David Dimmock

David Dimmock

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David Dimmock

Publications by authors named "David Dimmock"

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Results and Lessons of a Pilot Study of Cascade Screening for Familial Hypercholesterolemia in US Primary Care Practices.

J Gen Intern Med 2019 Oct 30. Epub 2019 Oct 30.

Department of Medicine, Duke University School of Medicine, Durham, NC, USA.

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http://dx.doi.org/10.1007/s11606-019-05485-7DOI Listing
October 2019

Neonatal diabetes mellitus due to a novel variant in the gene.

Cold Spring Harb Mol Case Stud 2019 Aug 1;5(4). Epub 2019 Aug 1.

Division of Pediatric Endocrinology, Department of Pediatrics, University of California, San Diego, La Jolla, California 92093, USA.

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http://dx.doi.org/10.1101/mcs.a004085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672029PMC
August 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage.

Cold Spring Harb Mol Case Stud 2018 12 17;4(6). Epub 2018 Dec 17.

Rady Children's Institute of Genomic Medicine, University of California, San Diego, California 92123, USA.

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http://dx.doi.org/10.1101/mcs.a003525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318776PMC
December 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

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

Rapid whole-genome sequencing identifies a novel variant associated with autoimmune polyendocrine syndrome type 1.

Cold Spring Harb Mol Case Stud 2018 06 1;4(3). Epub 2018 Jun 1.

Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, California 92123, USA.

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http://dx.doi.org/10.1101/mcs.a002485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983174PMC
June 2018

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).

Mol Genet Metab 2018 05 31;124(1):27-38. Epub 2018 Mar 31.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.03.006DOI Listing
May 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

The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.

BMC Neurol 2017 Nov 22;17(1):202. Epub 2017 Nov 22.

Audentes Therapeutics, 600 California Street, Floor 17, San Francisco, CA, 94104, USA.

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http://dx.doi.org/10.1186/s12883-017-0983-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700516PMC
November 2017

Rapid whole-genome sequencing identifies a novel variant associated with West syndrome.

Cold Spring Harb Mol Case Stud 2017 Sep 1;3(5). Epub 2017 Sep 1.

Rady Children's Institute of Genomic Medicine (RCIGM), San Diego, California 92123, USA.

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http://dx.doi.org/10.1101/mcs.a001776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593154PMC
September 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

Necrotizing Enterocolitis Is Not Associated With Sequence Variants in Antioxidant Response Genes in Premature Infants.

J Pediatr Gastroenterol Nutr 2016 Mar;62(3):420-3

*Department of Pediatrics, Medical College of Wisconsin †Children's Research Institute, Children's Hospital and Health Systems, Milwaukee, WI ‡Children's Hospitals and Clinics of Minnesota, Minneapolis §Department of Pediatrics, Iowa Children's Hospital, University of Iowa, Iowa City ¶Department of Pediatrics, Wheaton Franciscan Health Care, St Joseph Hospital, Milwaukee, WI.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5055643PMC
http://dx.doi.org/10.1097/MPG.0000000000000988DOI Listing
March 2016

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

Protocol for the "Implementation, adoption, and utility of family history in diverse care settings" study.

Implement Sci 2015 Nov 24;10:163. Epub 2015 Nov 24.

Duke Center for Applied Genomics & Precision Medicine and Duke Department of Medicine, Duke University, Durham, NC, USA.

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http://dx.doi.org/10.1186/s13012-015-0352-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657284PMC
November 2015

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

Antioxidant response genes sequence variants and BPD susceptibility in VLBW infants.

Pediatr Res 2015 Mar 17;77(3):477-83. Epub 2014 Dec 17.

Department of Pediatrics, Iowa Children's Hospital, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1038/pr.2014.200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4522928PMC
March 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

Clinical decisions. Screening an asymptomatic person for genetic risk.

N Engl J Med 2014 Jun;370(25):2442-5

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http://dx.doi.org/10.1056/NEJMclde1311959DOI Listing
June 2014

Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

J Pediatr Gastroenterol Nutr 2013 Oct;57(4):438-43

*Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI †Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1097/MPG.0b013e31829ef4b4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4966813PMC
October 2013

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

Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias.

