Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 52 | 2022 |
Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease MM Uddin, NQH Nguyen, B Yu, JA Brody, A Pampana, T Nakao, ... Nature communications 13 (1), 5350, 2022 | 47 | 2022 |
Evaluation of computational genotyping of structural variation for clinical diagnoses V Chander, RA Gibbs, FJ Sedlazeck GigaScience 8 (9), giz110, 2019 | 40 | 2019 |
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome MM Khayat, H Li, V Chander, J Hu, AW Hansen, S Li, J Traynelis, H Shen, ... Human mutation 42 (5), 577-591, 2021 | 20 | 2021 |
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications DR Murdock, E Venner, DM Muzny, GA Metcalf, M Murugan, TD Hadley, ... Genetics in Medicine 23 (12), 2404-2414, 2021 | 19 | 2021 |
Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases X Montenegro‐Garreaud, AW Hansen, MM Khayat, V Chander, ... Human mutation 41 (12), 2094-2104, 2020 | 10 | 2020 |
AHDC1 missense mutations in Xia-Gibbs syndrome MM Khayat, J Hu, Y Jiang, H Li, V Chander, M Dawood, AW Hansen, S Li, ... Human Genetics and Genomics Advances 2 (4), 2021 | 9 | 2021 |
Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism V Chander, M Mahmoud, J Hu, Z Dardas, CM Grochowski, M Dawood, ... Human mutation 43 (12), 2033-2053, 2022 | 7 | 2022 |
Xia-gibbs syndrome V Chander, M Wangler, R Gibbs, D Murdock | 3 | 2021 |
HeartCare: Improving Clinical Practice Through Comprehensive Cardiovascular Genetic Testing D Murdock, T Hadley, E Venner, D Muzny, G Metcalf, M Murugan, ... Circulation 142 (Suppl_3), A15628-A15628, 2020 | 1 | 2020 |