DavidP.DimmockMD

PubMed

• 152 citations
  Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
  Michelle M. Clark, Amber Hildreth, Sergey Batalov, Yan Ding, Shimul Chowdhury
  Science Translational Medicine. 2019-04-24
• 36 citations
  Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
  Mallory J Owen, Anna-Kaisa Niemi, David Dimmock, Mark Speziale, Mark Nespeca
  The New England Journal of Medicine. 2021-06-02
• 915 citations
  Guidelines for investigating causality of sequence variants in human disease
  Daniel G. MacArthur, Teri A. Manolio, David Dimmock, Heidi L. Rehm, Jay Shendure
  Nature. 2014-04-24

Journal Articles

• Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy  
  Longo N, Siriwardena K, Feigenbaum A, Dimmock D, Burton BK, Stockler S, Waisbren S, Lang W, Jurecki E, Zhang C, Prasad S, Genet Med, 1/1/2015
• Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genom...  
  Falk M.J., Shen, L., Gonzalez, M., Leipzig, J., Lott, M.T., Stassen, A.P., Diroma, M.A., Navarro-Gomez, D., Yeske, P., Bai, R., Boles, R.G., Brilhante, V., Ralph, D., ..., Mol Genet Metab, 1/1/2015
• A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and nemihyperplasia  
  Geddes, G.C., Dimmock, D.P., Hehir, D.A., Helbling, D.C., Kirkpatrick, E., Loomba, R., Southern, J., Waknitz, M., Scharer, G., Konduri, G.G., J Perinatol, 1/1/2015
• Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure  
  Helbling D, Buchaklian A, Wang J, Wong LJ, Dimmock D, J Pediatr Gastroenterol Nutr, 1/1/2013
• Mitochondrial Medicine Society Clinical Directors Working Group, Clinical Director's Work Group Practice patterns of mitochondrial disease physicians in North America ...  
  Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrion, 1/1/2013
• Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias  
  Lichter-Konecki, U., Nadkarni, V., Moudgil, A., Cook, N., Poeschl, J., Meyer, M.T., Dimmock, D., Baumgart, S., Mol Genet Metab, 1/1/2013
• Exploring concordance and discordance for return of incidental findings from clinical sequencing  
  Green, R.C., Berg, J.S., Berry, G.T., Biesecker, L.G, Dimmock, D.P., Evans, J.P., Grody, W.W., Hegde, M.R., Kalia, S., Korf, B.R., Krantz, I., McGuire, A.L., Miller, D..., Genet Med, 1/1/2012
• Cystic fibrosis mutations for pF508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency  
  Sebro R, Levy H, Schneck K, Dimmock D, Raby BA, Cannon CL, Broeckel U, Risch NJ, Clin Genet, 1/1/2012
• PCR-based target sequence enrichment and next generation sequencing of 24 nuclear genes for the diagnosis of mitochondrial disorders: Yield of 262 cases  
  Bai, R., Higgs, J., Suchy, S., Saifi, M., Knight, M., Gibellini, F., Buchholz, S., Benhameda S., Arjonaa,D., Boggs, B., Chinaulta C., Shevchenkoa,Y., Smaoui, N., Richa..., Mitochondrion, 1/1/2012
• A Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome  
  Dimmock, D.P., Tang, L.Y., Schmitt, E.S., Wong, L.J., Clin Chem, 1/1/2010
• Hypertrophic cardiomyopathy: A new mutation illustrates the need for family-centered care  
  Lee, D.D., Veith, R.L., Dimmock, D.P., Samyn, M.M., Peditr Cardiol, 1/3./2014
• Antioxidant response genes sequence variants and BPD susceptiblity in VLBW infants  
  Sampath, V., Garland, J.S., Helbling, D., Dimmock, D., Mulrooney, N.P., Si,pson, P.M., Murray, J.C., Dagle, J.M., Pediatr Res, 1/17/2014
• Good laboratory practice for clinical next-generation sequencing informatics pipelines  
  Gargis, A.S., Kalman, L., Bick, D.P., da Silva, C., Dimmock, D.P., Funke, B.H., Gowrisankar, S., Hegde, M.R., Kulkarni, S., Mason, C.E., Nagarajan, R., Voelkerding, K...., Nature Biotechno, 1/8./2015
• Necrotizing Enterocolitis is Not Associated with Sequence Variants in Anti-Oxidant Response Genes in Premature Infants  
  Sampath, V., Helbling, D., Menden, H., Dimmock, D., Mulrooney, N.P., Murray, J.C., Dagle, J.M., Garland, J.S., J Pediatr Gastroenterol Nutr, 1/29/2015
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Books/Book Chapters

