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 |