| 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 | 177 | 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 |
| Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation C Lam, C Ferreira, D Krasnewich, C Toro, L Latham, WM Zein, T Lehky, ... Genetics in Medicine 19 (2), 160-168, 2017 | 142 | 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 |
| Promiscuous activity of arginine: glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine M Davids, JDT Ndika, GS Salomons, HJ Blom, T Teerlink FEBS letters 586 (20), 3653-3657, 2012 | 105 | 2012 |
| The role of asymmetric dimethylarginine and arginine in the failing heart and its vasculature M Visser, WJ Paulus, MAR Vermeulen, MC Richir, M Davids, W Wisselink, ... European journal of heart failure 12 (12), 1274-1281, 2010 | 94 | 2010 |
| IRF2BPL is associated with neurological phenotypes PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ... The American Journal of Human Genetics 103 (2), 245-260, 2018 | 92 | 2018 |
| A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network RC Spillmann, A McConkie-Rosell, L Pena, YH Jiang, K Schoch, ... Orphanet Journal of Rare Diseases 12, 1-11, 2017 | 80 | 2017 |
| A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative V Shashi, K Schoch, R Spillmann, H Cope, QKG Tan, N Walley, L Pena, ... Genetics in Medicine 21 (1), 161-172, 2019 | 77 | 2019 |
| Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ... The American Journal of Human Genetics 102 (3), 494-504, 2018 | 72 | 2018 |
| Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ... The American Journal of Human Genetics 104 (1), 164-178, 2019 | 71 | 2019 |
| 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 heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation CR Ferreira, ZJ Xia, A Clément, DA Parry, M Davids, F Taylan, P Sharma, ... The American Journal of Human Genetics 103 (4), 553-567, 2018 | 61 | 2018 |
| Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ... The American Journal of Human Genetics 104 (6), 1127-1138, 2019 | 60 | 2019 |
| Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region MK Kelly, M Park, I Mihalek, A Rochtus, M Gramm, E Pérez‐Palma, ... Epilepsia 60 (3), 406-418, 2019 | 60 | 2019 |
| Role of the human erythrocyte in generation and storage of asymmetric dimethylarginine M Davids, AJ van Hell, M Visser, RJ Nijveldt, PAM van Leeuwen, ... American Journal of Physiology-Heart and Circulatory Physiology 302 (8 …, 2012 | 58 | 2012 |
| L-Homoarginine and L-arginine are antagonistically related to blood pressure in an elderly population: the Hoorn study LP van der Zwan, M Davids, PG Scheffer, JM Dekker, CDA Stehouwer, ... Journal of Hypertension 31 (6), 1114-1123, 2013 | 57 | 2013 |
| Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors C Lam, GA Golas, M Davids, M Huizing, MS Kane, DM Krasnewich, ... Molecular genetics and metabolism 115 (2-3), 128-140, 2015 | 51 | 2015 |
| De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia O Kanca, JC Andrews, PT Lee, C Patel, SR Braddock, AM Slavotinek, ... The American Journal of Human Genetics 105 (2), 413-424, 2019 | 49 | 2019 |
| 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 |
