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Evan H. Baugh
Evan H. Baugh
Senior Scientist at Janssen Pharmaceuticals
在 its.jnj.com 的电子邮件经过验证
标题
引用次数
引用次数
年份
Why are there hotspot mutations in the TP53 gene in human cancers?
EH Baugh, H Ke, AJ Levine, RA Bonneau, CS Chan
Cell Death & Differentiation 25 (1), 154-160, 2018
5472018
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy
MR Winawer, NG Griffin, J Samanamud, EH Baugh, D Rathakrishnan, ...
Annals of neurology 83 (6), 1133-1146, 2018
1212018
Real-time PyMOL visualization for Rosetta and PyRosetta
EH Baugh, S Lyskov, BD Weitzner, JJ Gray
PLoS One 6 (8), e21931, 2011
832011
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
V Del Dotto, F Ullah, I Di Meo, P Magini, M Gusic, A Maresca, L Caporali, ...
The Journal of clinical investigation, 2019
802019
Robust classification of protein variation using structural modelling and large-scale data integration
EH Baugh, R Simmons-Edler, CL Müller, RF Alford, N Volfovsky, AE Lash, ...
Nucleic acids research 44 (6), 2501-2513, 2016
712016
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis
N Dinckan, R Du, LE Petty, Z Coban-Akdemir, SN Jhangiani, I Paine, ...
Journal of dental research 97 (1), 49-59, 2018
552018
NBEA: Developmental disease gene with early generalized epilepsy phenotypes
MS Mulhern, C Stumpel, N Stong, HG Brunner, L Bier, N Lippa, J Riviello, ...
Annals of neurology 84 (5), 788-795, 2018
442018
Role of WNT10A in failure of tooth development in humans and zebrafish
Q Yuan, M Zhao, B Tandon, L Maili, X Liu, A Zhang, EH Baugh, T Tran, ...
Molecular genetics & genomic medicine 5 (6), 730-741, 2017
322017
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease
K Eade, ML Gantner, JA Hostyk, T Nagasaki, S Giles, R Fallon, ...
Nature Metabolism 3 (3), 366-377, 2021
312021
Influence of surface charge, binding site residues and glycosylation on Thielavia terrestris cutinase biochemical characteristics
AN Shirke, D Basore, S Holton, A Su, E Baugh, GL Butterfoss, ...
Applied microbiology and biotechnology 100 (10), 4435-4446, 2016
312016
Pre-detection history of extensively drug-resistant tuberculosis in KwaZulu-Natal, South Africa
TS Brown, L Challagundla, EH Baugh, SV Omar, A Mustaev, SC Auld, ...
Proceedings of the National Academy of Sciences 116 (46), 23284-23291, 2019
272019
Functional Effects of WNT10A Rare Variants Associated with Tooth Agenesis
Y Zeng, E Baugh, S Akyalcin, A Letra
Journal of Dental Research, 0022034520962728, 2020
252020
Genetic testing in individuals with cerebral palsy
HJ May, JA Fasheun, JM Bain, EH Baugh, LE Bier, A Revah‐Politi, ...
Developmental Medicine & Child Neurology, 2021
242021
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders
A Alkelai, L Greenbaum, AR Docherty, AA Shabalin, G Povysil, A Malakar, ...
Molecular psychiatry, 1-13, 2021
192021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
ME Ernst, EH Baugh, A Thomas, L Bier, N Lippa, N Stong, MS Mulhern, ...
Epilepsia, 2021
172021
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis
A Cohen, J Hostyk, EH Baugh, CM Buchovecky, VS Aggarwal, RR Recker, ...
Bone, 116253, 2021
162021
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
S Küry, F Ebstein, A Mollé, T Besnard, MK Lee, V Vignard, T Hery, ...
The American Journal of Human Genetics, 2022
122022
A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome
JA Sullivan, N Stong, EH Baugh, MT McDonald, A Takeuchi, V Shashi
American Journal of Medical Genetics Part A, 2020
112020
New insights into tardive dyskinesia genetics: Implementation of whole-exome sequencing approach
A Alkelai, L Greenbaum, EL Heinzen, EH Baugh, A Teitelbaum, X Zhu, ...
Progress in Neuro-Psychopharmacology and Biological Psychiatry, 109659, 2019
102019
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
T Brunet, K McWalter, K Mayerhanser, GM Anbouba, A Armstrong-Javors, ...
Genetics in Medicine 23 (2), 384-395, 2021
72021
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