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Abstracts to be presented at ASHG 2024
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DateTime (MT)TitleLead AuthorProgram #/ID
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Wednesday, November 6th9:00 - 9:15 amBiallelic UGGT1 gene variants cause a congenital disorder of glycosylationDardas, Zain
2024-A-1747-ASHG
Platform Talk
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2:30 - 4:30 pmElucidating the role of de novo structural variations in a Mendelian disease cohort consisting of 169 familiesJamsandekar, Minal2031W
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Thursday, November 7th2:30 - 4:30 pmVariants in FGF20 underlie a novel breast malformationBuckingham, Kati2079T
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Racial disparities in access to a precise genetic diagnosis are not due to differences in diagnostic yieldsChong, Jessica3062T
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Investigating the role of the GABA transporter Solute carrier 6 member 1 (SLC6A1) in Mendelian disease traitsGogate, Nikhita2049T
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Partial methylation of a pathogenic XYLT1 repeat expansion associated with intrafamilial variation in severity of Desbuquois dysplasia 2Gordon, William2066T
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Functional assessment of Dishevelled pathogenic variants in Robinow syndromeSinha Roy, Rituparna6039T
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Generating and sharing valuable rare disease data via the GREGoR ConsortiumWheeler, Marsha2036T
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Friday, November 8th11:15 - 11:30 amBenchmarking detection of technically challenging pathogenic variants with long-read sequencing and a head-to-head comparison with short-read sequencing in a clinical diagnostic laboratoryDevaney, Joseph#3876
Platform Talk
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11:30 - 11:45 amA variety of molecular mechanisms cause copy number gains at 17p11.2 locus causing Potocki-Lupski syndrome: understanding patients with CNVs that do not include RAI1 Pande, Shruti
2024-A-2882-ASHG
Platform Talk
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2:30 - 4:30 pmInvestigating the genetic etiologies underlying septo-optic dysplasia (SOD)Beheshti, Shaghayegh2051F
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A multi-omics approach improves the diagnosis and understanding of inborn errors of immunityBonner, Devon2006F
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Reducing Variant Classification Disparities Using Multiplexed Functional DataDawood, Moez6066F
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Novel Strategies and Analytical Methods in Tackling Unresolved Rare Diseases: The Approach of the BCM-GREGoR ProgramJhangiani, Shalini2061F
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Prediction at scale of lumping and splitting decisions to define monogenic gene-disease entitiesKhanam, Shirin4120F
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Whole exome sequencing and metabolomics screening of a Kobberling Familial Partial Lipodystrophy cohort identifies new candidate genes and dysregulated pathwaysMarvin, Colby T2078F
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Investigating the genetic and phenotypic landscape of ectodermal dysplasiaMunderloh, Chloe2050F
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De novo variants in GTF2H1 underlie variable syndromic developmental delayPatterson, Karynne2027F
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Genomic Rare Variant Mechanisms for Congenital Cardiac Laterality Defect: A Digenic Model Approach.Rai, Archana5075F
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Technical and ethical considerations and guidelines for return of RNA-seq results for rare disease research participantsUngar, Rachel7083F
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*Titles link to program/poster submission on GREGoR Consortium website (gregorconsortium.org)
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