Clinical exome sequencing for genetic identification of rare Mendelian disorders H Lee, JL Deignan, N Dorrani, SP Strom, S Kantarci, F Quintero-Rivera, ... Jama 312 (18), 1880-1887, 2014 | 1086 | 2014 |
Phenotypes of patients with “simple” Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics KM Dipple, ERB McCabe The American Journal of Human Genetics 66 (6), 1729-1735, 2000 | 466 | 2000 |
Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks X Yang, JL Deignan, H Qi, J Zhu, S Qian, J Zhong, G Torosyan, S Majid, ... Nature genetics 41 (4), 415-423, 2009 | 326 | 2009 |
Modifier genes convert “simple” Mendelian disorders to complex traits KM Dipple, ERB McCabe Molecular genetics and metabolism 71 (1-2), 43-50, 2000 | 305 | 2000 |
Single-gene disorders: what role could moonlighting enzymes play? G Sriram, JA Martinez, ERB McCabe, JC Liao, KM Dipple The American Journal of Human Genetics 76 (6), 911-924, 2005 | 252 | 2005 |
Laboratory guide to the methods in biochemical genetics N Blau, M Duran, KM Gibson Springer, 2008 | 215 | 2008 |
Ethical and policy issues in genetic testing and screening of children Committee on Bioethics, Committee on Genetics, and, ... Pediatrics 131 (3), 620-622, 2013 | 199* | 2013 |
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 | 182 | 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 | 160 | 2017 |
Targeted long-read sequencing identifies missing disease-causing variation DE Miller, A Sulovari, T Wang, H Loucks, K Hoekzema, KM Munson, ... The American Journal of Human Genetics 108 (8), 1436-1449, 2021 | 136 | 2021 |
Consequences of complexity within biological networks: robustness and health, or vulnerability and disease KM Dipple, JK Phelan, ERB McCabe Molecular genetics and metabolism 74 (1-2), 45-50, 2001 | 121 | 2001 |
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 | 115 | 2017 |
Parameters of care for craniosynostosis: craniofacial and neurologic surgery perspectives SM Warren, MR Proctor, SP Bartlett, JP Blount, SR Buchman, W Burnett, ... Plastic and reconstructive surgery 129 (3), 731-737, 2012 | 110 | 2012 |
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 | 97 | 2018 |
Complex compound inheritance of lethal lung developmental disorders due to disruption of the TBX-FGF pathway JA Karolak, M Vincent, G Deutsch, T Gambin, B Cogné, O Pichon, ... The American Journal of Human Genetics 104 (2), 213-228, 2019 | 90 | 2019 |
Human ARX gene: genomic characterization and expression R Ohira, YH Zhang, W Guo, K Dipple, SL Shih, J Doerr, BL Huang, LJ Fu, ... Molecular genetics and metabolism 77 (1-2), 179-188, 2002 | 83 | 2002 |
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 | 80 | 2019 |
Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency SD Cederbaum, S Koo-McCoy, I Tein, BYL Hsu, A Ganguly, E Vilain, ... Molecular genetics and metabolism 77 (3), 195-201, 2002 | 79 | 2002 |
Glycerol kinase deficiency: evidence for complexity in a single gene disorder K Dipple, YH Zhang, BL Huang, L McCabe, J Dallongeville, T Inokuchi, ... Human genetics 109, 55-62, 2001 | 78 | 2001 |
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 | 75 | 2019 |