan M, Oskarsson H, Pedersen N, Scheftner WA, Schulz A, Schulze TG, Shyn SI, Sigurdsson E, Slager SL, Smit JH, Stefansson H, Steffens M, Thorgeirsson T, Tozzi F, Treutlein J, Uhr M, van den Oord EJ, Van Grootheest G, Völzke H, Weilburg JB, Willemsen G, Zitman FG, Neale B, Daly M, Levinson DF, Sullivan PF. “A mega-analysis of genome-wide association studies for major depressive disorder”. Molecular Psychiatry. 2013 Apr;18(4):497-511. doi: 10.1038/mp.2012.21. PMCID: PMC3837431.

 

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81.  Scharf, JM, Yu, D, Mathews, CA, Neale, BM*, Stewart, SE, Fagerness, JA, Evans, P, Gamazon, E, Edlund, CK, Service, SK, Tikhomirov, A, Osiecki, L, Illmann, C, Pluzhnikov, A, Konkashbaev, A, Davis, LK, Han, B, Crane, J, Moorjani, P, Crenshaw, AT, Parkin, MA, Reus, VI, Lowe, TL, Rangel-Lugo, M, Chouinard, S, Dion, Y, Girard, S, Cath, DC, Smit, JH, King, RA, Fernandez, TV, Leckman, JF, Kidd, KK, Kidd, JR, Pakstis, AJ, State, MW, Herrera, LD, Romero, R, Fournier, E, Sandor, P, Barr, CL, Phan, N, Gross-Tsur, V, Benarroch, F, Pollak, Y, Budman, CL, Bruun, RD, Erenberg, G, Naarden, AL, Lee, PC, Weiss, N, Kremeyer, B, Berrio, GB, Campbell, DD, Cardona Silgado, JC, Ochoa, WC, Mesa Restrepo, SC, Muller, H, Valencia Duarte, AV, Lyon, GJ, Leppert, M, Morgan, J, Weiss, R, Grados, MA, Anderson, K, Davarya, S, Singer, H, Walkup, J, Jankovic, J, Tischfield, JA, Heiman, GA, Gilbert, DL, Hoekstra, PJ, Robertson, MM, Kurlan, R, Liu, C, Gibbs, JR, Singleton, A, Hardy, J, Strengman, E, Ophoff, RA, Wagner, M, Moessner, R, Mirel, DB, Posthuma, D, Sabatti, C, Eskin, E, Conti, DV, Knowles, JA, Ruiz-Linares, A, Rouleau, GA, Purcell, S, Heutink, P, Oostra, BA, McMahon, WM, Freimer, NB, Cox, NJ, and Pauls, DL. “Genome-wide association study of Tourette's syndrome”. Molecular Psychiatry. 2013 Jun;18(6):721-8. doi: 10.1038/mp.2012.69. PMCID: PMC3605224. (* Shared First Author)

 

82.  Albayrak Ö, Pütter C, Volckmar AL, Cichon S, Hoffmann P, Nöthen MM, Jöckel KH, Schreiber S, Wichmann HE, Faraone SV, Neale BM, Herpertz-Dahlmann B, Lehmkuhl G, Sinzig J, Renner TJ, Romanos M, Warnke A, LEsch KP, Reif A, Schimmelmann BG, Scherag A, Hebebrand J, Hinney A, Psychiatric GWAS Consortium: ADHD Subgroup. “Common obesity risk alleles in childhood attention-deficit/hyperactivity disorder”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2013 Jun;162B(4):295-305. doi: 10.1002/ajmg.b.32144. PMID: 23533005.

 

83.  Yang L, Neale BM*, Liu L, Lee SH, Wray NR, Ji N, Li H, Qian Q, Wang D, Li J, Faraone SV, Wang Y; Psychiatric GWAS Consortium: ADHD Subgroup, Doyle AE, Reif A, Rothenberger A, Franke B, Sonuga-Barke EJ, Steinhausen HC, Buitelaar JK, Kuntsi J, Biederman J, Lesch KP, Kent L, Asherson P, Oades RD, Loo SK, Nelson SF, Faraone SV, Smalley SL, Banaschewski T, Arias Vasquez A, Todorov A, Charach A, Miranda A, Warnke A, Thapar A, Neale BM, Cormand B, Freitag C, Mick E, Mulas F, Middleton F, HakonarsonHakonarson H, Palmason H, Schäfer H, Roeyers H, McGough JJ, Romanos J, Crosbie J, Meyer J, Ramos-Quiroga JA, Sergeant J, Elia J, Langely K, Nisenbaum L, Romanos M, Daly MJ, Ribasés M, Gill M, O'Donovan M, Owen M, Casas M, Bayés M, Lambregts-Rommelse N, Williams N, Holmans P, Anney RJ, Ebstein RP, Schachar R, Medland SE, Ripke S, Walitza S, Nguyen TT, Renner TJ, Hu X. “Polygenic transmission and complex neuro development network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2013 Jul;162B(5):419-30. doi: 10.1002/ajmg.b.32169. PMCID: PMC4321789. (* Shared First Author)

 

84.  Stewart, SE, Yu, D, Scharf, JM, Neale, BM*, Fagerness, JA, Mathews, CA, Arnold, PD, Evans, PD, Gamazon, ER, Osiecki, L, McGrath, L, Haddad, S, Crane, J, Hezel, D, Illman, C, Mayerfeld, C, Konkashbaev, A, Liu, C, Pluzhnikov, A, Tikhomirov, A, Edlund, CK, Rauch, SL, Moessner, R, Falkai, P, Maier, W, Ruhrmann, S, Grabe, HJ, Lennertz, L, Wagner, M, Bellodi, L, Cavallini, MC, Richter, MA, Cook, EH, Jr., Kennedy, JL, Rosenberg, D, Stein, DJ, Hemmings, SM, Lochner, C, Azzam, A, Chavira, DA, Fournier, E, Garrido, H, Sheppard, B, Umana, P, Murphy, DL, Wendland, JR, Veenstra-Vanderweele, J, Denys, D, Blom, R, Deforce, D, Van Nieuwerburgh, F, Westenberg, HG, Walitza, S, Egberts, K, Renner, T, Miguel, EC, Cappi, C, Hounie, AG, Conceicao do Rosario, M, Sampaio, AS, Vallada, H, Nicolini, H, Lanzagorta, N, Camarena, B, Delorme, R, Leboyer, M, Pato, CN, Pato, MT, Voyiaziakis, E, Heutink, P, Cath, DC, Posthuma, D, Smit, JH, Samuels, J, Bienvenu, OJ, Cullen, B, Fyer, AJ, Grados, MA, Greenberg, BD, McCracken, JT, Riddle, MA, Wang, Y, Coric, V, Leckman, JF, Bloch, M, Pittenger, C, Eapen, V, Black, DW, Ophoff, RA, Strengman, E, Cusi, D, Turiel, M, Frau, F, Macciardi, F, Gibbs, JR, Cookson, MR, Singleton, A, Hardy, J, Crenshaw, AT, Parkin, MA, Mirel, DB, Conti, DV, Purcell, S, Nestadt, G, Hanna, GL, Jenike, MA, Knowles, JA, Cox, N, and Pauls, DL. “Genome-wide association study of obsessive-compulsive disorder”. Molecular Psychiatry. 2013 Jul;18(7):788-98. doi: 10.1038/mp.2012.85. PMCID: PMC4218751. (* Shared First Author)

 

