| Guidelines for investigating causality of sequence variants in human disease DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ... Nature 508 (7497), 469-476, 2014 | 1416 | 2014 |
| Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease EA Worthey, AN Mayer, GD Syverson, D Helbling, BB Bonacci, B Decker, ... Genetics in Medicine 13 (3), 255-262, 2011 | 858 | 2011 |
| Comprehensive molecular characterization of pheochromocytoma and paraganglioma L Fishbein, I Leshchiner, V Walter, L Danilova, AG Robertson, ... Cancer cell 31 (2), 181-193, 2017 | 647 | 2017 |
| Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases MM Clark, Z Stark, L Farnaes, TY Tan, SM White, D Dimmock, ... NPJ genomic medicine 3 (1), 16, 2018 | 533 | 2018 |
| Assuring the quality of next-generation sequencing in clinical laboratory practice AS Gargis, L Kalman, MW Berry, DP Bick, DP Dimmock, T Hambuch, F Lu, ... Nature biotechnology 30 (11), 1033-1036, 2012 | 509 | 2012 |
| Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study DA Hughes, K Nicholls, SP Shankar, G Sunder-Plassmann, D Koeller, ... Journal of medical genetics 54 (4), 288-296, 2017 | 445 | 2017 |
| Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization L Farnaes, A Hildreth, NM Sweeney, MM Clark, S Chowdhury, S Nahas, ... NPJ genomic medicine 3 (1), 10, 2018 | 386 | 2018 |
| Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission S Karthikeyan, JI Levy, P De Hoff, G Humphrey, A Birmingham, K Jepsen, ... Nature 609 (7925), 101-108, 2022 | 289 | 2022 |
| Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society S Parikh, A Goldstein, A Karaa, MK Koenig, I Anselm, C Brunel-Guitton, ... Genetics in Medicine 19 (12), 1380-1397, 2017 | 288 | 2017 |
| A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants SF Kingsmore, JA Cakici, MM Clark, M Gaughran, M Feddock, S Batalov, ... The American Journal of Human Genetics 105 (4), 719-733, 2019 | 287 | 2019 |
| Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation MM Clark, A Hildreth, S Batalov, Y Ding, S Chowdhury, K Watkins, ... Science translational medicine 11 (489), eaat6177, 2019 | 251 | 2019 |
| Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease YH Messinger, NJ Mendelsohn, W Rhead, D Dimmock, E Hershkovitz, ... Genetics in medicine 14 (1), 135-142, 2012 | 229 | 2012 |
| Urea cycle dysregulation generates clinically relevant genomic and biochemical signatures JS Lee, L Adler, H Karathia, N Carmel, S Rabinovich, N Auslander, ... Cell 174 (6), 1559-1570. e22, 2018 | 224 | 2018 |
| The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants JE Petrikin, JA Cakici, MM Clark, LK Willig, NM Sweeney, EG Farrow, ... NPJ Genomic Medicine 3 (1), 6, 2018 | 190 | 2018 |
| Whole exome and whole genome sequencing D Bick, D Dimmock Current opinion in pediatrics 23 (6), 594-600, 2011 | 190 | 2011 |
| Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase DP Dimmock, Q Zhang, C Dionisi‐Vici, R Carrozzo, J Shieh, LY Tang, ... Human mutation 29 (2), 330-331, 2008 | 184 | 2008 |
| Exploring concordance and discordance for return of incidental findings from clinical sequencing RC Green, JS Berg, GT Berry, LG Biesecker, DP Dimmock, JP Evans, ... Genetics in Medicine 14 (4), 405-410, 2012 | 178 | 2012 |
| Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care D Dimmock, S Caylor, B Waldman, W Benson, C Ashburner, ... The American Journal of Human Genetics 108 (7), 1231-1238, 2021 | 170 | 2021 |
| Good laboratory practice for clinical next-generation sequencing informatics pipelines AS Gargis, L Kalman, DP Bick, C Da Silva, DP Dimmock, BH Funke, ... Nature biotechnology 33 (7), 689-693, 2015 | 166 | 2015 |
| Pegvaliase for the treatment of phenylketonuria: results of a long-term phase 3 clinical trial program (PRISM) J Thomas, H Levy, S Amato, J Vockley, R Zori, D Dimmock, CO Harding, ... Molecular genetics and metabolism 124 (1), 27-38, 2018 | 165 | 2018 |
Stephen F. KingsmoreRady Children's Institute for Genomic Medicine在 rchsd.org 的电子邮件经过验证
