Variants in Cohesin Release Factors WAPL, PDS5A, and PDS5B Define a New Class of Cohesinopathies |
Boone, Philip |
ACMG |
March 14-17, 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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
PB1922 |
Exome technology innovations advancing personalized medicine |
Walker, Kimberly |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
PB1898 |