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 | 106 | 2017 |
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 | 10 | 2021 |
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 | 10 | 2018 |
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 | 6 | 2022 |
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 | 3 | 2018 |
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 | 3 | 2015 |
Computational strategies to investigate the genetic cause of human eye disease WA Goar The University of Iowa, 2019 | 1 | 2019 |
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, ... | | |