Abstracts

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

Title	Lead Author	Name of Professional Meeting	Meeting Date(s) Sort ascending	Submitted	Program #/ID
Data sharing in the GREGoR Consortium to support rare genetic disease research.	Heavner, Ben	ASHG - American Society of Human Genetics Annual Meeting	November 1-5, 2023	06/08/2023	not available
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	06/13/2023	na
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	08/08/2023	n/a
Investigating the genetic and phenotypic landscape of Ectodermal Dysplasia	Munderloh, Chloe	ASHG - American Society of Human Genetics Annual Meeting	November 1-5, 2023	08/10/2023	3051
Complex genetic architecture underlying craniofacial microsomia	Gogate, Nikhita	ASHG - American Society of Human Genetics Annual Meeting	November 1-5, 2023	08/10/2023	3787
Elucidating the genetic etiology underlying septo-optic dysplasia (SOD)	Beheshti, Shaghayegh	ASHG - American Society of Human Genetics Annual Meeting	November 1-5, 2023	08/14/2023	2023-A-3727-ASHG
ARHGAP1 identified as a candidate gene for a novel autosomal dominant syndromic neurodevelopmental disorder.	Mendez, Hector Rodrigo	ASHG - American Society of Human Genetics Annual Meeting	November 1-5, 2023	08/15/2023	2023-A-1571-ASHG
Break-induced replication mediated by inverted repeats underlie formation of pathogenic inverted triplications	Grochowski, Christopher	ASHG - American Society of Human Genetics Annual Meeting	November 1-5, 2023	08/15/2023	2023-A-3165-ASHG
BCM-GREGoR: A rare disease program to solve the unsolved with novel methods and analytical approaches	Jhangiani, Shalini	ASHG - American Society of Human Genetics Annual Meeting	November 1-5, 2023	08/21/2023	N/A
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	08/25/2023	2023-A-2794-ASHG
Driver project for advancing long-read de novo genome assembly methods in clinical research	Délot, Emmanuèle	ASHG	Nov 1-5, 2023	09/12/2023	2023-A-4146-ASHG
Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing	Cohen, Andrea J.	ASHG - American Society of Human Genetics Annual Meeting	Nov 1-5, 2023	09/12/2023	2023-A-3728-ASHG
Most genes are predicted to be Mendelian disease genes: implications for rare and common diseases	Chong, Jessica	ASHG - American Society of Human Genetics Annual Meeting	Nov 1-5, 2023	10/31/2023	PB4876
Relative contribution of variant prioritization and phenotype similarity to performance of automatic genome analysis algorithms	Khanam, Shirin	ASHG - American Society of Human Genetics Annual Meeting	Nov 1-5, 2023	10/31/2023	PB3269
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	10/31/2023	Sat Nov 4 10:45am-11am Presenter 004

Download CSV

Search