85.  Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U, McArdle WL, Quaye L, Koiranen M, Ikram MA, Lehtimäki T, Stam AH, Ligthart L, Wedenoja J, Dunham I, Neale BM, Palta P, Hamalainen E, Schürks M, Rose LM, Buring JE, Ridker PM, Steinberg S, Stefansson H, Jakobsson F, Lawlor DA, Evans DM, Ring SM, Färkkilä M, Artto V, Kaunisto MA, Freilinger T, Schoenen J, Frants RR, Pelzer N, Weller CM, Zielman R, Heath AC, Madden PA, Montgomery GW, Martin NG, Borck G, Göbel H, Heinze A, Heinze-Kuhn K, Williams FM, Hartikainen AL, Pouta A, van den Ende J, Uitterlinden AG, Hofman A, Amin N, Hottenga JJ, Vink JM, Heikkilä K, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann HE, Aromaa A, Eriksson JG, Traynor BJ, Trabzuni D; North American Brain Expression Consortium; UK Brain Expression Consortium, Rossin E, Lage K, Jacobs SB, Gibbs JR, Birney E, Kaprio J, Penninx BW, Boomsma DI, van Duijn C, Raitakari O, Jarvelin MR, Zwart JA, Cherkas L, Strachan DP, Kubisch C, Ferrari MD, van den Maagdenberg AM, Dichgans M, Wessman M, Smith GD, Stefansson K, Daly MJ; International Headache Genetics Consortium, Nyholt DR, Chasman DI, Palotie A. “Genome-wide meta-analysis identifies new susceptibility loci for migraine”. Nature Genetics. 2013 Aug;45(8):912-7. doi: 10.1038/ng.2676. Epub 2013 Jun 23. PMCID: PMC4041123.

 

86.  Hamshere ML, Langley K, Martin J, Agha SS, Stergiakouli E, Anney RJ, Buitelaar J, Faraone SV, Lesch KP, Neale BM, Franke B, Sonuga-Barke E, Asherson P, Merwood A, Kuntsi J, Medland SE, Ripke S, Steinhausen HC, Freitag C, Reif A, Renner TJ, Romanos M, Romanos J, Warnke A, Meyer J, Palmason H, Vasquez AA, Lambregts-Rommelse N, Roeyers H, Biederman J, Doyle AE, Hakonarson H, Rothenberger A, Banaschewski T, Oades RD, McGough JJ, Kent L, Williams N, Owen MJ, Holmans P, O'Donovan MC, Thapar A. “High loading of polygenic risk of ADHD in children with comorbid aggression”. American Journal of Psychiatry. 2013 Aug 1;170(8):909-16. doi: 10.1176/appi.ajp.2013.12081129. PMCID: PMC3935265.

 

87.  Hu YJ, Berndt SI, Gustafsson S, Ganna A; Genetic Investigation of ANthropometric Traits (GIANT) Consortium*, Hirschhorn J, North KE, Ingelsson E, Lin DY. “Meta-analysis of gene-level associations for rare variants based on single-variant statistics”. American Journal of Human Genetics. 2013 Aug 8;93(2):236-48. doi: 10.1016/j.ajhg.2013.06.011. PMCID: PMC3738834. (*member of the investigative team cited in the appendix of the manuscript)

 

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89.  Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, Yang J, Lee SH, Evans P, Barr CL, Bellodi L, Benarroch F, Berrio GB, Bienvenu OJ, Bloch MH, Blom RM, Bruun RD, Budman CL, Camarena B, Campbell D, Cappi C, Cardona Silgado JC, Cath DC, Cavallini MC, Chavira DA, Chouinard S, Conti DV, Cook EH, Coric V, Cullen BA, Deforce D, Delorme R, Dion Y, Edlund CK, Egberts K, Falkai P, Fernandez TV, Gallagher PJ, Garrido H, Geller D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Haddad S, Heiman GA, Hemmings SM, Hounie AG, Illmann C, Jankovic J, Jenike MA, Kennedy JL, King RA, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Macciardi F, McCracken JT, McGrath LM, Mesa Restrepo SC, Moessner R, Morgan J, Muller H, Murphy DL, Naarden AL, Ochoa WC, Ophoff RA, Osiecki L, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner TJ, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosàrio MC, Rosenberg D, Rouleau GA, Ruhrmann S, Ruiz-Linares A, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Valencia Duarte AV, Vallada H, Van Nieuwerburgh F, Veenstra-Vanderweele J, Walitza S, Wang Y, Wendland JR, Westenberg HG, Shugart YY, Miguel EC, McMahon W, Wagner M, Nicolini H, Posthuma D, Hanna GL, Heutink P, Denys D, Arnold PD, Oostra BA, Nestadt G, Freimer NB, Pauls DL, Wray NR, Stewart SE, Mathews CA, Knowles JA, Cox NJ, Scharf JM. “Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.” PLoS Genetics. 2013 Oct;9(10):e1003864. doi: 10.1371/journal.pgen.1003864. Epub 2013 Oct 24. PMCID: PMC3812053.

 

90.  Ripke S, O'Dushlaine C, Chambert K, Moran JL, Kähler AK, Akterin S, Bergen SE, Collins AL, Crowley JJ, Fromer M, Kim Y, Lee SH, Magnusson PK, Sanchez N, Stahl EA, Williams S, Wray NR, Xia K, Bettella F, Borglum AD, Bulik-Sullivan BK, Cormican P, Craddock N, de Leeuw C, Durmishi N, Gill M, Golimbet V, Hamshere ML, Holmans P, Hougaard DM, Kendler KS, Lin K, Morris DW, Mors O, Mortensen PB, Neale BM, O'Neill FA, Owen MJ, Milovancevic MP, Posthuma D, Powell J, Richards AL, Riley BP, Ruderfer D, Rujescu D, Sigurdsson E, Silagadze T, Smit AB, Stefansson H, Steinberg S, Suvisaari J, Tosato S, Verhage M, Walters JT; Multicenter Genetic Studies of Schizophrenia Consortium, Levinson DF, Gejman PV, Kendler KS, Laurent C, Mowry BJ, O'Donovan MC, Owen MJ, Pulver AE, Riley BP, Schwab SG, Wildenauer DB, Dudbridge F, Holmans P, Shi J, Albus M, Alexander M, Campion D, Cohen D, Dikeos D, Duan J, Eichhammer P, Godard S, Hansen M, Lerer FB, Liang KY, Maier W, Mallet J, Nertney DA, Nestadt G, Norton N, O'Neill FA, Papadimitriou GN, Ribble R, Sanders AR, Silverman JM, Walsh D, Williams NM, Wormley B; Psychosis Endophenotypes International Consortium, Arranz MJ, Bakker S, Bender S, Bramon E, Collier D, Crespo-Facorro B, Hall J, Iyegbe C, Jablensky A, Kahn RS, Kalaydjieva L, Lawrie S, Lewis CM, Lin K, Linszen DH, Mata I, McIntosh A, Murray RM, Ophoff RA, Powell J, Rujescu D, Van Os J, Walshe M, Weisbrod M, Wiersma D; Wellcome Trust Case Control Consortium 2; Management Committee:, Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin AP, Deloukas P, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW; Data and Analysis Group:, Spencer CC, Band G, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson RD, Strange A, Su Z, Vukcevic D, Donnelly P; DNA, Genotyping, Data QC and Informatics Group:, Langford C, Hunt SE, Edkins S, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC, Ravindrarajah R, Ricketts M, Tashakkori-Ghanbaria A, Waller MJ, Weston P, Widaa S, Whittaker P, Barroso I, Deloukas P; Publications Committee:, Mathew CG, Blackwell JM, Brown MA, Corvin AP, McCarthy MI, Spencer CC, Bramon E, Corvin AP, O'Donovan MC, Stefansson K, Scolnick E, Purcell S, McCarroll SA, Sklar P, Hultman CM, Sullivan PF. “Genome-wide association analysis identifies 13 new risk loci for schizophrenia”. Nature Genetics. 2013 Oct;45(10):1150-9. doi: 10.1038/ng.2742. Epub 2013 Aug 25. PMCID: PMC3827979.

