DavidP.DimmockMD

PubMed

• Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
  Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne Slavotinek, Tiffany Yip, Sara...> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 11 citations
  Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria.
  Deborah A. Bilder, Georgianne L. Arnold, David Dimmock, Mitzie Grant, Darren Janzen, Nicola Longo, Mina Nguyen-Driver, Elaina Jurecki, Markus Merilainen, Gianni Amato,...> ;American Journal of Medical Genetics. Part A. 2021 Nov 26
• 9 citations
  Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
  Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry...> ;Annals of Clinical and Translational Neurology. 2021 Oct 18
• 73 citations
  Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
  Ian D. Krantz, Livija Medne, Jamila M Weatherly, K Taylor Wild, Sawona Biswas, Batsal Devkota, Tiffiney R. Hartman, Luca Brunelli, Kristen P. Fishler, Omar A. Abdul-Ra...> ;JAMA Pediatrics. 2021 Sep 27
• 4 citations
  Rapid whole-genome sequencing in critically Ill children: shifting from unease to evidence, education, and equitable implementation.
  Linda S. Franck, David Dimmock, Charlotte A. Hobbs, Stephen F. Kingsmore> ;The Journal of Pediatrics. 2021 Aug 11
• 119 citations
  Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
  David Dimmock, Sara A. Caylor, Bryce Waldman, Wendy Benson, Christina Ashburner, Jason Carmichael, Jeanne Carroll, Elaine Cham, Shimul Chowdhury, John P. Cleary, Arthu...> ;American Journal of Human Genetics. 2021 Jul 1
• 11 citations
  Use of Metagenomic Next-Generation Sequencing to Identify Pathogens in Pediatric Osteoarticular Infections.
  Nanda Ramchandar, Jessica Burns, Nicole G. Coufal, Andrew T. Pennock, Benjamin Briggs, Rita Stinnett, John S. Bradley, John C. Arnold, George Y. Liu, Maya E. Pring, Vi...> ;Open Forum Infectious Diseases. 2021 Jul 1
• 2 citations
  Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome
  Jennifer Friedman, Lynne M. Bird, Richard H. Haas, Shira L. Robbins, Shareef Nahas, David Dimmock, Matthew J. Yousefzadeh, Mariah A. Witt, Laura J. Niedernhofer, Shimu...> ;Molecular Genetics & Genomic Medicine. 2021 Jun 2
• 35 citations
  Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
  Mallory J Owen, Anna-Kaisa Niemi, David Dimmock, Mark Speziale, Mark Nespeca, Kevin K Chau, Luca Van Der Kraan, Meredith S. Wright, Christian Hansen, Narayanan Veerara...> ;The New England Journal of Medicine. 2021 Jun 2
• 5 citations
  Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
  Francis Rossignol, Marvid S. Duarte Moreno, Jean-François Benoist, Manfred Boehm, Emmanuelle Bourrat, Aline Cano, Brigitte Chabrol, Claudine Cosson, José Luis Díaz, Ar...> ;Genetics in Medicine. 2021 May 26
• 1 citations
  Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
  Nathaly M. Sweeney, Shareef Nahas, Shimul Chowdhury, Sergey Batalov, Michelle M. Clark, Sara A. Caylor, Julie A. Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghav...> ;NPJ Genomic Medicine. 2021 May 26
• 2 citations
  Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
  Nathaly M. Sweeney, Shareef Nahas, Shimul Chowdhury, Sergey Batalov, Michelle M. Clark, Sara A. Caylor, Julie A. Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghav...> ;NPJ Genomic Medicine. 2021 May 26
• 25 citations
  Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption.
  Linda S. Franck, Rebecca M. Kriz, Seema Rego, Karen Garman, Charlotte A. Hobbs, David Dimmock> ;The Journal of Pediatrics. 2021 May 21
• 28 citations
  Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
  Nathaly M. Sweeney, Shareef Nahas, Shimul Chowdhury, Sergey Batalov, Michelle M. Clark, Sara A. Caylor, Julie A. Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghav...> ;NPJ Genomic Medicine. 2021 Apr 22
• 4 citations
  Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation.
  Hye Sun Kuehn, Nicholas J. Gloude, David Dimmock, Mari Tokita, Meredith S. Wright, Sergio D. Rosenzweig, Cathleen Collins> ;Journal of Clinical Immunology. 2021 Apr 14
• 9 citations
  Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.
  Indira Chandrasekar, Anne Tourney, Kamela Loo, Jason Carmichael, Kiely N. James, Katarzyna A. Ellsworth, David Dimmock, Maries Joseph> ;American Journal of Medical Genetics. Part A. 2021 Mar 22
• 15 citations
  Metagenomic Next-Generation Sequencing for Pathogen Detection and Transcriptomic Analysis in Pediatric Central Nervous System Infections
  Nanda Ramchandar, Nicole G. Coufal, Anna S. Warden, Benjamin Briggs, Toni Schwarz, Rita Stinnett, Heng Xie, Robert Schlaberg, Jennifer Foley, Christina Clarke, Bryce W...> ;Open Forum Infectious Diseases. 2021 Mar 6
• 22 citations
  An online compendium of treatable genetic disorders.
  David P. Bick, Sarah L Bick, David Dimmock, Tom Fowler, Mark J. Caulfield, Richard H Scott> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2021 Mar 1
• 34 citations
  Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infan...
