Lee-Jun C Wong

Lee-Jun C Wong

UNVERIFIED PROFILE

Are you Lee-Jun C Wong?   Register this Author

Register author
Lee-Jun C Wong

Lee-Jun C Wong

Publications by authors named "Lee-Jun C Wong"

Are you Lee-Jun C Wong?   Register this Author

95Publications

2489Reads

8Profile Views

Interpretation of mitochondrial tRNA variants.

Genet Med 2020 Jan 22. Epub 2020 Jan 22.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0746-0DOI Listing
January 2020

Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report.

J Allergy Clin Immunol Pract 2017 Sep - Oct;5(5):1442-1444. Epub 2017 Apr 21.

Immunology, Allergy and Rheumatology Section, Baylor College of Medicine, Houston, Texas; Department of Pediatrics, Texas Children's Hospital, Houston, Texas; Baylor College of Medicine, Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2017.03.004DOI Listing
June 2019

Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.

Mol Genet Metab 2018 05 27;124(1):71-81. Epub 2018 Mar 27.

Department of Anatomy and Regenerative Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2018.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016550PMC
May 2018

Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.

Neuromuscul Disord 2018 04 23;28(4):350-360. Epub 2017 Nov 23.

FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952895PMC
April 2018

Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.

Am J Med Genet A 2017 Sep 28;173(9):2500-2504. Epub 2017 Jun 28.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38333DOI Listing
September 2017

The phenotypic variability of HK1-associated retinal dystrophy.

Sci Rep 2017 08 1;7(1):7051. Epub 2017 Aug 1.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-017-07629-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5539152PMC
August 2017

Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.

Prenat Diagn 2016 Dec 18;36(12):1135-1138. Epub 2016 Nov 18.

Departments of Pediatrics and Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4949DOI Listing
December 2016

Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.

J Mol Diagn 2016 11 10;18(6):817-824. Epub 2016 Sep 10.

Department of Molecular and Human Genetics, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2016.06.007DOI Listing
November 2016

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

J Mol Diagn 2016 05 2;18(3):446-453. Epub 2016 Mar 2.

Baylor Miraca Genetics Laboratories, Houston, Texas; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2016.01.002DOI Listing
May 2016

ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.

Hum Mutat 2016 Mar 6;37(3):246-9. Epub 2016 Jan 6.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22940DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5383450PMC
March 2016

Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.

Genet Med 2015 Feb 17;17(2):99-107. Epub 2014 Jul 17.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338802PMC
February 2015

Hepatic SRC-1 activity orchestrates transcriptional circuitries of amino acid pathways with potential relevance for human metabolic pathogenesis.

Mol Endocrinol 2014 Oct 22;28(10):1707-18. Epub 2014 Aug 22.

Departments of Molecular and Cellular Biology (M.T.-L., B.Y., K.T., E.S., S.Z., J.X., B.W.O., J.-F.L.), Urology (M.T.-L.), and Molecular and Human Genetics (H.Y., L.-J.C.W.), Baylor College of Medicine, Houston, Texas 77030; Sarah W. Stedman Nutrition and Metabolism Center and Department of Pharmacology and Cancer Biology (R.D.S., C.B.N.), Duke University Medical Center, Durham, North Carolina 27704; Laboratory of Genetics, Immunology and Human Pathologies (H.B.), Faculty of Mathematical, Physical, and Natural Sciences of Tunis, Tunis EL Manar University, Tunis 2092, Tunisia; and Centre Méditerranéen de Médecine Moléculaire (H.B., J.-F.L.), Inserm 1065, Nice 06204, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/me.2014-1083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4179626PMC
October 2014

A mutation in a patient with mitochondrial DNA depletion and congenital anomalies.

Mol Genet Metab Rep 2014 14;1:451-454. Epub 2014 Oct 14.

Hayward Genetics Center, Tulane University, New Orleans, LA, USA; Department of Pediatrics, Tulane University, New Orleans, LA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2014.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121340PMC
October 2014

Application of next generation sequencing to molecular diagnosis of inherited diseases.

Top Curr Chem 2014 ;336:19-45

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX, 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/128_2012_325DOI Listing
May 2014

Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in

Mol Genet Metab Rep 2014 ;1:61-65

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas ; Texas Children's Hospital, Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2013.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185924PMC
January 2014

Next generation molecular diagnosis of mitochondrial disorders.