 

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92.  Szatkiewicz JP, Neale BM, O'Dushlaine C, Fromer M, Goldstein JI, Moran JL, Chambert K, Kähler A, Magnusson PK, Hultman CM, Sklar P, Purcell S, McCarroll SA, Sullivan PF. “Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample”. Molecular Psychiatry. 2013 Nov;18(11):1178-84. doi: 10.1038/mp.2013.98. Epub 2013 Aug 13. PMCID: PMC3966073.

 

93.  Hamilton PJ, Campbell NG, Sharma S, Erreger K, Herborg Hansen F, Saunders C, Belovich AN; NIH ARRA Autism Sequencing Consortium*, Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli A. “De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder”. Molecular Psychiatry. 2013 Dec;18(12):1315-23. doi: 10.1038/mp.2013.102. Epub 2013 Aug 27. PMCID: PMC4046646. (*collaborator)

 

94.  van Scheltinga AF, Bakker SC, van Haren NE, Derks EM, Buizer-Voskamp JE, Cahn W, Ripke S; Psychiatric Genome-Wide Association Study (GWAS) Consortium*, Ophoff RA, Kahn RS. “Schizophrenia genetic variants are not associated with intelligence”. Psychological Medicine. 2013 Dec;43(12):2563-70. doi: 10.1017/S0033291713000196. Epub 2013 Feb 15. PMCID: PMC4743754. (*member of the investigative team cited in the appendix of the manuscript)

 

95.  Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD, Klei L, Neale BM, Franjic D, Daly MJ, Lifton RP, De Camilli P, Zhao H, Sestan N, State MW. “Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.” Molecular Autism. 2014 Apr 29;5:31. doi: 10.1186/2040-2392-5-31. eCollection 2014. PMCID: PMC4032628.

 

96.  Zuk O, Schaffner SF, Samocha K, Do R, Hechter E, Kathiresan S, Daly MJ, Neale BM, Sunyaev SR, Lander ES. “Searching for missing heritability: designing rare variant association studies.” Proceedings of the National Academy of Sciences of the United States of America. 2014 Jan 28;111(4):E455-64. doi: 10.1073/pnas.1322563111. Epub 2014 Jan 17. PMCID: PMC3910587.

 

97.  The SIGMA Type 2 Diabetes Consortium; Writing team, Williams AL, Jacobs SB, Moreno-Macías H, Huerta-Chagoya A, Churchhouse C, Márquez-Luna C, García-Ortíz H, José Gómez-Vázquez M, Burtt NP, Aguilar-Salinas CA, González-Villalpando C, Florez JC, Orozco L, Haiman CA, Tusié-Luna T, Altshuler D; Analysis team, Williams AL, Márquez-Luna C, Huerta-Chagoya A, Ripke S, José Gómez-Vázquez M, Manning AK, Moreno-Macías H, García-Ortíz H, Neale B, Burtt NP, Aguilar-Salinas CA, Reich D, Stram DO, Fernández-López JC, Romero-Hidalgo S, Altshuler D, Florez JC, Tusié-Luna T, Patterson N, Haiman CA; Clinical research, study design and metabolic phenotyping: Diabetes in Mexico Study, Aguilar-Delfín I, Martínez-Hernández A, Centeno-Cruz F, Mendoza-Caamal E, Revilla-Monsalve C, Islas-Andrade S, Córdova E, Rodríguez-Arellano E, Soberón X, Orozco L; Massachusetts General Hospital, Florez JC; Mexico City Diabetes Study, González-Villalpando C, González-Villalpando ME; Multiethnic Cohort, Haiman CA, Henderson BE, Monroe K, Wilkens L, Kolonel LN, Le Marchand L; UNAM/INCMNSZ Diabetes Study, Riba L, Ordóñez-Sánchez ML, Rodríguez-Guillén R, Cruz-Bautista I, Rodríguez-Torres M, Muñoz-Hernández LL, Sáenz T, Gómez D, Alvirde U; Sample quality control and whole-genome genotyping, Burtt NP, Onofrio RC, Brodeur WM, Gage D, Murphy J, Franklin J, Mahan S, Ardlie K, Crenshaw AT, Winckler W; Neanderthal analysis team, Prüfer K, Shunkov MV, Sawyer S, Stenzel U, Kelso J, Lek M, Sankararaman S, Williams AL, Patterson N, Macarthur DG, Reich D, Derevianko AP, Pääbo S; Functional analysis and metabolite profiling, Jacobs SB, Churchhouse C, Gopal S, Grammatikos JA, Smith IC, Bullock KH, Deik AA, Souza AL, Pierce KA, Clish CB, Altshuler D; Replication genotyping and analysis: Broad Institute of Harvard and MIT, Fennell T, Farjoun Y, Genomics Platform B, Gabriel S; Singapore Chinese Health Study, Stram DO, Gross MD, Pereira MA, Seielstad M, Koh WP, Tai ES; T2D-GENES Consortium, Flannick J, Fontanillas P, Morris A, Teslovich TM, Burtt NP, Atzmon G, Blangero J, Bowden DW, Chambers J, Shin Cho Y, Duggirala R, Glaser B, Hanis C, Kooner J, Laakso M, Lee JY, Tai ES, Ying Teo Y, Wilson JG; Multiethnic Cohort, Haiman CA, Henderson BE, Monroe K, Wilkens L, Kolonel LN, Le Marchand L; Texas Biomedical Research Institute and University of Texas Health Science Center at San Antonio, Puppala S, Farook VS, Thameem F, Abboud HE, Defronzo RA, Jenkinson CP, Lehman DM, Curran JE, Blangero J, Duggirala R; Scientific and project management, Burtt NP, Cortes ML; Steering committee, Altshuler D, Florez JC, Haiman CA, Henderson BE, Aguilar-Salinas CA, González-Villalpando C, Orozco L, Tusié-Luna T. “Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.” Nature. 2014 Feb 6;506(7486):97-101. doi: 10.1038/nature12828. Epub 2013 Dec 25. PMID: 24390345.

 

98.  Chan Y, Lim ET, Sandholm N, Wang SR, McKnight AJ, Ripke S; DIAGRAM Consortium; GENIE Consortium; GIANT Consortium; IIBDGC Consortium; PGC Consortium, Daly MJ, Neale BM, Salem RM, Hirschhorn JN. “An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.” American Journal of Human Genetics. 2014 Mar 6;94(3):437-52. doi:10.1016/j.ajhg.2014.02.006. PMCID: PMC3951950.

 

99.  Hart AB, Gamazon ER, Engelhardt BE, Sklar P, Kähler AK, Hultman CM, Sullivan PF, Neale BM, Faraone SV; Psychiatric Genomics Consortium: ADHD Subgroup, de Wit H, Cox NJ, Palmer AA. “Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder.” Proceedings of the National Academy of Sciences of the United States of America. 2014 Apr 22;111(16):5968-73. doi: 10.1073/pnas.1318810111. Epub 2014 Apr 7. PMCID: PMC4000861.

