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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
New approaches to increase rare disease diagnoses in GREGoR Montgomery, Stephen Genomics of Rare Disease March 23-26, 2023 04/04/2023 Not available
Variants in Cohesin Release Factors WAPL, PDS5A, and PDS5B Define a New Class of Cohesinopathies Boone, Philip ACMG March 14-17, 2023 03/27/2023 159
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 03/07/2023 O04
Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort Groopman, Emily ACMG - American College of Medical Genetics and Genomics March 14-18 03/07/2023 P474
Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females Miller, Danny ACMG - American College of Medical Genetics and Genomics March 14-18, 2023 02/24/2023 P672
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 12/18/2022 NA
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 10/19/2022 ProgNbr 553
Multi-omic approach identifies a novel non-coding deletion at Xq28 in a patient with X-linked primary immunodeficiency. Bonner, Devon ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/18/2022 PB1922
Exome technology innovations advancing personalized medicine Walker, Kimberly ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/14/2022 PB2988
Application of RNA sequencing on transdifferentiated patient fibroblasts for genetic diagnosis of neurological disorders Liu, Pengfei ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/14/2022 434
The Multiple de novo Copy Number Variant (MdnCNV) phenomenon: peri-zygotic DNA mutational signatures and multilocus pathogenic variations Haowei Du ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB2703
TCEAL1 loss-of-function results in an X-linked dominant neurological syndrome and drives the neurological disease trait in Xq22.2 deletion Hadia Hijazi ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1981
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder with intellectual disability and variable marfanoid habitus A. Garde ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1974
Saturation genome editing reveals 10% of missense SNV alleles in functional domains of PALB2 as functionally abnormal Moez Dawood ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 ProgNbr 147
Monoallelic variation in the DExH-box helicase DHX9, a product of the DHX9 gene paralog, perturbs neurodevelopment & causes peripheral nerve axon degeneration Daniel Calame ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1920
Large-scale multimodal genomic analyses of 150 consanguineous kindreds from the Middle East and North Africa uncover novel neurodevelopmental disease mechanisms Ruizhi (Vince) Duan ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1898
ITGB8 is a candidate disease gene for autosomal dominant and recessive trait forms of muscular dystrophy and neurological disease Scott Barish ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1895
Integrating Genomic and Phenotypic Analyses of Autonomic Nervous System Dysfunction in a Rare Neurological Disease Cohort Andy Rivera ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1888
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 10/05/2022 PB2303
FOXI3 pathogenic variants cause one form of craniofacial microsomia Stylianos Antonarakis ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB2586
Deleterious SNAPC4 Variants are Associated with a Neurodevelopmental Disorder F. G. Frost ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1810
Biallelic RAD51C loss-of-function variants drive perizygotic SNV/indel hypermutator phenotype in a subject with Fanconi anemia complementation group O Roni Zemet Lazar ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 PB1771
Bi-allelic variants in SPOUT1, an RNA methyltransferase functioning in spindle organization, cause a novel neurodevelopment disorder Avinash Dharmadhikari ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/05/2022 ProgNbr 463
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode Marafi, Dana ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/04/2022 ProgNbr 090
A multiomics approach to resolving small supernumerary marker chromosomes Grochowski, Christopher M. ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 10/04/2022 PB2248
Performance of diagnostic methods in identifying disease-causing variants: assessment of the Rare Genomes Project CAGI challenge Sarah L. Stenton ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 09/21/2022 ProgNbr 052