| MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ... The American Journal of Human Genetics 100 (6), 843-853, 2017 | 178 | 2017 |
| The undiagnosed diseases network: accelerating discovery about health and disease RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ... The American Journal of Human Genetics 100 (2), 185-192, 2017 | 159 | 2017 |
| A syndromic neurodevelopmental disorder caused by de novo variants in EBF3 HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ... The American Journal of Human Genetics 100 (1), 128-137, 2017 | 114 | 2017 |
| A feedback-insensitive isopropylmalate synthase affects acylsugar composition in cultivated and wild tomato J Ning, GD Moghe, B Leong, J Kim, I Ofner, Z Wang, C Adams, AD Jones, ... Plant physiology 169 (3), 1821-1835, 2015 | 95 | 2015 |
| De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype V Shashi, LDM Pena, K Kim, B Burton, M Hempel, K Schoch, ... The American Journal of Human Genetics 99 (4), 991-999, 2016 | 68 | 2016 |
| A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay K Schoch, L Meng, S Szelinger, DR Bearden, A Stray-Pedersen, OL Busk, ... The American Journal of Human Genetics 100 (2), 343-351, 2017 | 48 | 2017 |
| Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases LDM Pena, YH Jiang, K Schoch, RC Spillmann, N Walley, N Stong, ... Genetics in medicine 20 (4), 464-469, 2018 | 47 | 2018 |
| NTCP deficiency and persistently raised bile salts: an adult case F Van Herpe, HR Waterham, CJ Adams, M Mannens, H Bikker, FM Vaz, ... Journal of inherited metabolic disease 40, 313-315, 2017 | 38 | 2017 |
| 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 |
| Abnormal glycosylation in Joubert syndrome type 10 MS Kane, M Davids, MR Bond, CJ Adams, ME Grout, IG Phelps, ... Cilia 6, 1-18, 2017 | 18 | 2017 |
| Explorations to improve the completeness of exome sequencing C Du, BN Pusey, CJ Adams, CC Lau, WP Bone, WA Gahl, TC Markello, ... BMC medical genomics 9, 1-11, 2016 | 18 | 2016 |
| Mitotic intragenic recombination: a mechanism of survival for several congenital disorders of glycosylation MS Kane, M Davids, C Adams, LA Wolfe, HW Cheung, A Gropman, ... The American Journal of Human Genetics 98 (2), 339-346, 2016 | 17 | 2016 |
| Regularized sequence-context mutational trees capture variation in mutation rates across the human genome CJ Adams, M Conery, BJ Auerbach, ST Jensen, I Mathieson, BF Voight PLoS Genetics 19 (7), e1010807, 2023 | 3 | 2023 |
| Identifying rare variants inconsistent with identity‐by‐descent in population‐scale whole‐genome sequencing data KE Johnson, CJ Adams, BF Voight Methods in Ecology and Evolution 13 (11), 2429-2442, 2022 | 3 | 2022 |
| INCORPORATING ROUTINE METABOLIC GENE ANNOTATION INTO THE EXOME ANALYSIS PIPELINE FOR UNDIAGNOSED PATIENTS D Johnson, K Chao, C Adams, M Kane, HT Ho, L Wolfe, W Gahl, D Adams MOLECULAR GENETICS AND METABOLISM 117 (3), 262-262, 2016 | | 2016 |