 

100.                 Winkler TW, Day FR, Croteau-Chonka DC, Wood AR, Locke AE, Mägi R, Ferreira T, Fall T, Graff M, Justice AE, Luan J, Gustafsson S, Randall JC, Vedantam S, Workalemahu T, Kilpeläinen TO, Scherag A, Esko T, Kutalik Z, Heid IM, Loos RJ; Genetic Investigation of Anthropometric Traits (GIANT) Consortium*. “Quality control and conduct of genome-wide association meta-analyses”. Nature Protocols. 2014 May;9(5):1192-212. doi: 10.1038/nprot.2014.071. Epub 2014 Apr 24. PMCID: PMC4083217. (*member of the investigative team cited in the appendix of the manuscript)

 

101.                 Medland SE, Jahanshad N, Neale BM, Thompson PM. “Whole-genome analyses of whole-brain data: working within an expanded search space.” Nature Neuroscience. 2014 Jun;17(6):791-800. doi: 10.1038/nn.3718. Epub 2014 May 27. PMCID: PMC4300949.

 

102.                 Bigdeli TB, Neale BM, Neale MC. “Statistical properties of single-marker tests for rare variants.” Twin Research and Human Genetics. 2014 Jun;17(3):143-50. doi: 10.1017/thg.2014.17. Epub 2014 Apr 17. PMID: 24739319.

 

103.                 Nicodemus KK, Hargreaves A, Morris D, Anney R, Gill M, Corvin A, Donohoe G; Schizophrenia Psychiatric Genome-wide Association Study (GWAS) Consortium*; Wellcome Trust Case Control Consortium 2. “Variability in working memory performance explained by epistasis vs polygenic scores in the ZNF804A pathway”. JAMA Psychiatry. 2014 Jul 1;71(7):778-85. doi: 10.1001/jamapsychiatry.2014.528. PMCID: PMC4337973. (*member of the investigative team cited in the appendix of the manuscript)

 

104.                 Szatkiewicz JP, O'Dushlaine C, Chen G, Chambert K, Moran JL, Neale BM, Fromer M, Ruderfer D, Akterin S, Bergen SE, Kähler A, Magnusson PK, Kim Y, Crowley JJ, Rees E, Kirov G, O'Donovan MC, Owen MJ, Walters J, Scolnick E, Sklar P, Purcell S, Hultman CM, McCarroll SA, Sullivan PF. “Copy number variation in schizophrenia in Sweden.” Molecular Psychiatry. 2014 Apr 29. doi: 10.1038/mp.2014.40. PMCID: PMC4271733.

 

105.                 Hoggart CJ, Venturini G, Mangino M, Gomez F, Ascari G, Zhao JH, Teumer A, Winkler TW, Tšernikova N, Luan J, Mihailov E, Ehret GB, Zhang W, Lamparter D, Esko T, Macé A, Rüeger S, Bochud PY, Barcella M, Dauvilliers Y, Benyamin B, Evans DM, Hayward C, Lopez MF, Franke L, Russo A, Heid IM, Salvi E, Vendantam S, Arking DE, Boerwinkle E, Chambers JC, Fiorito G, Grallert H, Guarrera S, Homuth G, Huffman JE, Porteous D; Generation Scotland Consortium; LifeLines Cohort study; GIANT Consortium*, Moradpour D, Iranzo A, Hebebrand J, Kemp JP, Lammers GJ, Aubert V, Heim MH, Martin NG, Montgomery GW, Peraita-Adrados R, Santamaria J, Negro F, Schmidt CO, Scott RA, Spector TD, Strauch K, Völzke H, Wareham NJ, Yuan W, Bell JT, Chakravarti A, Kooner JS, Peters A, Matullo G, Wallaschofski H, Whitfield JB, Paccaud F, Vollenweider P, Bergmann S, Beckmann JS, Tafti M, Hastie ND, Cusi D, Bochud M, Frayling TM, Metspalu A, Jarvelin MR, Scherag A, Smith GD, Borecki IB, Rousson V, Hirschhorn JN, Rivolta C, Loos RJ, Kutalik Z. “Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index”. PLoS Genetics. 2014 Jul 31;10(7):e1004508. doi: 10.1371/journal.pgen.1004508. eCollection 2014 Jul. PMCID: PMC4117451. (*member of the investigative team cited in the appendix of the manuscript)

 

106.                 Schizophrenia Working Group of the Psychiatric Genomics Consortium*. “Biological Insights From 108 Schizophrenia-Associated Genetic Loci” Nature. 2014 Jul 24;511(7510):421-7. doi: 10.1038/nature13595. Epub 2014 Jul 22. PMCID: PMC4112379. (*member of the investigative team cited in the appendix of the manuscript)

 

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108.                 McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, Gallagher P, Fagerness JA, Barr CL, Bellodi L, Benarroch F, Bienvenu OJ, Black DW, Bloch MH, Bruun RD, Budman CL, Camarena B, Cath DC, Cavallini MC, Chouinard S, Coric V, Cullen B, Delorme R, Denys D, Derks EM, Dion Y, Rosário MC, Eapen V, Evans P, Falkai P, Fernandez TV, Garrido H, Geller D, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Heiman GA, Hemmings SM, Herrera LD, Hounie AG, Jankovic J, Kennedy JL, King RA, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Lochner C, Lowe TL, Lyon GJ, Macciardi F, Maier W, McCracken JT, McMahon W, Murphy DL, Naarden AL, Neale BM, Nurmi E, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Reus VI, Richter MA, Riddle M, Robertson MM, Rosenberg D, Rouleau GA, Ruhrmann S, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Tischfield JA, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Shugart YY, Miguel EC, Nicolini H, Oostra BA, Moessner R, Wagner M, Ruiz-Linares A, Heutink P, Nestadt G, Freimer N, Petryshen T, Posthuma D, Jenike MA, Cox NJ, Hanna GL, Brentani H, Scherer SW, Arnold PD, Stewart SE, Mathews CA, Knowles JA, Cook EH, Pauls DL, Wang K, Scharf JM. “Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.Journal of the American Academy of Child and Adolescent Psychiatry. 2014 Aug;53(8):910-9. doi: 10.1016/j.jaac.2014.04.022. Epub 2014 Jun 24. PMCID: PMC4218748.

 

109.                 Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, Palotie A, Boerwinkle E, Buxbaum JD, Cook EH Jr, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Neale BM, Daly MJ. “A framework for the interpretation of de novo mutation in human disease.Nature Genetics. 2014 Sep;46(9):944-50. doi: 10.1038/ng.3050. Epub 2014 Aug 3. PMCID: PMC4222185.

 

110.                 Goldstein JI, Jarskog LF, Hilliard C, Alfirevic A, Duncan L, Fourches D, Huang H, Lek M, Neale BM, Ripke S, Shianna K, Szatkiewicz JP, Tropsha A, van den Oord EJ, Cascorbi I, Dettling M, Gazit E, Goff DC, Holden AL, Kelly DL, Malhotra AK, Nielsen J, Pirmohamed M, Rujescu D, Werge T, Levy DL, Josiassen RC, Kennedy JL, Lieberman JA, Daly MJ, Sullivan PF. “Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.” Nature Communications. 2014 Sep 4;5:4757. doi: 10.1038/ncomms5757. PMCID: PMC4155508.

