Articles with public access mandates - Cornelius BoerkoelLearn more
Not available anywhere: 7
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs
P Szafranski, ZH Coban‐Akdemir, R Rupps, S Grazioli, D Wensley, ...
American journal of medical genetics Part A 170 (9), 2440-2444, 2016
Mandates: US National Institutes of Health
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation
LI Elizondo, KS Cho, W Zhang, J Yan, C Huang, Y Huang, K Choi, ...
Journal of medical genetics 46 (1), 49-59, 2009
Mandates: US National Institutes of Health
FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?
A Myers, C du Souich, CL Yang, L Borovik, J Mwenifumbo, R Rupps, ...
American Journal of Medical Genetics Part A 173 (12), 3172-3181, 2017
Mandates: Genome Canada, Michael Smith Foundation for Health Research
A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation
X Duan, S Yang, H Zhang, J Wu, Y Zhang, D Ji, L Tie, CF Boerkoel
Journal of Dental Research 98 (8), 870-878, 2019
Mandates: National Natural Science Foundation of China
Glycomics in rare diseases: from diagnosis tomechanism
M Davids, MS Kane, LA Wolfe, C Toro, CJ Tifft, D Adams, X Li, MA Raihan, ...
Translational Research 206, 5-17, 2019
Mandates: US National Institutes of Health
Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia
PK Boerkoel, K Dixon, C Fitzsimons, Y Shen, S Huynh, ...
American Journal of Medical Genetics Part A 188 (5), 1589-1594, 2022
Mandates: Wellcome Trust
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?
N Gazzaz, FG Frost, E Alderman, PA Richmond, J Dalmann, S Lin, ...
American Journal of Medical Genetics Part A 188 (10), 3089-3095, 2022
Mandates: US National Institutes of Health
Available somewhere: 83
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
Mandates: US Department of Energy, US National Institutes of Health, British Heart …
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
Mandates: US Department of Energy, US National Institutes of Health, German Research …
The human phenotype ontology in 2017
S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ...
Mandates: US Department of Energy, US National Institutes of Health, German Research …
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
Detecting false‐positive signals in exome sequencing
KV Fuentes Fajardo, D Adams, NISC Comparative Sequencing Program, ...
Human mutation 33 (4), 609-613, 2012
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
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
Mandates: Canadian Institutes of Health Research, Heart and Stroke Foundation of Canada
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
Mandates: US National Institutes of Health
Glycosylation, hypogammaglobulinemia, and resistance to viral infections
MA Sadat, S Moir, TW Chun, P Lusso, G Kaplan, L Wolfe, MJ Memoli, ...
New England Journal of Medicine 370 (17), 1615-1625, 2014
Mandates: US National Institutes of Health
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
OJ Buske, M Girdea, S Dumitriu, B Gallinger, T Hartley, H Trang, ...
Human mutation 36 (10), 931-940, 2015
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
T Markello, D Chen, JY Kwan, I Horkayne-Szakaly, A Morrison, ...
Molecular genetics and metabolism 114 (3), 474-482, 2015
Mandates: US National Institutes of Health
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