David Dimmock
David Dimmock
Rady Children's Institute for Genomic Medicine
rchsd.org üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
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
10932014
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
7392011
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
4372012
Comprehensive molecular characterization of pheochromocytoma and paraganglioma
L Fishbein, I Leshchiner, V Walter, L Danilova, AG Robertson, ...
Cancer cell 31 (2), 181-193, 2017
3062017
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
2372017
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
1882012
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), 1-10, 2018
1822018
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
1722012
Whole exome and whole genome sequencing
D Bick, D Dimmock
Current opinion in pediatrics 23 (6), 594-600, 2011
1612011
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
1472008
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), 1-8, 2018
1432018
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
1272015
Quantitative evaluation of the mitochondrial DNA depletion syndrome
D Dimmock, LY Tang, ES Schmitt, LJC Wong
Clinical chemistry 56 (7), 1119-1127, 2010
1232010
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
1142017
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes
RA Marsh, K Rao, P Satwani, K Lehmberg, I Müller, D Li, MO Kim, ...
Blood 121 (6), 877-883, 2013
1072013
Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet
D Dimmock, K Kobayashi, M Iijima, A Tabata, LJ Wong, T Saheki, B Lee, ...
Pediatrics 119 (3), e773-e777, 2007
1072007
Genomics in clinical practice: lessons from the front lines
HJ Jacob, K Abrams, DP Bick, K Brodie, DP Dimmock, M Farrell, J Geurts, ...
Science translational medicine 5 (194), 194cm5-194cm5, 2013
982013
Citrin deficiency, a perplexing global disorder
D Dimmock, B Maranda, C Dionisi-Vici, J Wang, S Kleppe, G Fiermonte, ...
Molecular genetics and metabolism 96 (1), 44-49, 2009
942009
A timely arrival for genomic medicine
AN Mayer, DP Dimmock, MJ Arca, DP Bick, JW Verbsky, EA Worthey, ...
Genetics in Medicine 13 (3), 195-196, 2011
892011
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), 1-11, 2018
862018
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Makaleler 1–20