| 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 |
| 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 |
| 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 |
| 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 |
| Exome technology innovations advancing personalized medicine |
Walker, Kimberly |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB2988 |
| 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 |
| 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 |
|
ProgNbr 052 |
| 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 |
| 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 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 |
| Deleterious SNAPC4 Variants are Associated with a Neurodevelopmental Disorder |
F. G. Frost |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB1810 |
| FOXI3 pathogenic variants cause one form of craniofacial microsomia |
Stylianos Antonarakis |
ASHG - American Society of Human Genetics Annual Meeting |
October 25-29, 2022 |
|
PB2586 |
| 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 |
|
PB2303 |
| 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 |
|
PB1888 |