• Nelson Essentials in Pediatrics 
  Chapter: Metabolic Disorders 
  Page 146.0 - 163.0Dimmock, DEdition 7th,2015
• Clinics in Perinatology; Current Controversies in Perinatology 
  Chapter: Ethical Issues in DNA Sequencing 
  Page 993.0 - 1000.Dimmock, D.P., Bick, D.P.2014
• Mitochondrial Disorders Caused by Nuclear Genes 
  Chapter: Deoxyguanosine Kinase Deficiency 
  Dimmock, DEditors: Wong, L.J..SpringerEdition 2012,2012

Abstracts/Posters

• Experience with the analysis and management of data from whole genome sequencing in clinical practice
  Worthey, E., Taylor, B., Jacob, H., Schauer, D., North, P., Sander, T., McQuestion, D., Bick, D., Dimmock, D., American College of Medical Genetics Annual Meeting, Vancouver, BC, 1/1/2011
• Interim report of study PKU-015: a phase 3b study of sapropterin dihydrochloride (kuvan) in young children with PKU
  Longo, M., Feigenbaum, A., Dimmock, D.P., Stockler, S., Workman, K., Waisbren, S., American College of Medical Genetics Annual Meeting, Vancouver, BC, 1/1/2011
• Assessing HepG2 Cells as a Model for DGUOK Deficiency
  Martinie, R., Helbling, D., Buchaklian, A., Dimmock, D., American College of Medical Genetics Annual meeting, Albuquerque, NM, 1/1/2010
• The Generation of Myocytes from Fibroblasts for the Study and Diagnosis of Mitochondrial Diseases
  Buchaklian, A., Helbling,D., Dimmock, D.P., American College of Medical Genetics Annaul Meeting, Albuquerque, NM, 1/1/2010
• Clinical features and molecular genetics of deoxyguanosine kinase deficiency
  David Dimmock, Fernando Scaglia, Lee-Jun Wong, American College of Medical Genetics Annual Meeting, Nashville, TN, 1/21/2007
• Citrin Deficiency: Apparent founder mutations in the French Canadian population
  David Dimmock, Bruno Maranda, Fernando Scaglia, Lee-Jun Wong, Society of Inherited Metabolic Disorders Annual Meeting, Nashville, TN, 1/25/2007
• Clinical Utility of Whole Exome Sequencing in the Diagnosis of a Child
  Elizabeth Worthey, Alan Mayer, James Verbsky, David Bick, John Routes, Michael Tschannen, Daniel Helbling, Dennis Schauer, Regan Veith, Howard Jacob, David Dimmock, American College of Medical Genetics Annual Meeting, Albuquerque, NM, 1/24/2010
• Clinical whole genome sequencing: One center's experience
  David Dimmock, Rodney Willoughby, Steven Leuthner, Regan Veith, Michael Gutzeit, Thomas May, Tina Hambuch, Elizabeth Worthey, Howard Jacob, Michael Tschannen, Paula No..., American College of Medical Genetics Annual Meeting, Vancouver, BC, 1/16/2011
• Clinical Whole Genome Sequencing: Genetic Counseling and Informed Consent for Anticipated Incidental Findings
  Regan Veith, David Dimmock, David Bick, Amy White, Stefanie Dugan, American College of Medical Genetics Annual Meeting, Vancouver, BC, 1/16/2011
• Next Generation Sequencing: Guiding the translation from research to clinical applications
  Gargis, A.S., Kalman1, L.V., Berry, M., Bick, D., Dimmock, D.P., Hambuch, T.M., Lu, F., Lyon, L., Voelkerding, K.V., Zehnbauer1, B.A., Lubin, I.M., American Society of Human Genetics/ICHG 2011 Meeting, Montreal, Canada, 1/11/2011
• A New Mutation m.3928G>C p.V208L in ND1 Causes Leigh Disease
  Van Hove, J., Rice, C., Friederich, M., Smet, J., Wong, L., Landsverk, M., Dimmock, D., Thornburn, D., Van Coster, R., Mito Medicine, UMDF, Washington, DC, 1/13/2012
• Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure
  Helbling, D., Buchaklian, A., Wang, J., Wong, L.J., Dimmock, D., J Pediatr Gastroenterol Nutr, 1/17/2013
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Lectures