  Jill L. Maron, Stephen F. Kingsmore, Kristen Wigby, Shimul Chowdhury, David Dimmock, Brenda B. Poindexter, Kristen Suhrie, Jerry Vockley, Thomas G. Diacovo, Bruce D. G...> ;JAMA Pediatrics. 2021 Feb 15
• 2 citations
  Metagenomic Sequencing and Evaluation of the Host Response in the Pediatric Aerodigestive Population
  Chelsea Gatcliffe, Aparna Rao, Matthew Brigger, David Dimmock, Christian Hansen, Jesse Montgomery, Robert Schlaberg, Nicole G. Coufal, Lauge Farnaes> ;Pediatric Pulmonology. 2021 Feb 1
• 3 citations
  The Nucleotide Prodrug CERC‐913 Improves mtDNA Content in Primary Hepatocytes from DGUOK‐Deficient Rats
  Mark A. Vanden Avond, Hui Meng, Margaret Beatka, Daniel Helbling, Mariah J. Prom, Jessica L. Sutton, Rebecca A. Slick, David Dimmock, Fabrizio Pertusati, Michaela Serp...> ;Journal of Inherited Metabolic Disease. 2021 Jan 15
• 2 citations
  Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program.
  Sabrina Malone Jenkins, Rachel Palmquist, Ashley L. Kapron, Carrie B. Torr, D. Hunter Best, Mary Anne Karren, Luca Brunelli, Mark Yandell, Martin Tristani-Firouzi, Dav...> ;Journal of Clinical and Translational Science. 2021 Jan 1
• 11 citations
  ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
  Mariella Simon, Shaya S. Eftekharian, Sacha Ferdinandusse, Sha Tang, Take Naseri, Muagututia Sefuiva Reupena, Stephen T. McGarvey, Ryan L. Minster, Daniel E. Weeks, Da...> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 32 citations
  Clinical utility of genomic sequencing: a measurement toolkit
  Robin Z. Hayeems, David Dimmock, David P. Bick, John W Belmont, Robert C. Green, Brendan C. Lanpher, Vaidehi Jobanputra, Roberto Mendoza, Shashi Kulkarni, Megan E. Gro...> ;NPJ Genomic Medicine. 2020 Dec 15
• 27 citations
  Functional precision medicine identifies new therapeutic candidates for medulloblastoma
  Jessica M. Rusert, Edwin F. Juarez, Sebastian Brabetz, James Jensen, Alexandra Garancher, Lianne Q. Chau, Silvia K. Tacheva-Grigorova, Sameerah Wahab, Yoko T. Udaka, D...> ;Cancer Research. 2020 Dec 1
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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
• Citrin Deficiency and Laboratory Reports 
  Medical College of Wisconsin, Milwaukee, WI - 1/17/2012
• Whole Genome Sequencing, Lessons Learnt 
  Milwaukee, WI - 1/5./2012
• Clinical application of Whole Genome Sequencing 
  Madison, WI, 2011; Chicago, IL, 2012 - 1/10/2012
• Mutation Detection Using Massively Parallel Sequencing - From Data Generation to Variant Annotation 
  University of Iowa Carver College of Medicine, Iowa City, IA - 1/1./2012
• DGUOK Deficiency: Diversity of a Disease, Developing Diagnostics, Designing a Drug 
  Milwaukee, WI - 1/26/2012
• Ethical Considerations - Breakout Session 
  Marquette University Alumni Memorial Union, Milwaukee, WI - 1/17/2012
• Diagnosis of Mitochondrial Disease Today and Update on Research at MCW 
  Milwaukee, WI - 1/15/2014
• Gene Environment interactions 
  Cincinnati, OH - 1/18/2008
• Molecular Bases and Clinical Spectrum of Cholestatic Liver Disease: An Emerging Clinical Genetics Field 
  Albuquerque, NM - 1/24/2010
• Genomics 
  Washington, DC - 1/16/2010
• Roundtable on Translating Genomic-Based Research For Health 
  Irvine, CA - 1/21/2011
• Genomics and Health Information Technology Systems: Exploring the Issues 
  Bethesda, Maryland - 1/27/2011
• A case based approach to clinical whole genome sequencing 
  Cold Spring Harbor, New York - 1/30/2011
• Clinical Application of Genomic Sequencing 
  Dallas, TX - 1/16/2011
• Diagnostic Sequencing 
  San Francisco, CA - 1/20/2012
• Data Analysis for Clinical Whole Genome Sequencing 
  Charlotte, NC - 1/27/2012
• Overview of Components of Whole Genome Sequencing Clinical Program 
  Charlotte, NC - 1/27/2012
• Clinical Implementation of Individual Complete Genome Sequencing in Children 
  Boston, MA - 1/28/2012
• Whole Genome Sequencing: Lessons from the Clinic - What's Next 
  San Francisco, CA - 1/6./2012
• Whole Genome Sequencing in the Clinic, Personalized Medicine is Your Future 
  Honolulu, HI - 1/11/2012
• Clinical Advances in Whole Genome Sequencing 
  San Francisco, CA - 1/21/2013
• Dietary Management of Citrin Deficiency 
  Istanbul, Turkey - 1/28/2010
• Lessons from North American Patients with Citrin Deficiency 
  Matsumoto, Japan - 1/6./2011
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