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| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 626 | 2017 |
| Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy H Takashima, CF Boerkoel, J John, GM Saifi, MAM Salih, D Armstrong, ... Nature genetics 32 (2), 267-272, 2002 | 577 | 2002 |
| Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome GB Collin, JD Marshall, A Ikeda, WV So, I Russell-Eggitt, P Maffei, S Beck, ... Nature genetics 31 (1), 74-78, 2002 | 458 | 2002 |
| Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia CF Boerkoel, H Takashima, J John, J Yan, P Stankiewicz, L Rosenbarker, ... Nature genetics 30 (2), 215-220, 2002 | 380 | 2002 |
| Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease A Jordanova, P De Jonghe, CF Boerkoel, H Takashima, E De Vriendt, ... Brain 126 (3), 590-597, 2003 | 363 | 2003 |
| The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ... | 350 | 2017 |
| Charcot‐Marie‐Tooth disease and related neuropathies: mutation distribution and genotype‐phenotype correlation CF Boerkoel, H Takashima, CA Garcia, RK Olney, J Johnson, K Berry, ... Annals of Neurology: Official Journal of the American Neurological …, 2002 | 334 | 2002 |
| The national institutes of health undiagnosed diseases program: insights into rare diseases WA Gahl, TC Markello, C Toro, KF Fajardo, M Sincan, F Gill, ... Genetics in Medicine 14 (1), 51-59, 2012 | 314 | 2012 |
| NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules M Gunay-Aygun, TC Falik-Zaccai, T Vilboux, Y Zivony-Elboum, F Gumruk, ... Nature genetics 43 (8), 732-734, 2011 | 284 | 2011 |
| GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine TM Pierson, H Yuan, ED Marsh, K Fuentes‐Fajardo, DR Adams, ... Annals of clinical and translational neurology 1 (3), 190-198, 2014 | 280 | 2014 |
| Periaxin mutations cause recessive Dejerine-Sottas neuropathy CF Boerkoel, H Takashima, P Stankiewicz, CA Garcia, SM Leber, ... The American Journal of Human Genetics 68 (2), 325-333, 2001 | 271 | 2001 |
| Detecting false‐positive signals in exome sequencing KV Fuentes Fajardo, D Adams, NISC Comparative Sequencing Program, ... Human mutation 33 (4), 609-613, 2012 | 196 | 2012 |
| Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature CF Boerkoel, S O'neill, JL Andre, PJ Benke, R Bogdanovíć, M Bulla, ... European journal of pediatrics 159, 1-7, 2000 | 188 | 2000 |
| 1, 25-(OH) 2D-24 hydroxylase (CYP24A1) deficiency as a cause of nephrolithiasis G Nesterova, MC Malicdan, K Yasuda, T Sakaki, T Vilboux, C Ciccone, ... Clinical Journal of the American Society of Nephrology 8 (4), 649-657, 2013 | 182 | 2013 |
| Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? R Hirano, H Interthal, C Huang, T Nakamura, K Deguchi, K Choi, ... The EMBO journal 26 (22), 4732-4743, 2007 | 170 | 2007 |
| Retroviral mutagenesis of cellular oncogenes: a review with insights into the mechanisms of insertional activation HJ Kung, C Boerkoel, TH Carter Retroviral insertion and oncogene activation, 1-25, 1991 | 170 | 1991 |
| Rare copy number variants contribute to congenital left-sided heart disease MP Hitz, LP Lemieux-Perreault, C Marshall, Y Feroz-Zada, R Davies, ... Public Library of Science 8 (9), e1002903, 2012 | 163 | 2012 |
| Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. CF Boerkoel, R Exelbert, C Nicastri, RC Nichols, FW Miller, PH Plotz, ... American journal of human genetics 56 (4), 887, 1995 | 162 | 1995 |
| Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg–Hirschsprung disease: Phenotypes linked by SOX10 mutation K Inoue, K Shilo, CF Boerkoel, C Crowe, J Sawady, JR Lupski, ... Annals of Neurology: Official Journal of the American Neurological …, 2002 | 151 | 2002 |
Murat Sincan, MDAssistant Professor, Sanford Sch of Med, USD - Director of Health Informatics在 usd.edu 的电子邮件经过验证