Authors:
Lee-Jun C Wong

Mitochondrion 2013 Jul 6;13(4):379-87. Epub 2013 Mar 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2013.02.001DOI Listing
July 2013

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Hum Mutat 2013 Jun 2;34(6):882-93. Epub 2013 Apr 2.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22307DOI Listing
June 2013

Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories.

Authors:
Lee-Jun C Wong

Neurotherapeutics 2013 Apr;10(2):262-72

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13311-012-0170-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625389PMC
April 2013

Diagnostic approaches to apparent homozygosity.

Genet Med 2012 Oct 17;14(10):877-82. Epub 2012 May 17.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2012.58DOI Listing
October 2012

Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presenting as acute meningoencephalitis: a case report.

J Emerg Med 2012 Sep 29;43(3):e163-6. Epub 2009 Dec 29.

Department of Neurology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jemermed.2009.10.021DOI Listing
September 2012

Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing.

Clin Chem 2012 Sep 9;58(9):1322-31. Epub 2012 Jul 9.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2011.181438DOI Listing
September 2012

SURF1-associated Leigh syndrome: a case series and novel mutations.

Hum Mutat 2012 Aug 30;33(8):1192-200. Epub 2012 Apr 30.

Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22095DOI Listing
August 2012

Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene.

J Neurol Sci 2012 Aug 24;319(1-2):158-63. Epub 2012 May 24.

Department of Neurology, Mayo Clinic, 200 1st St SW, Rochester, MN 55905, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2012.05.003DOI Listing
August 2012

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience.

Genet Med 2012 Jun 8;14(6):620-6. Epub 2012 Mar 8.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2012.4DOI Listing
June 2012

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

J Neurol 2012 May 13;259(5):862-8. Epub 2011 Oct 13.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-011-6268-6DOI Listing
May 2012

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.

Mol Genet Metab 2012 Apr 24;105(4):607-14. Epub 2012 Jan 24.

Division of Medical Genetics, Department of Child Health, University of Missouri Health Care, Columbia, MO 65212, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2012.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4093801PMC
April 2012

Individualizing antimetabolic treatment strategies for head and neck squamous cell carcinoma based on TP53 mutational status.

Cancer 2012 Feb 30;118(3):711-21. Epub 2011 Jun 30.

Bobby R. Alford Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/cncr.26321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3188683PMC
February 2012

Mitochondrial syndromes with leukoencephalopathies.

Authors:
Lee-Jun C Wong

Semin Neurol 2012 Feb 15;32(1):55-61. Epub 2012 Mar 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0032-1306387DOI Listing
February 2012

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.

J Hum Genet 2011 Dec 20;56(12):834-9. Epub 2011 Oct 20.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2011.112DOI Listing
December 2011

Mitochondrial DNA content varies with pathological characteristics of breast cancer.

J Oncol 2011 17;2011:496189. Epub 2011 Oct 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2011/496189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199065PMC
November 2011

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

J Med Genet 2011 Oct 31;48(10):669-81. Epub 2011 Aug 31.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2011-100222DOI Listing
October 2011

Mitochondria of highly metastatic breast cancer cell line MDA-MB-231 exhibits increased autophagic properties.

Biochim Biophys Acta 2011 Sep 5;1807(9):1125-32. Epub 2011 May 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00052728110010
Publisher Site
http://dx.doi.org/10.1016/j.bbabio.2011.04.015DOI Listing
September 2011

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.

Mol Genet Metab 2011 Aug 7;103(4):349-57. Epub 2011 May 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.05.001DOI Listing
August 2011

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.

Mol Genet Metab 2011 Jul 11;103(3):262-7. Epub 2011 Mar 11.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.03.006DOI Listing
July 2011

Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders.

Mol Genet Metab 2011 Jun 10;103(2):148-52. Epub 2011 Mar 10.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.03.003DOI Listing
June 2011

Heterogeneous patterns of tissue injury in NARP syndrome.

J Neurol 2011 Mar 16;258(3):440-8. Epub 2010 Oct 16.

Department of Neurology, University of California, San Francisco, CA 94143-0114, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-010-5775-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3068520PMC
March 2011

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.

Mitochondrion 2011 Jan 12;11(1):104-7. Epub 2010 Aug 12.

Murdoch Childrens Research Institute and Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2010.07.012DOI Listing
January 2011

Molecular genetics of mitochondrial disorders.

