| ClinGen—the clinical genome resource HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ... New England Journal of Medicine 372 (23), 2235-2242, 2015 | 1163 | 2015 |
| Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource NT Strande, ER Riggs, AH Buchanan, O Ceyhan-Birsoy, M DiStefano, ... The American Journal of Human Genetics 100 (6), 895-906, 2017 | 454 | 2017 |
| Evaluating the clinical validity of hypertrophic cardiomyopathy genes J Ingles, J Goldstein, C Thaxton, C Caleshu, EW Corty, SB Crowley, ... Circulation: Genomic and Precision Medicine 12 (2), e002460, 2019 | 330 | 2019 |
| 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 |
| Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel JL Mester, R Ghosh, T Pesaran, R Huether, R Karam, KS Hruska, ... Human mutation 39 (11), 1581-1592, 2018 | 150 | 2018 |
| ClinGen variant curation expert panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation EA Rivera‐Muñoz, LV Milko, SM Harrison, DR Azzariti, CL Kurtz, K Lee, ... Human mutation 39 (11), 1614-1622, 2018 | 149 | 2018 |
| A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation JE Hunter, SA Irving, LG Biesecker, A Buchanan, B Jensen, K Lee, ... Genetics in Medicine 18 (12), 1258-1268, 2016 | 100 | 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 | 80 | 2020 |
| Increasing the diagnostic yield of exome sequencing by copy number variant analysis DS Marchuk, K Crooks, N Strande, K Kaiser-Rogers, LV Milko, A Brandt, ... PloS one 13 (12), e0209185, 2018 | 78 | 2018 |
| 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 |
| Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders GT Haskell, MC Adams, Z Fan, K Amin, RJ Guzman Badillo, L Zhou, ... Neurology: Genetics 4 (1), e212, 2018 | 53 | 2018 |
| High diagnostic yield of whole exome sequencing in participants with retinal dystrophies in a clinical ophthalmology setting K Lee, JS Berg, L Milko, K Crooks, M Lu, C Bizon, P Owen, ... American journal of ophthalmology 160 (2), 354-363. e9, 2015 | 39 | 2015 |
| 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, 1-14, 2018 | 36 | 2018 |
| Estimation of hybridization and introgression frequency in toads (genus: Bufo) using DNA sequence variation at mitochondrial and nuclear loci LS Vogel, SG Johnson Journal of Herpetology 42 (1), 61-75, 2008 | 27 | 2008 |
| 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, 1-13, 2021 | 25 | 2021 |
| Response of Fowler's Toad (Anaxyrus fowleri) to competition and hydroperiod in the presence of the invasive Coastal Plain Toad (Incilius nebulifer) LS Vogel, JHK Pechmann Journal of Herpetology 44 (3), 382-389, 2010 | 22 | 2010 |
| Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future LV Milko, BH Funke, RE Hershberger, DR Azzariti, K Lee, ER Riggs, ... Genetics in Medicine 21 (4), 987-993, 2019 | 21 | 2019 |
| Barriers and facilitators for population genetic screening in healthy populations: A systematic review EC Shen, S Srinivasan, LE Passero, CG Allen, M Dixon, K Foss, ... Frontiers in Genetics 13, 865384, 2022 | 17 | 2022 |
| The rise of population genomic screening: characteristics of current programs and the need for evidence regarding optimal implementation KS Foss, JM O’Daniel, JS Berg, SN Powell, RJ Cadigan, KJ Kuczynski, ... Journal of personalized medicine 12 (5), 692, 2022 | 17 | 2022 |
| Dispersal via stream corridors structures populations of the endangered St. Francis’ satyr butterfly (Neonympha mitchellii francisci) LV Milko, NM Haddad, SL Lance Journal of Insect Conservation 16, 263-273, 2012 | 17 | 2012 |