Mol Genet Metab 2013 Aug 29;109(4):354-9. Epub 2013 May 29.

Division Genetics & Metabolism, Children's National Medical Center, Dept. of Pediatrics, George Washington University MC, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.05.014DOI Listing
August 2013

Whole genome sequencing: a considered approach to clinical implementation.

Authors:
David Dimmock

Curr Protoc Hum Genet 2013 ;Chapter 9:Unit9.22

Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.

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http://dx.doi.org/10.1002/0471142905.hg0922s77DOI Listing
June 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 personal perspective on returning secondary results of clinical genome sequencing.

Authors:
David Dimmock

Genome Med 2012 Jun 26;4(6):54. Epub 2012 Jun 26.

Division of Genetics, 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/10.1186/gm353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698529PMC
June 2012

Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.

J Pediatr Gastroenterol Nutr 2012 Feb;54(2):291-4

Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53221, USA.

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http://dx.doi.org/10.1097/MPG.0b013e318227e53cDOI Listing
February 2012

Whole exome and whole genome sequencing.

Curr Opin Pediatr 2011 Dec;23(6):594-600

Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

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https://insights.ovid.com/crossref?an=00008480-201112000-000
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http://dx.doi.org/10.1097/MOP.0b013e32834b20ecDOI Listing
December 2011

Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors.

Hum Gene Ther 2011 Apr 16;22(4):483-8. Epub 2011 Feb 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://www.liebertpub.com/doi/10.1089/hum.2010.167
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http://dx.doi.org/10.1089/hum.2010.167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3073075PMC
April 2011

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

Real-time quantitative PCR analysis of mitochondrial DNA content.

Curr Protoc Hum Genet 2011 Jan;Chapter 19:Unit 19.7.

Baylor College of Medicine, Houston, Texas, USA.

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https://www.researchgate.net/profile/David_Dimmock/publicati
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http://doi.wiley.com/10.1002/0471142905.hg1907s68
Publisher Site
http://dx.doi.org/10.1002/0471142905.hg1907s68DOI Listing
January 2011

Quantitative evaluation of the mitochondrial DNA depletion syndrome.

Clin Chem 2010 Jul 6;56(7):1119-27. Epub 2010 May 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1373/clinchem.2009.141549DOI Listing
July 2010

A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.

Mitochondrion 2010 Mar 10;10(2):188-91. Epub 2009 Nov 10.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.mito.2009.11.002DOI Listing
March 2010

Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations.

Neuromuscul Disord 2009 Nov 6;19(11):784-7. Epub 2009 Sep 6.

Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229-3026, USA.

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http://dx.doi.org/10.1016/j.nmd.2009.08.002DOI Listing
November 2009

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Hum Genet 2009 Aug;126(2):341

Pediatrics, Medical College of Wisconsin, Genetics Lab: HRC PD169, Milwaukee, 53226, USA.

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August 2009

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Hum Genet 2009 Aug;126(2):342

Pediatrics, Medical College of Wisconsin, Genetics Lab: HRC PD169, Milwaukee, 53226, USA.

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August 2009

De novo mutations in POLG presenting with acute liver failure or encephalopathy.

J Pediatr Gastroenterol Nutr 2009 Jul;49(1):126-9

Department of Genetics, Endocrinology, and Metabolism, Munroe-Meyer Institute, USA.

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http://dx.doi.org/10.1097/MPG.0b013e31817d9cadDOI Listing
July 2009

Citrin deficiency, a perplexing global disorder.

Mol Genet Metab 2009 Jan 25;96(1):44-9. Epub 2008 Nov 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.10.007DOI Listing
January 2009

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

Clin Chem 2008 Jul 16;54(7):1141-8. Epub 2008 May 16.

Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1373/clinchem.2008.103721DOI Listing
July 2008

Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet.

Pediatrics 2007 Mar;119(3):e773-7

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1542/peds.2006-1950DOI Listing
March 2007