 

111.                 Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB; GoT2D Consortium; NHGRI JHS/FHS Allelic Spectrum Project; SIGMA T2D Consortium; T2D-GENES Consortium*, Rosen ED, Altshuler D. “Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes”. Proceedings of the National Academy of Sciences U S A. 2014 Sep 9;111(36):13127-32. doi: 10.1073/pnas.1410428111. Epub 2014 Aug 25. Erratum in: Proc Natl Acad Sci U S A. 2014 Nov;11;111(45):16225. Estrada, Karol [added]; Mercader, Josep [added]; MacArthur, Daniel [added]. PMCID: PMC4246964.

 

112.                 Groen-Blokhuis MM, Middeldorp CM, Kan KJ, Abdellaoui A, van Beijsterveldt CE, Ehli EA, Davies GE, Scheet PA, Xiao X, Hudziak JJ, Hottenga JJ; Psychiatric Genomics Consortium ADHD Working Group, Neale BM, Boomsma DI. “Attention-deficit/hyperactivity disorder polygenic risk scores predict attention problems in a population-based sample of children”. Journal of the American Academy of Child and Adolescent Psychiatry. 2014 Oct;53(10):1123-9.e6. doi: 10.1016/j.jaac.2014.06.014. Epub 2014 Aug 19. PMID: 25245356 [PubMed - in process]

113.                 Robinson EB, Samocha KE, Kosmicki JA, McGrath L, Neale BM, Perlis RH, Daly MJ. “Autism spectrum disorder severity reflects the average contribution of de novo and familial influences”. Proceedings of the National Academy of Sciences of the United States of America. 2014 Oct 21;111(42):15161-5. doi: 10.1073/pnas.1409204111. Epub 2014 Oct 6. PMCID: PMC4210299.

 

114.                 Gusev A, Lee SH, Trynka G, Finucane H, Vilhjálmsson BJ, Xu H, Zang C, Ripke S, Bulik-Sullivan B, Stahl E; Schizophrenia Working Group of the Psychiatric Genomics Consortium; SWE-SCZ Consortium, Kähler AK, Hultman CM, Purcell SM, McCarroll SA, Daly M, Pasaniuc B, Sullivan PF, Neale BM, Wray NR, Raychaudhuri S, Price AL; Schizophrenia Working Group of the Psychiatric Genomics Consortium; SWE-SCZ Consortium. “Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases.” American Journal of Human Genetics. 2014 Nov 6;95(5):535-52. doi: 10.1016/j.ajhg.2014.10.004. Epub 2014 Nov 6. PMCID: PMC4225595.

 

115.                 De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. “Synaptic, transcriptional and chromatin genes disrupted in autism.” Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29. PMCID: PMC4402723.

 

116.                 Genovese G, Kähler AK, Handsaker RE, Lindberg J, Rose SA, Bakhoum SF, Chambert K, Mick E, Neale BM, Fromer M, Purcell SM, Svantesson O, Landén M, Höglund M, Lehmann S, Gabriel SB, Moran JL, Lander ES, Sullivan PF, Sklar P, Grönberg H, Hultman CM, McCarroll SA. “Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence.” The New England journal of medicine. 2014 Nov 26. PMCID: PMC4290021.

 

117.                 Murdoch JD, Gupta AR, Sanders SJ, Walker MF, Keaney J, Fernandez TV, Murtha MT, Anyanwu S, Ober GT, Raubeson MJ, DiLullo NM, Villa N, Waqar Z, Sullivan C, Gonzalez L, Willsey AJ, Choe SY, Neale BM, Daly MJ, State MW. No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. PLoS genetics. 2015;11(1):e1004852. doi: 10.1371/journal.pgen.1004852. PMCID: PMC4306541.

 

118.                 Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, Illmann C, McGrath LM, Mayerfeld C, Arepalli S, Barlassina C, Barr CL, Bellodi L, Benarroch F, Berrió GB, Bienvenu OJ, Black DW, Bloch MH, Brentani H, Bruun RD, Budman CL, Camarena B, Campbell DD, Cappi C, Silgado JC, Cavallini MC, Chavira DA, Chouinard S, Cook EH, Cookson MR, Coric V, Cullen B, Cusi D, Delorme R, Denys D, Dion Y, Eapen V, Egberts K, Falkai P, Fernandez T, Fournier E, Garrido H, Geller D, Gilbert D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Hardy J, Heiman GA, Hemmings SM, Herrera LD, Hezel DM, Hoekstra PJ, Jankovic J, Kennedy JL, King RA, Konkashbaev AI, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Lupoli S, Macciardi F, Maier W, Manunta P, Marconi M, McCracken JT, Mesa Restrepo SC, Moessner R, Moorjani P, Morgan J, Muller H, Murphy DL, Naarden AL, Nurmi E, Ochoa WC, Ophoff RA, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner T, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosário MC, Rosenberg D, Ruhrmann S, Sabatti C, Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Weale M, Weiss R, Wendland JR, Westenberg HG, Shugart YY, Hounie AG, Miguel EC, Nicolini H, Wagner M, Ruiz-Linares A, Cath DC, McMahon W, Posthuma D, Oostra BA, Nestadt G, Rouleau GA, Purcell S, Jenike MA, Heutink P, Hanna GL, Conti DV, Arnold PD, Freimer NB, Stewart SE, Knowles JA, Cox NJ, Pauls DL. “Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.” The American Journal of Psychiatry. 2014 Aug 26. doi:10.1176/appi.ajp.2014.13101306. PMCID: PMC4282594.

 

119.                 Neale BM, Sklar P. “Genetic analysis of schizophrenia and bipolar disorder reveals polygenicity but also suggests new directions for molecular interrogation.” Current opinion in neurobiology. 2015 Feb ;30:131-8. doi: 10.1016/j.conb.2014.12.001. Epub 2014 Dec 24. PubMed PMID: 25544106.

 

120.                 Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium*. “Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways”. Nature Neuroscience. 2015 Feb;18(2):199-209. doi: 10.1038/nn.3922. Epub 2015 Jan 19. PMCID: PMC4378867. (*member of the investigative team cited in the appendix of the manuscript)

 

121.                 Byrne EM; Psychiatric Genetics Consortium Major Depressive Disorder Working Group*, Raheja UK, Stephens SH, Heath AC, Madden PA, Vaswani D, Nijjar GV, Ryan KA, Youssufi H, Gehrman PR, Shuldiner AR, Martin NG, Montgomery GW, Wray NR, Nelson EC, Mitchell BD, Postolache TT. “Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder. Journal of Clinical Psychiatry. 2015 Feb;76(2):128-34. doi: 10.4088/JCP.14m08981. PMCID: PMC4527536. (*member of the investigative team cited in the appendix of the manuscript)

 

122.                 Maier R, Moser G, Chen GB, Ripke S; Cross-Disorder Working Group of the Psychiatric Genomics Consortium*, Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultman CM, Landén M, Levinson DF, Kendler KS, Smoller JW, Wray NR, Lee SH. “Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder”. American Journal of Human Genetics. 2015 Feb 5;96(2):283-94. doi: 10.1016/j.ajhg.2014.12.006. Epub 2015 Jan 29. PMCID: PMC4320268. (*member of the investigative team cited in the appendix of the manuscript)

 

123.                 Bulik-Sullivan BK, Loh PR, Finucane HK, Ripke S, Yang J; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Patterson N, Daly MJ, Price AL, Neale BM. “LD Score regression distinguishes confounding from polygenicity in genome-wide association studies.” Nature Genetics. 2015 Mar;47(3):291-5. doi: 10.1038/ng.3211. Epub 2015 Feb 2. PMCID: PMC4495769.

