| Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders SE Soden, CJ Saunders, LK Willig, EG Farrow, LD Smith, JE Petrikin, ... Science translational medicine 6 (265), 265ra168-265ra168, 2014 | 528 | 2014 |
| Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings LK Willig, JE Petrikin, LD Smith, CJ Saunders, I Thiffault, NA Miller, ... The Lancet Respiratory Medicine 3 (5), 377-387, 2015 | 382 | 2015 |
| A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases NA Miller, EG Farrow, M Gibson, LK Willig, G Twist, B Yoo, T Marrs, ... Genome medicine 7, 1-16, 2015 | 345 | 2015 |
| Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences GP Twist, A Gaedigk, NA Miller, EG Farrow, LK Willig, DL Dinwiddie, ... NPJ genomic medicine 1 (1), 1-10, 2016 | 117 | 2016 |
| The evolution of PharmVar A Gaedigk, K Sangkuhl, M Whirl‐Carrillo, GP Twist, TE Klein, NA Miller, ... Clinical pharmacology and therapeutics 105 (1), 29, 2019 | 107 | 2019 |
| CYP2D6, SULT1A1 and UGT2B17 Copy Number Variation: Quantitative Detection by Multiplex PCR A Gaedigk, GP Twist, JS Leeder Pharmacogenomics 13 (1), 91-111, 2012 | 80 | 2012 |
| Developmental expression of CYP2B6: a comprehensive analysis of mRNA expression, protein content and bupropion hydroxylase activity and the impact of genetic variation RE Pearce, R Gaedigk, GP Twist, H Dai, AK Riffel, JS Leeder, A Gaedigk Drug Metabolism and Disposition 44 (7), 948-958, 2016 | 44 | 2016 |
| A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes I Thiffault, C Saunders, J Jenkins, N Raje, K Canty, M Sharma, L Grote, ... BMC medical genetics 16, 1-8, 2015 | 34 | 2015 |
| High-Resolution Melt Analysis to Detect Sequence Variations in Highly Homologous Gene Regions: Application to CYP2B6 GP Twist, R Gaedigk, JS Leeder, A Gaedigk Pharmacogenomics 14 (8), 913-922, 2013 | 16 | 2013 |
| Erratum: constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences GP Twist, A Gaedigk, NA Miller, EG Farrow, LK Willig, DL Dinwiddie, ... NPJ genomic medicine 2, 16039, 2017 | 15 | 2017 |
| In vivo characterization of CYP2D6*12, *29 and *84 using dextromethorphan as a probe drug: a case report A Gaedigk, GP Twist, EG Farrow, JA Lowry, SE Soden, NA Miller Pharmacogenomics 18 (5), 427-431, 2017 | 7 | 2017 |
| Constellation: A tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences GP Twist, A Gaedigk, NA Miller, EG Farrow, LK Willig, DL Dinwiddie, ... NPJ Genomic Medicine 2, 16039, 2017 | 3 | 2017 |
| THE PHARMACOGENE VARIATION CONSORTIUM: INCORPORATION OF THE HUMAN CYTOCHROME P450 ALLELE NOMENCLATURE DATABASE. A Gaedigk, TE Klein, GP Twist, M Whirl-Carrillo, NA Miller CLINICAL PHARMACOLOGY & THERAPEUTICS 103, S67-S67, 2018 | 2 | 2018 |
| A system for determining diplotypes G Twist, N Miller, D Dinakarpandian US Patent App. 16/067,908, 2020 | | 2020 |
| FUNCTIONAL CHARACTERIZATION OF RARE CYP2D6 ALLELIC VARIANTS IN VIVO. A Gaedigk, GP Twist, NA Miller, EG Farrow, JA Lowry, SE Soden CLINICAL PHARMACOLOGY & THERAPEUTICS 101 (S 1), S29-S29, 2017 | | 2017 |
| The CMH Warehouse: A Catalog of Genetic Variation in Patients of a Children's Hospital N Miller, B Yoo, G Twist, S Corder Proceedings of the 7th ACM International Conference on Bioinformatics …, 2016 | | 2016 |
| CYP2D6 GENE LOCUS CHARACTERIZATION BY NEXT GENERATION SEQUENCE (NGS) ANALYSIS A Gaedigk, GP Twist, NA Miller, D Dinwiddie, LK Willig, EG Farrow, ... DRUG METABOLISM REVIEWS 45, 206-207, 2014 | | 2014 |
| Impact of development and genetic variation on human hepatic CYP2B6 expression and activity. A Gaedigk, GP Twist, R Gaedigk, H Dai, AK Riffel, JS Leeder, RE Pearce The FASEB Journal 27, 270.1-270.1, 2013 | | 2013 |
| Detection of CYP2D6, SULT1A1 and UGT2B17 Copy Number Variation (CNV) Using Multiplex PCR Amplification A Gaedigk, GP Twist, L Ndjountché, JS Leeder The FASEB Journal 25, 812.13-812.13, 2011 | | 2011 |
| Alfirevic A Ali T André F Angelini S B Avery, N Bansback, M Becker, PA Beltman, JY Blay, D Brazeau, ... | | |
Stephen F. KingsmoreRady Children's Institute for Genomic Medicine在 rchsd.org 的电子邮件经过验证
