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Publications
Abstracts
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
Sort ascending
Program #/ID
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
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