| A millennial myosin census JS Berg, BC Powell, RE Cheney Molecular biology of the cell 12 (4), 780-794, 2001 | 1045 | 2001 |
| Newborn sequencing in genomic medicine and public health JS Berg, PB Agrawal, DB Bailey, AH Beggs, SE Brenner, AM Brower, ... Pediatrics 139 (2), 2017 | 228 | 2017 |
| Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine RC Green, KAB Goddard, GP Jarvik, LM Amendola, PS Appelbaum, ... The American Journal of Human Genetics 98 (6), 1051-1066, 2016 | 167 | 2016 |
| Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges NL Vora, B Powell, A Brandt, N Strande, E Hardisty, K Gilmore, ... Genetics in Medicine 19 (11), 1207-1216, 2017 | 154 | 2017 |
| The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations LM Amendola, JS Berg, CR Horowitz, F Angelo, JT Bensen, BB Biesecker, ... The American Journal of Human Genetics 103 (3), 319-327, 2018 | 134 | 2018 |
| A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing JS Berg, AKM Foreman, JM O'daniel, JK Booker, L Boshe, T Carey, ... Genetics in Medicine 18 (5), 467-475, 2016 | 85 | 2016 |
| Genomic sequencing for newborn screening: results of the NC NEXUS project TS Roman, SB Crowley, MI Roche, AKM Foreman, JM O’Daniel, ... The American Journal of Human Genetics 107 (4), 596-611, 2020 | 79 | 2020 |
| ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants RY Patel, N Shah, AR Jackson, R Ghosh, P Pawliczek, S Paithankar, ... Genome Medicine 9, 1-9, 2017 | 67 | 2017 |
| Tracking the evolution of alternatively spliced exons within the Dscam family ME Crayton, BC Powell, TJ Vision, MC Giddings BMC evolutionary biology 6 (1), 1-15, 2006 | 60 | 2006 |
| An approach to integrating exome sequencing for fetal structural anomalies into clinical practice NL Vora, K Gilmore, A Brandt, C Gustafson, N Strande, L Ramkissoon, ... Genetics in Medicine 22 (5), 954-961, 2020 | 59 | 2020 |
| Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing BC Powell, L Jiang, DM Muzny, LR Treviño, ZAE Dreyer, LC Strong, ... Pediatric blood & cancer 60 (6), E1-E3, 2013 | 59 | 2013 |
| An age-based framework for evaluating genome-scale sequencing results in newborn screening LV Milko, JM O'Daniel, DM DeCristo, SB Crowley, AKM Foreman, ... The Journal of pediatrics 209, 68-76, 2019 | 58 | 2019 |
| Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies LM Amendola, K Muenzen, LG Biesecker, KM Bowling, GM Cooper, ... The American Journal of Human Genetics 107 (5), 932-941, 2020 | 53 | 2020 |
| ClinGen Allele Registry links information about genetic variants P Pawliczek, RY Patel, LR Ashmore, AR Jackson, C Bizon, T Nelson, ... Human mutation 39 (11), 1690-1701, 2018 | 49 | 2018 |
| Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels DM Kanavy, SM McNulty, MK Jairath, SE Brnich, C Bizon, BC Powell, ... Genome Medicine 11, 1-19, 2019 | 46 | 2019 |
| Finding the rare pathogenic variants in a human genome JP Evans, BC Powell, JS Berg Jama 317 (18), 1904-1905, 2017 | 46 | 2017 |
| Evaluating parents’ decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a … LV Milko, C Rini, MA Lewis, RM Butterfield, FC Lin, RS Paquin, BC Powell, ... Trials 19 (1), 344, 2018 | 36 | 2018 |
| Transcriptional analysis of the conserved ftsZ gene cluster in Mycoplasma genitalium and Mycoplasma pneumoniae GA Benders, BC Powell, CA Hutchison Journal of bacteriology 187 (13), 4542-4551, 2005 | 36 | 2005 |
| Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers RV Sanghvi, CJ Buhay, BC Powell, EA Tsai, MO Dorschner, CS Hong, ... Genetics in Medicine 20 (8), 855-866, 2018 | 30 | 2018 |
| Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making DM DeCristo, LV Milko, JM O’Daniel, AKM Foreman, LF Mollison, ... Genome Medicine 13 (1), 1-13, 2021 | 25 | 2021 |
Kirk C WilhelmsenRockefeller Neuroscience InstituteVerified email at hsc.wvu.edu
