Abstracts

Below is a list of a list of submitted GREGoR Consortium conference abstracts.

Title Lead Author Name of Professional Meeting Meeting Date(s) Submitted Program #/ID
Deleterious SNAPC4 Variants are Associated with a Neurodevelopmental Disorder F. G. Frost ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB1810
Developing a Framework for Sequence Variant Interpretation for Multiple X-linked Inborn Errors of Metabolism: The ClinGen IEM Working Group Experience Groopman, Emily ACMG - American College of Medical Genetics and Genomics March 14-18 O04
Diagnostic Utility of Genome-wide DNA Methylation Screening to Identify Molecular Causes of Genetically Unsolved Developmental and Epileptic Encephalopathies LaFlamme, Christy ASHG - American Society of Human Genetics Annual Meeting Nov 1-5, 2023 Sat Nov 4 10:45am-11am Presenter 004
Driver project for advancing long-read de novo genome assembly methods in clinical research Délot, Emmanuèle ASHG Nov 1-5, 2023 2023-A-4146-ASHG
Elucidating the genetic etiology underlying septo-optic dysplasia (SOD) Beheshti, Shaghayegh ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 2023-A-3727-ASHG
Evaluation of missing disease-causing variation in autosomal recessive conditions using long-read sequencing Patterson, Karynne ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 TBD
Exome technology innovations advancing personalized medicine Walker, Kimberly ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2988
Expanding the range of WNT signaling syndromes: a promoter variant in WNT9B is a candidate in a case with Femoral Facial syndrome. Marvin, Colby ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 PB4755
FOXI3 pathogenic variants cause one form of craniofacial microsomia Stylianos Antonarakis ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2586
Genome reference impacts RNA-seq interpretation and rare disease diagnosis Goddard, Pagé and Ungar, Rachel ASHG - American Society of Human Genetics Annual Meeting Oct 25-29, 2022 ProgNbr 553
Genome-wide investigation of potentially pathogenic copy number variants & mechanisms fomenting their origins Zain Dardas ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2303
Genomic analyses of 281 consanguineous kindreds from the Middle East and North Africa facilitate the discovery of novel recessive neurodevelopmental rare disease traits Duan, Ruizhi ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 PB4786
Genomic Rare Variant Mechanisms for Congenital Cardiac Laterality Defect: A Digenic Model Approach. Rai, Archana ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 PB1568
Heterozygous Loss-of-Function Variants in SMC3: Lessons for the ‘Medium-Hanging Fruit’ Era of Mendelian Disease Gene Discovery Boone, Philip ASHG - American Society of Human Genetics Annual Meeting Nov 1-4, 2023 2023-A-1559-ASHG
Identification of TUBGCP2 and CAMSAP1 as novel neuronal migration disorder associated genes Mitani, Tadahiro 65th Annual Meeting of the Japanese Society of Child Neurology May 25-27, 2023 NA
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