Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel MS Watson, GR Cutting, RJ Desnick, DA Driscoll, K Klinger, M Mennuti, ... Genetics in medicine 6 (5), 387-391, 2004 | 544 | 2004 |
Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention LH Cavallari, CR Lee, AL Beitelshees, RM Cooper-DeHoff, JD Duarte, ... JACC: Cardiovascular Interventions 11 (2), 181-191, 2018 | 286 | 2018 |
A standardized framework for the validation and verification of clinical molecular genetic tests CJ Mattocks, MA Morris, G Matthijs, E Swinnen, A Corveleyn, E Dequeker, ... European Journal of Human Genetics 18 (12), 1276-1288, 2010 | 252 | 2010 |
Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting LV Kalman, JAG Agúndez, ML Appell, JL Black, GC Bell, S Boukouvala, ... Clinical Pharmacology & Therapeutics 99 (2), 172-185, 2016 | 208 | 2016 |
Recommendations for clinical CYP2C19 genotyping allele selection: a report of the Association for Molecular Pathology VM Pratt, AL Del Tredici, H Hachad, Y Ji, LV Kalman, SA Scott, KE Weck The Journal of Molecular Diagnostics 20 (3), 269-276, 2018 | 198 | 2018 |
Medical genetics summaries L Dean, V Pratt, H McLeod, W Rubinstein Bethesda (MD): National Center for Biotechnology Information (US), 2012 | 194 | 2012 |
Genetics of Pelizaeus-Merzbacher disease ME Hodes, VM Pratt, SR Dlouhy Developmental neuroscience 15 (6), 383-394, 1993 | 170 | 1993 |
Proteolipid protein is necessary in peripheral as well as central myelin JY Garbern, F Cambi, XM Tang, AAF Sima, JM Vallat, EP Bosch, R Lewis, ... Neuron 19 (1), 205-218, 1997 | 169 | 1997 |
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology I Schrijver, N Aziz, DH Farkas, M Furtado, AF Gonzalez, TC Greiner, ... The Journal of Molecular Diagnostics 14 (6), 525-540, 2012 | 155 | 2012 |
Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: a GeT-RM collaborative project VM Pratt, RE Everts, P Aggarwal, BN Beyer, U Broeckel, R Epstein-Baak, ... The Journal of molecular diagnostics 18 (1), 109-123, 2016 | 138 | 2016 |
Multisite Investigation of Strategies for the Implementation of CYP2C19 Genotype‐Guided Antiplatelet Therapy PE Empey, JM Stevenson, S Tuteja, KW Weitzel, DJ Angiolillo, ... Clinical Pharmacology & Therapeutics 104 (4), 664-674, 2018 | 129 | 2018 |
Recommendations for clinical CYP2C9 genotyping allele selection: a joint recommendation of the Association for Molecular Pathology and College of American Pathologists VM Pratt, LH Cavallari, AL Del Tredici, H Hachad, Y Ji, AM Moyer, ... The Journal of Molecular Diagnostics 21 (5), 746-755, 2019 | 125 | 2019 |
Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network NR Sperber, JS Carpenter, LH Cavallari, L J Damschroder, ... BMC medical genomics 10, 1-11, 2017 | 125 | 2017 |
PharmVar GeneFocus: CYP2C19 MR Botton, M Whirl‐Carrillo, AL Del Tredici, K Sangkuhl, LH Cavallari, ... Clinical Pharmacology & Therapeutics 109 (2), 352-366, 2021 | 124 | 2021 |
Recommendations for clinical CYP2D6 genotyping allele selection: a joint consensus recommendation of the Association for Molecular Pathology, College of American Pathologists … VM Pratt, LH Cavallari, AL Del Tredici, A Gaedigk, H Hachad, Y Ji, ... The Journal of Molecular Diagnostics 23 (9), 1047-1064, 2021 | 121 | 2021 |
Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project VM Pratt, B Zehnbauer, JA Wilson, R Baak, N Babic, M Bettinotti, A Buller, ... The Journal of molecular diagnostics 12 (6), 835-846, 2010 | 113 | 2010 |
The IGNITE Pharmacogenetics Working Group: an opportunity for building evidence with pharmacogenetic implementation in a real‐world setting LH Cavallari, AL Beitelshees, KV Blake, LG Dressler, JD Duarte, A Elsey, ... Clinical and translational science 10 (3), 143, 2017 | 96 | 2017 |
Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes I Numanagić, S Malikić, M Ford, X Qin, L Toji, M Radovich, TC Skaar, ... Nature communications 9 (1), 828, 2018 | 85 | 2018 |
Identification of Novel CYP2D7-2D6 Hybrids: Non-Functional and Functional Variants A Gaedigk, LKM Jaime, JS Bertino Jr, A Bérard, VM Pratt, ... Frontiers in pharmacology 1, 121, 2010 | 81 | 2010 |
Characterization of reference materials for genetic testing of CYP2D6 alleles: a GeT-RM collaborative project A Gaedigk, A Turner, RE Everts, SA Scott, P Aggarwal, U Broeckel, ... The Journal of Molecular Diagnostics 21 (6), 1034-1052, 2019 | 70 | 2019 |