 

124.                 Loh PR, Tucker G, Bulik-Sullivan BK, Vilhjálmsson BJ, Finucane HK, Salem RM, Chasman DI, Ridker PM, Neale BM, Berger B, Patterson N, Price AL. “Efficient Bayesian mixed-model analysis increases association power in large cohorts”. Nature genetics. 2015;47(3):284-90. doi: 10.1038/ng.3190. PMCID: PMC4342297.

 

125.                 Stitziel NO, Peloso GM, Abifadel M, Cefalu AB, Fouchier S, Motazacker MM, Tada H, Larach DB, Awan Z, Haller JF, Pullinger CR, Varret M, Rabès JP, Noto D, Tarugi P, Kawashiri MA, Nohara A, Yamagishi M, Risman M, Deo R, Ruel I, Shendure J, Nickerson DA, Wilson JG, Rich SS, Gupta N, Farlow DN, Neale BM, Daly MJ, Kane JP, Freeman MW, Genest J, Rader DJ, Mabuchi H, Kastelein JJ, Hovingh GK, Averna MR, Gabriel S, Boileau C, Kathiresan S. “Exome sequencing in suspected monogenic dyslipidemias”. Circulation: Cardiovascular Genetics. 2015 Apr;8(2):343-50. doi: 10.1161/CIRCGENETICS.114.000776. Epub 2015 Jan 27. PMCID: PMC4406825.

 

126.                 Robinson EB, Kirby A, Ruparel K, Yang J, McGrath L, Anttila V, Neale BM, Merikangas K, Lehner T, Sleiman PM, Daly MJ, Gur R, Gur R, Hakonarson H. “The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort.Molecular Psychiatry. 2014 Jul 15. doi: 10.1038/mp.2014.65. PMCID: PMC4294962.

 

127.                 Peyrot WJ, Lee SH, Milaneschi Y, Abdellaoui A, Byrne EM, Esko T, de Geus EJ, Hemani G, Hottenga JJ, Kloiber S, Levinson DF, Lucae S; Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium (Corporate Collaborator)*, Martin NG, Medland SE, Metspalu A, Milani L, Noethen MM, Potash JB, Rietschel M, Rietveld CA, Ripke S, Shi J; Social Science Genetic Association Consortium (Corporate Collaborator), Willemsen G, Zhu Z, Boomsma DI, Wray NR, Penninx BW; Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium Corporate Collaborator; Social Science Genetic Association Consortium Corporate Collaborator. “The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25 000 subjects”. Molecular Psychiatry. 2015 Jun;20(6):735-743. doi: 10.1038/mp.2015.50. Epub 2015 Apr 28. PMCID: PMC4610719. (*member of the investigative team cited in the appendix of the manuscript).

 

128.                 Heinzen EL, Neale BM, Traynelis SF, Allen AS, Goldstein DB. “The Genetics of Neuropsychiatric Diseases: Looking In and Beyond the Exome”. Annual Review Neuroscience. 2015 Apr 2. [Epub ahead of print] PubMed PMID: 25840007.

 

129.                 Aebi M, van Donkelaar MM, Poelmans G, Buitelaar JK, Sonuga-Barke EJ, Stringaris A, Consortium I*, Faraone SV, Franke B, Steinhausen HC, van Hulzen KJ. “Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder”. American Journal of Medical Genetics Part B:Neuropsychiatric Genetics. 2015 Jul 16. doi: 10.1002/ajmg.b.32346. [Epub ahead of print] PMCID: PMC4715802. (*member of the investigative team cited in the appendix of the manuscript).

 

130.                 Lee SH, Byrne EM, Hultman CM, Kähler A, Vinkhuyzen AA, Ripke S, Andreassen OA, Frisell T, Gusev A, Hu X, Karlsson R, Mantzioris VX, McGrath JJ, Mehta D, Stahl EA, Zhao Q, Kendler KS, Sullivan PF, Price AL, O'Donovan M, Okada Y, Mowry BJ, Raychaudhuri S, Wray NR; Schizophrenia Working Group of the Psychiatric Genomics Consortium and Rheumatoid Arthritis Consortium International; Schizophrenia Working Group of the Psychiatric Genomics Consortium authors, Byerley W, Cahn W, Cantor RM, Cichon S, Cormican P, Curtis D, Djurovic S, Escott-Price V, Gejman PV, Georgieva L, Giegling I, Hansen TF, Ingason A, Kim Y, Konte B, Lee PH, McIntosh A, McQuillin A, Morris DW, Nöthen MM, O'Dushlaine C, Olincy A, Olsen L, Pato CN, Pato MT, Pickard BS, Posthuma D, Rasmussen HB, Rietschel M, Rujescu D, Schulze TG, Silverman JM, Thirumalai S, Werge T; Schizophrenia Working Group of the Psychiatric Genomics Consortium collaborators, Agartz I, Amin F, Azevedo MH, Bass N, Black DW, Blackwood DH, Bruggeman R, Buccola NG, Choudhury K, Cloninger RC, Corvin A, Craddock N, Daly MJ, Datta S, Donohoe GJ, Duan J, Dudbridge F, Fanous A, Freedman R, Freimer NB, Friedl M, Gill M, Gurling H, De Haan L, Hamshere ML, Hartmann AM, Holmans PA, Kahn RS, Keller MC, Kenny E, Kirov GK, Krabbendam L, Krasucki R, Lawrence J, Lencz T, Levinson DF, Lieberman JA, Lin DY, Linszen DH, Magnusson PK, Maier W, Malhotra AK, Mattheisen M, Mattingsdal M, McCarroll SA, Medeiros H, Melle I, Milanova V, Myin-Germeys I, Neale BM, Ophoff RA, Owen MJ, Pimm J, Purcell SM, Puri V, Quested DJ, Rossin L, Ruderfer D, Sanders AR, Shi J, Sklar P, St Clair D, Scott Stroup T, Van Os J, Visscher PM, Wiersma D, Zammit S; Rheumatoid Arthritis Consortium International authors, Louis Bridges S Jr, Choi HK, Coenen MJ, de Vries N, Dieud P, Greenberg JD, Huizinga TW, Padyukov L, Siminovitch KA, Tak PP, Worthington J; Rheumatoid Arthritis Consortium International collaborators, De Jager PL, Denny JC, Gregersen PK, Klareskog L, Mariette X, Plenge RM, van Laar M, van Riel P. “New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis”. International Journal of Epidemiology. 2015 Aug 18. pii: dyv136. [Epub ahead of print] PMID: 26286434.

 

131.                 Peloso GM, Rader DJ, Gabriel S, Kathiresan S, Daly MJ, Neale BM. “Phenotypic extremes in rare variant study designs”. European Journal of Human Genetics. 2015 Sep 9. doi: 10.1038/ejhg.2015.197. [Epub ahead of print] PMID: 26350511.

