A multi-omics approach to the characterization of a novel repeat expansion in FAM193B in a family with oculopharyngodistal myopathy |
Reuter, Chloe |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
TBD |
A multiomics approach to resolving small supernumerary marker chromosomes |
Grochowski, Christopher M. |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB2248 |
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 |
|
ProgNbr 090 |
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 |
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 |
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 |
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 |
|
2023-A-1571-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 |
|
N/A |
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 |
|
ProgNbr 463 |
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 |
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 |
|
PB1771 |
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 |
|
2023-A-3165-ASHG |
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 |
Complex genetic architecture underlying craniofacial microsomia |
Gogate, Nikhita |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
3787 |
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 |
|
not available |