David Dimmock
David Dimmock
Rady Children's Institute for Genomic Medicine
Verified email at
Cited by
Cited by
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
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
Comprehensive molecular characterization of pheochromocytoma and paraganglioma
L Fishbein, I Leshchiner, V Walter, L Danilova, AG Robertson, ...
Cancer cell 31 (2), 181-193, 2017
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
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
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
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
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), 1380-1380, 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
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
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
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
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
Whole exome and whole genome sequencing
D Bick, D Dimmock
Current opinion in pediatrics 23 (6), 594-600, 2011
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
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
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
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
Quantitative evaluation of the mitochondrial DNA depletion syndrome
D Dimmock, LY Tang, ES Schmitt, LJC Wong
Clinical chemistry 56 (7), 1119-1127, 2010
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
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