 

132.                 Howrigan DP, Simonson MA, Davies G, Harris SE, Tenesa A, Starr JM, Liewald DC, Deary IJ, McRae A, Wright MJ, Montgomery GW, Hansell N, Martin NG, Payton A, Horan M, Ollier WE, Abdellaoui A, Boomsma DI, DeRosse P, Knowles EE, Glahn DC, Djurovic S, Melle I, Andreassen OA, Christoforou A, Steen VM, Hellard SL, Sundet K, Reinvang I, Espeseth T, Lundervold AJ, Giegling I, Konte B, Hartmann AM, Rujescu D, Roussos P, Giakoumaki S, Burdick KE, Bitsios P, Donohoe G, Corley RP, Visscher PM, Pendleton N, Malhotra AK, Neale BM, Lencz T, Keller MC. “Genome-wide autozygosity is associated with lower general cognitive ability”. Molecular Psychiatry. 2015 Sep 22. doi: 10.1038/mp.2015.120. [Epub ahead of print] PubMed PMID: 26390830.

 

133.                 de Leeuw C, Goudriaan A, Smit AB, Yu D, Mathews CA, Scharf JM; Tourette Syndrome Association International Consortium for Genetics*, Verheijen MH, Posthuma D. “Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis”. European Journal of Human Genetics. 2015 Nov;23(11):1519-22. doi: 10.1038/ejhg.2015.22. Epub 2015 Mar 4. PMCID: PMC4613465. (*member of the investigative team cited in the appendix of the manuscript)

 

134.                 Bulik-Sullivan B, Finucane H, Anttila V, Gusev A, Day F, Loh P, ReproGen Consortium, Psychiatric Genomics Consortium, Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium, Duncan L, Perry J, Patterson N, Robinson E, Daly M, Price A, Neale B*. “An Atlas of Genetic Correlations across Human Diseases and Traits”. Nature Genetics. 2015 Nov;47(11):1236-41. doi: 10.1038/ng.3406. Epub 2015 Sep 28. PMID: 26414676 [PubMed - in process] (* Shared First Author)

135.                 Day FR, Ruth KS, Thompson DJ, Lunetta KL, Pervjakova N, Chasman DI, Stolk L, Finucane HK, Sulem P, Bulik-Sullivan B, Esko T, Johnson AD, Elks CE, Franceschini N, He C, Altmaier E, Brody JA, Franke LL, Huffman JE, Keller MF, McArdle PF, Nutile T, Porcu E, Robino A, Rose LM, Schick UM, Smith JA, Teumer A, Traglia M, Vuckovic D, Yao J, Zhao W, Albrecht E, Amin N, Corre T, Hottenga JJ, Mangino M, Smith AV, Tanaka T, Abecasis GR, Andrulis IL, Anton-Culver H, Antoniou AC, Arndt V, Arnold AM, Barbieri C, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernstein L, Bielinski SJ, Blomqvist C, Boerwinkle E, Bogdanova NV, Bojesen SE, Bolla MK, Borresen-Dale AL, Boutin TS, Brauch H, Brenner H, Brüning T, Burwinkel B, Campbell A, Campbell H, Chanock SJ, Chapman JR, Chen YD, Chenevix-Trench G, Couch FJ, Coviello AD, Cox A, Czene K, Darabi H, De Vivo I, Demerath EW, Dennis J, Devilee P, Dörk T, Dos-Santos-Silva I, Dunning AM, Eicher JD, Fasching PA, Faul JD, Figueroa J, Flesch-Janys D, Gandin I, Garcia ME, García-Closas M, Giles GG, Girotto GG, Goldberg MS, González-Neira A, Goodarzi MO, Grove ML, Gudbjartsson DF, Guénel P, Guo X, Haiman CA, Hall P, Hamann U, Henderson BE, Hocking LJ, Hofman A, Homuth G, Hooning MJ, Hopper JL, Hu FB, Huang J, Humphreys K, Hunter DJ, Jakubowska A, Jones SE, Kabisch M, Karasik D, Knight JA, Kolcic I, Kooperberg C, Kosma VM, Kriebel J, Kristensen V, Lambrechts D, Langenberg C, Li J, Li X, Lindström S, Liu Y, Luan J, Lubinski J, Mägi R, Mannermaa A, Manz J, Margolin S, Marten J, Martin NG, Masciullo C, Meindl A, Michailidou K, Mihailov E, Milani L, Milne RL, Müller-Nurasyid M, Nalls M, Neale BM, Nevanlinna H, Neven P, Newman AB, Nordestgaard BG, Olson JE, Padmanabhan S, Peterlongo P, Peters U, Petersmann A, Peto J, Pharoah PD, Pirastu NN, Pirie A, Pistis G, Polasek O, Porteous D, Psaty BM, Pylkäs K, Radice P, Raffel LJ, Rivadeneira F, Rudan I, Rudolph A, Ruggiero D, Sala CF, Sanna S, Sawyer EJ, Schlessinger D, Schmidt MK, Schmidt F, Schmutzler RK, Schoemaker MJ, Scott RA, Seynaeve CM, Simard J, Sorice R, Southey MC, Stöckl D, Strauch K, Swerdlow A, Taylor KD, Thorsteinsdottir U, Toland AE, Tomlinson I, Truong T, Tryggvadottir L, Turner ST, Vozzi D, Wang Q, Wellons M, Willemsen G, Wilson JF, Winqvist R, Wolffenbuttel BB, Wright AF, Yannoukakos D, Zemunik T, Zheng W, Zygmunt M, Bergmann S, Boomsma DI, Buring JE, Ferrucci L, Montgomery GW, Gudnason V, Spector TD, van Duijn CM, Alizadeh BZ, Ciullo M, Crisponi L, Easton DF, Gasparini PP, Gieger C, Harris TB, Hayward C, Kardia SL, Kraft P, McKnight B, Metspalu A, Morrison AC, Reiner AP, Ridker PM, Rotter JI, Toniolo D, Uitterlinden AG, Ulivi S, Völzke H, Wareham NJ, Weir DR, Yerges-Armstrong LM; PRACTICAL Consortium; kConFab Investigators; AOCS Investigators; Generation Scotland; EPIC-InterAct Consortium; LifeLines Cohort Study, Price AL, Stefansson K, Visser JA, Ong KK, Chang-Claude J, Murabito JM, Perry JR, Murray A. “Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair”. Nature Genetics. 2015 Nov;47(11):1294-303. doi: 10.1038/ng.3412. Epub 2015 Sep 28. PMID: 26414677. PMCID: PMC4661791  [Available on 2016-05-01]

 

136.                 Finucane HK, Bulik-Sullivan B, Gusev A, Trynka G, Reshef Y, Loh PR, Anttila V, Xu H, Zang C, Farh K, Ripke S, Day FR; ReproGen Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; RACI Consortium, Purcell S, Stahl E, Lindstrom S, Perry JR, Okada Y, Raychaudhuri S, Daly MJ, Patterson N, Neale BM*, Price AL. “Partitioning heritability by functional annotation using genome-wide association summary statistics”. Nature Genetics. 2015 Nov;47(11):1228-35. doi: 10.1038/ng.3404. Epub 2015 Sep 28. PMCID: PMC4626285. (* Shared First Author)

 

137.                 Robinson EB, Neale BM, Hyman SE. “Genetic research in autism spectrum disorders”. Current Opinion in Pediatrics. 2015 Dec;27(6):685-91. doi: 10.1097/MOP.0000000000000278. PMCID: PMC4650984.

 

138.                 Loh PR, Bhatia G, Gusev A, Finucane HK, Bulik-Sullivan BK, Pollack SJ; Schizophrenia Working Group of the Psychiatric Genomics Consortium, de Candia TR, Lee SH, Wray NR, Kendler KS, O'Donovan MC, Neale BM, Patterson N, Price AL. “Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis”. Nature Genetics. 2015 Dec;47(12):1385-92. doi: 10.1038/ng.3431. Epub 2015 Nov 2. PMCID: PMC4666835.

