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| 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 | 869 | 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 | 717 | 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 | 597 | 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 | 517 | 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 | 481 | 2017 |
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| 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 | 363 | 2022 |
| 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 | 315 | 2019 |
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| 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 | 238 | 2012 |
| 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 | 213 | 2018 |
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| 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 | 195 | 2021 |
| 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 | 193 | 2008 |
| 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 | 181 | 2018 |
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Stephen F. KingsmoreRady Children's Institute for Genomic MedicineVerified email at rchsd.org
