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
MECP2 copy number variants studied by multiple approaches reveal impact of genomic structure to disease variability Bengtsson, Jesse 2023 American Society of Human Genetics Annual Meeting November 1-5 2023-A-2794-ASHG
Biallelic FLVCR1 variants cause a disease spectrum from adult neurodegeneration to severe neurodevelopmental disorders through disrupted choline transport Calame, Daniel ASHG November 1-5, 2023 n/a
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
New approaches to increase rare disease diagnoses in GREGoR Montgomery, Stephen Genomics of Rare Disease March 23-26, 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 159
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
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 ProgNbr 147
Long-read sequencing of 1000 Genomes Project samples to catalog normal patterns of human genome structural variation Gustafson, Jonas ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 na
A VUS re-analysis: Understanding the likely disease-mechanism of a de novo missense variant in RALA using public bioinformatic tools Wiel, Laurens ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 PB1019
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 PB1974
Unraveling the Intrafamilial Phenotypic Variability in Sibling Pairs with Neurodevelopmental Diseases Bozkurt-Yozgatli, Tugce ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 2023-A-3286-ASHG
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 PB1981
Investigating the genetic and phenotypic landscape of Ectodermal Dysplasia Munderloh, Chloe ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 3051
Clinical exome sequencing efficacy and phenotypic expansions in Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Rivera-Munoz, Andres ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 2023-A-1625-ASHG
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 PB2703
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