 

139.                 Franke B, Stein JL, Ripke S, Anttila V, Hibar DP, van Hulzen KJ, Arias-Vasquez A, Smoller JW, Nichols TE, Neale MC, McIntosh AM, Lee P, McMahon FJ, Meyer-Lindenberg A, Mattheisen M, Andreassen OA, Gruber O, Sachdev PS, Roiz-Santiañez R, Saykin AJ, Ehrlich S, Mather KA, Turner JA, Schwarz E, Thalamuthu A, Yao Y, Ho YY, Martin NG, Wright MJ; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Psychosis Endophenotypes International Consortium; Wellcome Trust Case Control Consortium 2; Enigma Consortium, O'Donovan MC, Thompson PM, Neale BM*, Medland SE, Sullivan PF. “Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept”. Nature Neuroscience. 2016 Feb 1. doi: 10.1038/nn.4228. [Epub ahead of print] PubMed PMID: 26854805. (* Shared First Author)

 

Peer reviewed publications in print or other media

1.         Van den Oord EJ, Neale BM. “Will haplotype maps be useful for finding genes?” Molecular Psychiatry. 2004 Mar;9(3):227-36.

 

2.     Banaschewski T, Neale BM, Rothenberger A, Roessner V  “Comorbidity of tic disorders & ADHD: conceptual and methodological considerations”. European Child & Adolescent Psychiatry. 2007 Jun;16 Suppl 1:5-14. doi: 10.1007/s00787-007-1002-8.

 

3.     Neale BM, Purcell S. “The positives, protocols, and perils of genome-wide association”. American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 2008 Oct 5;147B(7):1288-94. doi: 10.1002/ajmg.b.30747.

 

4.         Psychiatric GWAS Consortium Coordinating Committee*, Cichon S, Craddock N, Daly M, Faraone SV, Gejman PV, Kelsoe J, Lehner T, Levinson DF, Moran A, Sklar P, Sullivan PF. “Genomewide association studies: history, rationale, and prospects for psychiatric disorders”. American Journal of Psychiatry. 2009 May;166(5):540-56. doi: 10.1176/appi.ajp.2008.08091354. Epub 2009 Apr 1. Review. PMID: 19339359 (*member of consortium)

 

5.     Franke B, Neale BM, Faraone SV. “Genome-wide association studies in ADHD”. Human Genetics. 2009 Jul;126(1):13-50. doi: 10.1007/s00439-009-0663-4. Review. PMCID: PMC3774416.

 

6.     Neale BM. “Introduction to linkage disequilibrium, the HapMap, and imputation”. Cold Spring Harb Protoc. 2010 Mar;2010(3):pdb.top74.

 

7.     de Bakker PI, Neale BM, Daly MJ. “Meta-analysis of genome-wide association studies”. Cold Spring Harb Protoc. 2010 Jun;2010(6):pdb.top81. doi: 10.1101/pdb.top81. PubMed PMID: 20516189.

 

Non-peer reviewed scientific or medical publications/materials in print or other media

Editor:

  1. Neale, B.M., Ferreira, M.A., Medland, S. and Posthuma, D. (eds.) (2007) Statistical Genetics: Genemapping through linkage and association. 1st ed. Taylor and Francis, London.

 

Book Chapters:

  1. Neale, B.M., Linkage Disequilibrium and Tagging, Statistical Genetics: Genemapping through linkage and association. (2007)

 

  1. Knight J., Sham P.C., Purcell S., Neale B.M., Multi-locus Association, Statistical Genetics: Genemapping through linkage and association. (2007)

 

  1. Neale B.M., Medland S.E., Neale M.C. Association Analysis, Encyclopedia of Quantitative Risk Analysis and Assessment (2008)

 

  1. de Bakker P.I.W., Neale B.M., Daly M.J. Meta-analysis of Genome-wide Association, Genetics of Complex Human Diseases: A Laboratory Manual (eds. Al-Chalabi and Almasy).

 

  1. Neale B.M., Introduction to Linkage Disequilibrium, the HapMap, and Imputation, Genetics of Complex Human Diseases: A Laboratory Manual (eds. Al-Chalabi and Almasy).

 

Professional educational materials or reports, in print or other media – Not Applicable

Clinical Guidelines and Reports – Not Applicable

Thesis

Neale, BM. 2010. The Development and Application of Statistical Techniques for Genome-wide Association in the International Multi-site ADHD Genetics Sample. PhD (Statistical Genetics), King’s College

 

Abstracts, Poster Presentations and Exhibits Presented at Professional Meetings

N/A

Narrative Report

My research focuses heavily on the development and application of statistical methodology to understand genetic risk to common disease and uncover novel biology. I primarily focus on psychiatric genetics, in particular developmental phenotypes such as Attention Deficit/Hyperactivity Disorder (ADHD) and Autism. I also substantively contribute to the broader genetics community by developing statistical methods, such as the C-alpha approach for testing rare variants and by designing the exome chip, a genotyping platform that has sold in excess of one million units. Beyond investigation, I have a strong commitment to teaching as demonstrated by my contribution to two separate weeklong workshops on genetic analysis each year. I currently supervise two post-doctoral fellows directly and mentor a wide range of junior investigators and trainees in statistical methods. For administration, I am a member of the executive committee of the Behavior Genetics Association, a co-director of the International Workshop on Statistical Genetics Methods for Human Complex Traits and lead the analysis group of the ADHD Psychiatric Genomics Consortium.

Investigation: I have edited a book title “Statistical Genetics: Gene-mapping through Linkage and Association” and published methodological work in PLoS Genetics and the American Journal of Human Genetics on the analysis of common and rare variation. I led the analysis of the Autism ARRA sequencing study, culminating in a first author publication in Nature. I also led the design of the exome chip, a genotyping platform that has sold for over one million samples. Currently I am designing the PsychChip, a custom-built platform that will power the next round of genetic discoveries in psychiatry.

I have conducted genome-wide association studies on ADHD, Autism, Tourette Syndrome and Obsessive-Compulsive Disorder. I founded and lead the ADHD Genetics Initiative at the Broad Institute, which houses the world’s largest biorepository of ADHD samples. I am currently Principal Investigator on 1R01MH094469-01A1, “Quantifying the impact of rare variants on ADHD,” with aims to genotype over 5,000 samples on the exome chip. I am also co-Principal Investigator on a methods application titled “Statistical methods for studies of rare variants,” which just received a 2nd percentile and is aimed the interpretation of rare variation.

Teaching: I am strongly committed to teaching. I spend two weeks a year teaching on workshops devoted to the analysis of genetic data. Every other year, I teach at Cold Spring Harbor Laboratory course on the Genetics of Complex Human Diseases. I also teach on the Clinical Research Program at MGH and the genetics primer at the Broad Institute.

Administration: I am a member of the Behavior Genetics Association executive committee, and am a member of the ADHD, Analysis, Autism, CNV, Cross-Disorder, and Schizophrenia groups of the PGC, lead the analysis committee for the PGC ADHD subgroup, and am a member of the steering committee for the Tourette Syndrome Association International Consortium for Genetics and am co-director for the International Workshop on Statistical Genetics Methods for Human Complex Traits. I also am on the organizing committee for the World Congress of Psychiatric Genetics meeting in Boston.