• Mitochondrial DNA depletion and Liver Failure 
  Milwaukee, WI - 1/1/2009
• Mitochondrial DNA depletion and Acute Liver Failure 
  Kings College Hospital, London, UK - 1/1/2008
• Diagnostic Sequencing 
  San Francisco, CA - 1/20/2012
• Clinical Application of Whole Genome Sequencing in a Children's Hospital 
  Children's Hospital of Fudan University, Shanghai, China, 2013; Fudan University Jinshan Hospital, S - 1/6./2013
• Citrin deficiency from infancy to adulthood 
  Birmingham, UK - 1/4./2012
• Controversial indications for OLT: mitochondrial disease, CDG syndromes and Niemann Pick C 
  Birmingham, UK - 1/3./2012
• Full Genome Sequencing: Potential Future Applications in Everyday Pediatrics? 
  Rzeszow, Poland - 1/26/2012
• Hypoglycemia in Children from Genetic Perspective: Who to Diagnose and Treat 
  Rzeszow, Poland - 1/26/2012
• Lessons from North American Patients with Citrin Deficiency 
  Matsumoto, Japan - 1/6./2011
• Dietary Management of Citrin Deficiency 
  Istanbul, Turkey - 1/28/2010
• Clinical Advances in Whole Genome Sequencing 
  San Francisco, CA - 1/21/2013
• Whole Genome Sequencing in the Clinic, Personalized Medicine is Your Future 
  Honolulu, HI - 1/11/2012
• Whole Genome Sequencing: Lessons from the Clinic - What's Next 
  San Francisco, CA - 1/6./2012
• Clinical Implementation of Individual Complete Genome Sequencing in Children 
  Boston, MA - 1/28/2012
• Overview of Components of Whole Genome Sequencing Clinical Program 
  Charlotte, NC - 1/27/2012
• Data Analysis for Clinical Whole Genome Sequencing 
  Charlotte, NC - 1/27/2012
• Citrin Deficiency and Laboratory Reports 
  Medical College of Wisconsin, Milwaukee, WI - 1/17/2012
• Clinical Application of Genomic Sequencing 
  Dallas, TX - 1/16/2011
• A case based approach to clinical whole genome sequencing 
  Cold Spring Harbor, New York - 1/30/2011
• Genomics and Health Information Technology Systems: Exploring the Issues 
  Bethesda, Maryland - 1/27/2011
• Roundtable on Translating Genomic-Based Research For Health 
  Irvine, CA - 1/21/2011
• Genomics 
  Washington, DC - 1/16/2010
• Molecular Bases and Clinical Spectrum of Cholestatic Liver Disease: An Emerging Clinical Genetics Field 
  Albuquerque, NM - 1/24/2010
• Gene Environment interactions 
  Cincinnati, OH - 1/18/2008
• Diagnosis of Mitochondrial Disease Today and Update on Research at MCW 
  Milwaukee, WI - 1/15/2014
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