A structural variation reference for medical and population genetics RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ... Nature 581 (7809), 444-451, 2020 | 709 | 2020 |
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ... Genetics in Medicine 18 (6), 608-617, 2016 | 100 | 2016 |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States HM Reddy, KA Cho, M Lek, E Estrella, E Valkanas, MD Jones, ... Journal of human genetics 62 (2), 243-252, 2017 | 89 | 2017 |
An open resource of structural variation for medical and population genetics RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, AV Khera, ... BioRxiv, 578674, 2019 | 83 | 2019 |
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness A Töpf, K Johnson, A Bates, L Phillips, KR Chao, EM England, ... Genetics in medicine 22 (9), 1478-1488, 2020 | 71 | 2020 |
Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes S Marchegiani, T Davis, F Tessadori, G Van Haaften, F Brancati, ... The American Journal of Human Genetics 97 (1), 99-110, 2015 | 68 | 2015 |
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 | 47 | 2022 |
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained … K Johnson, M Bertoli, L Phillips, A Töpf, P Van den Bergh, J Vissing, ... Skeletal muscle 8 (1), 23, 2018 | 44 | 2018 |
Defining disease, diagnosis, and translational medicine within a homeostatic perturbation paradigm: The national institutes of health undiagnosed diseases program experience T Gall, E Valkanas, C Bello, T Markello, C Adams, WP Bone, AJ Brandt, ... Frontiers in medicine 4, 62, 2017 | 36 | 2017 |
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration F Jamshidi, EM Place, S Mehrotra, D Navarro-Gomez, M Maher, ... Genetics in Medicine 21 (3), 694-704, 2019 | 32 | 2019 |
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration F Jamshidi, EM Place, S Mehrotra, D Navarro-Gomez, M Maher, ... Genetics in Medicine 21 (3), 694-704, 2019 | 32 | 2019 |
matchbox: An open‐source tool for patient matching via the Matchmaker Exchange H Arachchi, MH Wojcik, B Weisburd, JOB Jacobsen, E Valkanas, S Baxter, ... Human mutation 39 (12), 1827-1834, 2018 | 26 | 2018 |
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies GC Dworschak, J Punetha, JC Kalanithy, E Mingardo, HB Erdem, ... Genetics in Medicine 23 (9), 1715-1725, 2021 | 25 | 2021 |
Phenotypic evolution of UNC80 loss of function E Valkanas, K Schaffer, C Dunham, V Maduro, C du Souich, R Rupps, ... American Journal of Medical Genetics Part A 170 (12), 3106-3114, 2016 | 25 | 2016 |
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase LB Waddell, SJ Bryen, BB Cummings, A Bournazos, FJ Evesson, H Joshi, ... Neurology: Genetics 7 (1), e554, 2021 | 22 | 2021 |
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan M Saha, HM Reddy, MA Salih, E Estrella, MD Jones, S Mitsuhashi, ... Physiological genomics 50 (11), 929-939, 2018 | 20 | 2018 |
Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience EMJ Lee, K Xu, E Mosbrook, A Links, J Guzman, DR Adams, E Flynn, ... Genetics in Medicine 18 (12), 1303-1307, 2016 | 16 | 2016 |
Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders C Lowther, E Valkanas, JL Giordano, HZ Wang, BB Currall, K O’Keefe, ... bioRxiv, 2020 | 12 | 2020 |
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies C Lowther, E Valkanas, JL Giordano, HZ Wang, BB Currall, K O’Keefe, ... The American Journal of Human Genetics 110 (9), 1454-1469, 2023 | 9 | 2023 |
Author Correction: A structural variation reference for medical and population genetics RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ... Nature 590 (7846), E55-E55, 2021 | 7 | 2021 |