| Unraveling the Intrafamilial Phenotypic Variability in Sibling Pairs with Neurodevelopmental Diseases |
Bozkurt-Yozgatli, Tugce |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
2023-A-3286-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 |
| Genomic analyses of 281 consanguineous kindreds from the Middle East and North Africa facilitate the discovery of novel recessive neurodevelopmental rare disease traits |
Duan, Ruizhi |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
PB4786 |
| Genomic Rare Variant Mechanisms for Congenital Cardiac Laterality Defect: A Digenic Model Approach. |
Rai, Archana |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
PB1568 |
| Investigating the molecular mechanism of a complex genomic rearrangement causing 6X amplification at 13q33.3 |
Kaur, Parneet |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5. 2023 |
|
PB3233 |
| 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 |
| 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 |
