David P Dimmock

David P Dimmock

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David P Dimmock

David P Dimmock

Publications by authors named "David P Dimmock"

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A Screen Using iPSC-Derived Hepatocytes Reveals NAD as a Potential Treatment for mtDNA Depletion Syndrome.

Cell Rep 2018 11;25(6):1469-1484.e5

Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, 173 Ashley Avenue, Charleston, SC 29425, USA; Hollings Cancer Center, Medical University of South Carolina, 86 Jonathan Lucas Street, Charleston, SC 29425, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22111247183161
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http://dx.doi.org/10.1016/j.celrep.2018.10.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289059PMC
November 2018

Response to Metcalfe et al.

Authors:
David P Dimmock

Genet Med 2018 09;20(9):1093

Rady Children's Institute for Genomic Medicine, San Diego, California, USA.

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http://dx.doi.org/10.1038/gim.2017.208DOI Listing
September 2018

Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.

Pediatr Neurol 2018 09 10;86:69-70. Epub 2018 Jul 10.

Department of Neuroscience at the University of California, San Diego, San Diego, California; Department of Pediatrics at the University of California, San Diego, San Diego, California. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824418PMC
September 2018

Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.

Mol Genet Metab 2018 04 27;123(4):428-432. Epub 2018 Feb 27.

Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, United States; Department of Pediatrics, School of Medicine, Emory University, Children's Healthcare of Atlanta, Atlanta, GA, United States.

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http://dx.doi.org/10.1016/j.ymgme.2018.02.016DOI Listing
April 2018

Should we implement population screening for fragile X?

Authors:
David P Dimmock

Genet Med 2017 12 3;19(12):1295-1299. Epub 2017 Aug 3.

Rady Children's Institute for Genomic Medicine, San Diego, California, USA.

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http://dx.doi.org/10.1038/gim.2017.81DOI Listing
December 2017

Efficient Precision Genome Editing in iPSCs via Genetic Co-targeting with Selection.

Stem Cell Reports 2017 03 24;8(3):491-499. Epub 2017 Feb 24.

Cardiovascular Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA; Department of Physiology, Medical College of Wisconsin, Milwaukee, WI 53226, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2017.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5355643PMC
March 2017

Presentation and Diagnostic Evaluation of Mitochondrial Disease.

Pediatr Clin North Am 2017 Feb;64(1):161-171

Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Neuroscience Research Center, Medical College of Wisconsin, 8701 Watertown Plank Road, TBRC Building, Room C4490, Milwaukee, WI 53226, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2016.08.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130109PMC
February 2017

Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.

Free Radic Biol Med 2016 Mar 8;92:141-151. Epub 2016 Jan 8.

Human Molecular Genetics Center and Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5047058PMC
http://dx.doi.org/10.1016/j.freeradbiomed.2016.01.001DOI Listing
March 2016

Should states adopt newborn screening for early infantile Krabbe disease?

Authors:
David P Dimmock

Genet Med 2016 Mar 4;18(3):217-20. Epub 2016 Feb 4.

Human Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

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http://dx.doi.org/10.1038/gim.2016.6DOI Listing
March 2016

SIGIRR genetic variants in premature infants with necrotizing enterocolitis.

Pediatrics 2015 Jun 11;135(6):e1530-4. Epub 2015 May 11.

Children's Research Institute, Department of Pediatrics, Human Molecular Genetics Center, and.

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http://dx.doi.org/10.1542/peds.2014-3386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444800PMC
June 2015

Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care.

Pediatr Cardiol 2014 Dec 3;35(8):1474-7. Epub 2014 Sep 3.

Medical College of Wisconsin, Milwaukee, WI, USA,

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http://dx.doi.org/10.1007/s00246-014-1002-7DOI Listing
December 2014

Ethical issues in DNA sequencing in the neonate.

Clin Perinatol 2014 Dec 23;41(4):993-1000. Epub 2014 Sep 23.

Medical College of Wisconsin, 8701 West Watertown Plank Road, Milwaukee, WI 53226, USA.

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http://dx.doi.org/10.1016/j.clp.2014.08.016DOI Listing
December 2014

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.

J Neurodev Disord 2013 Oct 2;5(1):29. Epub 2013 Oct 2.

Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI, 53705, USA.

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http://dx.doi.org/10.1186/1866-1955-5-29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851280PMC
October 2013

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.

Mol Genet Metab 2012 Sep 26;107(1-2):92-4. Epub 2012 Apr 26.

Department of Pediatrics and Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI 53221, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.04.019DOI Listing
September 2012

A timely arrival for genomic medicine.

Genet Med 2011 Mar;13(3):195-6

Department of Pediatrics, Section of Gastroenterology, Division of Pediatric Surgery, The Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3182095089DOI Listing
March 2011