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Wesley Goar, Ph.D.
Wesley Goar, Ph.D.
Senior Bioinformatics Scientist, Nationwide Children's Hospital
nationwidechildrens.org의 이메일 확인됨
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Keeping an eye on Bardet-Biedl syndrome: a comprehensive review of the role of Bardet-Biedl syndrome genes in the eye
K Weihbrecht, WA Goar, T Pak, JE Garrison, AP DeLuca, EM Stone, ...
Medical research archives 5 (9), 2017
1062017
Exome-based investigation of the genetic basis of human pigmentary glaucoma
C van der Heide, W Goar, KJ Meyer, WLM Alward, EA Boese, NC Sears, ...
BMC genomics 22 (1), 477, 2021
102021
Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model
K Weihbrecht, WA Goar, CS Carter, VC Sheffield, S Seo
Plos one 13 (2), e0192755, 2018
102018
Development and application of a computable genotype model in the GA4GH Variation Representation Specification
W Goar, L Babb, S Chamala, M Cline, RR Freimuth, RK Hart, K Kuzma, ...
PACIFIC SYMPOSIUM ON BIOCOMPUTING 2023: Kohala Coast, Hawaii, USA, 3–7 …, 2022
62022
A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree
MJ Schnieders, WA Goar, M Griess, BR Roos, TE Scheetz, EM Stone, ...
Eye, 2018
32018
Targeted mutation of nuclear bone morphogenetic protein 2 impairs secondary immune response in a mouse model
DS Olsen, WA Goar, BA Nichols, KT Bailey, SL Christensen, KR Merriam, ...
BioMed research international 2015 (1), 975789, 2015
32015
Computational strategies to investigate the genetic cause of human eye disease
WA Goar
The University of Iowa, 2019
12019
65. Creating a common language for categorical variants
D Puthawala, W Goar, B Reardon, S Bajjali, K Kuzma, J Stevenson, ...
Cancer Genetics 286, S21, 2024
2024
34. Identifying challenges in variant normalization
A Bratulin, WA Goar, K Kuzma, L Babb, K Ferriter, T O'Neill, AA Antoniou, ...
Cancer Genetics 286, S11, 2024
2024
72. What's under VarCat's hat: Modeling variant oncogenicity classifications with GA4GH Standards
K Stahl, W Goar, K Kuzma, A Wagner
Cancer Genetics 286, S23, 2024
2024
26. Classifying the oncogenicity of 100 variants from pediatric cancer patients using a standardized assessment framework
W Goar, K Kuzma, K Stahl, K Schieffer, C Cottrell, E Mardis, A Wagner
Cancer Genetics 286, S9, 2024
2024
36. Gene Normalizer: A tool to resolve genetic ambiguity through data harmonization
A Smith, J Stevenson, K Kuzma, W Goar, M Cannon, A Wagner
Cancer Genetics 278, 11, 2023
2023
58. Implementing the ClinGen/CGC/VICC oncogenicity guidelines in a pediatric variant classification workflow
W Goar, K Kuzma, K Stahl, K Voytovich, M Mathew, E Macke, M Babcock, ...
Cancer Genetics 278, 18, 2023
2023
P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows
W Goar, K Kuzma, K Stahl, K Voytovich, M Mathew, E Macke, M Babcock, ...
Genetics in Medicine Open 1 (1), 2023
2023
EXOME-BASED INVESTIGATION OF THE GENETIC BASIS OF PIGMENT DISPERSION SYNDROME
W Goar, C van der Heide, B Roos, WLM Alward, YH Kwon, M Anderson, ...
Investigative Ophthalmology & Visual Science 60 (9), 2836-2836, 2019
2019
Exome sequencing analysis in three Bedouin families with Keratoconus
W Goar, P Majdalani, CC Searby, SS Whitmore, AP DeLuca, A Imtirat, ...
Investigative Ophthalmology & Visual Science 58 (8), 3556-3556, 2017
2017
Examination of sequencing data in three Israeli families with Keratoconus
WA Goar, CC Searby, SS Whitmore, AP DeLuca, A Imtirat, EM Stone, ...
Investigative Ophthalmology & Visual Science 57 (12), 4823-4823, 2016
2016
Nuclear localized BMP2 promotes cell cycle progression
BA Nichols, WA Goar, BT McCune, LC Bridgewater
The FASEB Journal 27, 1029.1-1029.1, 2013
2013
Advancing the AI/ML-Readiness of gnomAD Data with GA4GH Genomic Knowledge Standards
A Wagner, W Goar, K Ferriter, D Marten, K Laricchia, K Chao, L Babb
Research Article Targeted Mutation of Nuclear Bone Morphogenetic Protein 2 Impairs Secondary Immune Response in a Mouse Model
DS Olsen, WA Goar, BA Nichols, KT Bailey, SL Christensen, KR Merriam, ...
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