| Genomics in clinical practice: lessons from the front lines HJ Jacob, K Abrams, DP Bick, K Brodie, DP Dimmock, M Farrell, J Geurts, ... Science translational medicine 5 (194), 194cm5-194cm5, 2013 | 118 | 2013 |
| Successful application of whole genome sequencing in a medical genetics clinic D Bick, PC Fraser, MF Gutzeit, JM Harris, TM Hambuch, DC Helbling, ... Journal of pediatric genetics 6 (02), 061-076, 2017 | 94 | 2017 |
| Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech EA Worthey, G Raca, JJ Laffin, BM Wilk, JM Harris, KJ Jakielski, ... Journal of neurodevelopmental disorders 5, 1-16, 2013 | 93 | 2013 |
| Evaluating outer segment length as a surrogate measure of peak foveal cone density MA Wilk, BM Wilk, CS Langlo, RF Cooper, J Carroll Vision Research 130, 57-66, 2017 | 66 | 2017 |
| VarSight: prioritizing clinically reported variants with binary classification algorithms JM Holt, B Wilk, CL Birch, DM Brown, M Gajapathy, AC Moss, ... BMC bioinformatics 20, 1-10, 2019 | 19 | 2019 |
| Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis MA Wilk, AT Braun, PM Farrell, A Laxova, DM Brown, JM Holt, CL Birch, ... Molecular Case Studies 6 (1), a004531, 2020 | 16 | 2020 |
| Ten simple rules for using public biological data for your research VH Oza, JH Whitlock, EJ Wilk, A Uno-Antonison, B Wilk, M Gajapathy, ... PLOS Computational Biology 19 (1), e1010749, 2023 | 8 | 2023 |
| Identification of pathogenic structural variants in rare disease patients through genome sequencing JM Holt, CL Birch, DM Brown, M Gajapathy, N Sosonkina, B Wilk, MA Wilk, ... BioRxiv, 627661, 2019 | 8 | 2019 |
| Genetic factors help explain the variable responses of young children with cystic fibrosis to vitamin D supplements HCJ Lai, J Song, Q Lu, SG Murali, M Gajapathy, BM Wilk, DM Brown, ... Clinical Nutrition ESPEN 51, 367-376, 2022 | 7 | 2022 |
| Clinical diagnostic whole genome sequencing in a paediatric population: experience from our WGS genetics clinic E Worthey, D Bick, D Dimmock, M Shimoyama, R Veith, G Kowalski, ... BMC Proceedings 6, 1-2, 2012 | 4 | 2012 |
| Molecular Characterization of Juxtaglomerular Cell Tumors: Evidence of Alterations in MAPK–RAS Pathway J Lobo, S Canete-Portillo, MDCR Pena, JK McKenney, M Aron, ... Modern Pathology 37 (6), 100492, 2024 | 3 | 2024 |
| QuaC: A Pipeline Implementing Quality Control Best Practices for Genome Sequencing and Exome Sequencing Data M Gajapathy, BM Wilk, EA Worthey bioRxiv, 2023.03. 06.531383, 2023 | 2 | 2023 |
| Modeling the relationship between foveal cone density and outer segment length MA Wilk, RF Cooper, BM Wilk, CS Langlo, J Carroll Investigative Ophthalmology & Visual Science 57 (12), 2016 | 2 | 2016 |
| DITTO: An Explainable Machine-Learning Model for Transcript-Specific Variant Pathogenicity Prediction TKK Mamidi, BM Wilk, M Gajapathy, EA Worthey Preprints, 2024 | 1 | 2024 |
| Methods and apparatus for enhanced data storage based on analysis of data type and domain AM WEBORG, BM Wilk, EA Worthey US Patent App. 14/739,816, 2016 | 1 | 2016 |
| Multi-omic analysis identifies a multi-step pathology in a case of multiple chorangioma syndrome in monochorionic twins. BM Wilk, M Gajapathy, DM Brown, VE Duncan, E Worthey medRxiv, 2024.12. 03.24318397, 2024 | | 2024 |
| 344 Unraveling the complexity of cystic fibrosis: genetic modifiers and their roles in cystic fibrosis pathogenesis G Kaur, D Brown, B Wilk, M Gajapathy, T Mamidi, S Hutchins, S Murali, ... Journal of Cystic Fibrosis 22, S173, 2023 | | 2023 |
| P464: ROH pipeline enables analysis of regions of homozygosity using next generation sequencing data M Gajapathy, B Wilk, D Brown, C Vrana-Diaz, J Bohonowych, T Strong, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
| P492: Identification of molecular modifiers of disease in a group of systematically phenotyped patients with cystic fibrosis G Kaur, D Brown, B Wilk, M Gajapathy, TK Mamidi, S Hutchins, C Birch, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
| Molecular Characterization of Juxtaglomerular Cell Tumors S Canete-Portillo, J McKenney, M Aron, B Wilk, F Massicano, ... LABORATORY INVESTIGATION 102 (SUPPL 1), 575-576, 2022 | | 2022 |
