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Cornelius Boerkoel
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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
7982017
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...
Nucleic acids research 47 (D1), D1018-D1027, 2019
6682019
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
5652002
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
4532002
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
3782002
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
3612003
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
3332002
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
3082012
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
2832011
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
2702014
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
2702001
Detecting false‐positive signals in exome sequencing
KV Fuentes Fajardo, D Adams, NISC Comparative Sequencing Program, ...
Human mutation 33 (4), 609-613, 2012
1912012
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
1852000
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
1782013
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
1701991
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
1682007
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
1632012
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
1621995
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
1482002
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy
H Yuan, KB Hansen, J Zhang, T Mark Pierson, TC Markello, KVF Fajardo, ...
Nature communications 5 (1), 1-12, 2014
1442014
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