Authors:
Lee-Jun C Wong

Dev Disabil Res Rev 2010 ;16(2):154-62

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ddrr.104DOI Listing
January 2011

Molecular characterization of CPS1 deletions by array CGH.

Mol Genet Metab 2011 Jan 19;102(1):103-6. Epub 2010 Sep 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2010.08.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869965PMC
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.

View Article

Download full-text PDF

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

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.

Mol Genet Metab 2010 Jul 14;100(3):296-9. Epub 2010 Apr 14.

Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2010.04.004DOI Listing
July 2010

Exercise intolerance due to cytochrome b mutation.

Muscle Nerve 2010 Jul;42(1):136-40

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.21649DOI Listing
July 2010

Functional effects of cancer mitochondria on energy metabolism and tumorigenesis: utility of transmitochondrial cybrids.

Ann N Y Acad Sci 2010 Jul;1201:137-46

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1749-6632.2010.05621.xDOI Listing
July 2010

Current molecular diagnostic algorithm for mitochondrial disorders.

Mol Genet Metab 2010 Jun 4;100(2):111-7. Epub 2010 Mar 4.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2010.02.024DOI Listing
June 2010

A common mitochondrial polymorphism 10398A>G is associated metabolic syndrome in a Chinese population.

Mitochondrion 2010 Apr 11;10(3):294-9. Epub 2010 Jan 11.

Department of Medical Research, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2010.01.001DOI Listing
April 2010

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

Seizure 2010 Apr 6;19(3):140-6. Epub 2010 Feb 6.

Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, WA 98105, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2010.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3099441PMC
April 2010

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

Mol Genet Metab 2010 Mar 13;99(3):300-8. Epub 2009 Oct 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor plaza, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192090028
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2009.10.003DOI Listing
March 2010

Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis.

J Am Soc Nephrol 2010 Feb 3;21(2):272-83. Epub 2009 Dec 3.

Department of Pediatrics, G306, 300 Pasteur Drive, Stanford, CA 94304, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1681/ASN.2009040383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2834547PMC
February 2010

Mitochondrial dysfunction in human breast cancer cells and their transmitochondrial cybrids.

Biochim Biophys Acta 2010 Jan 4;1797(1):29-37. Epub 2009 Aug 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbabio.2009.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2787670PMC
January 2010

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.

View Article

Download full-text PDF

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

Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure.

J Pediatr Gastroenterol Nutr 2009 Jul;49(1):130-2

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305-5208, USA.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00005176-200907000-000
Publisher Site
http://dx.doi.org/10.1097/MPG.0b013e31819de7a6DOI Listing
July 2009

Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.

Genet Med 2009 Jul;11(7):518-26

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e3181abd83cDOI Listing
July 2009

Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.

Invest Ophthalmol Vis Sci 2009 Apr 7;50(4):1838-47. Epub 2008 Nov 7.

Department of Ophthalmology, University of California, San Francisco, California 94143-0730, USA.

View Article

Download full-text PDF

Source
http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
Publisher Site
http://dx.doi.org/10.1167/iovs.08-2029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836613PMC
April 2009

Mitochondrial DNA variant interactions modify breast cancer risk.

J Hum Genet 2008 19;53(10):924-8. Epub 2008 Aug 19.

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

View Article

Download full-text PDF

Source
http://www.nature.com/doifinder/10.1007/s10038-008-0331-x
Publisher Site
http://dx.doi.org/10.1007/s10038-008-0331-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2767522PMC
November 2008

Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.

J Transl Med 2008 Nov 30;6:74. Epub 2008 Nov 30.

Department of Otolaryngology and Genetic Testing Center for Deafness, Chinese PLA General Hospital, Beijing, PR China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1479-5876-6-74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2630943PMC
November 2008

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.

Neuromuscul Disord 2008 Aug 27;18(8):626-32. Epub 2008 Jun 27.

Department of Neurology, Mayo Clinic, Rochester, MN, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2008.05.009DOI Listing
August 2008

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.

View Article

Download full-text PDF

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

Alpers syndrome with prominent white matter changes.

Brain Dev 2008 Apr 17;30(4):295-300. Epub 2007 Oct 17.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2007.08.009DOI Listing
April 2008

Human mitochondrial transfer RNAs: role of pathogenic mutation in disease.

Muscle Nerve 2008 Feb;37(2):150-71

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mus.20917
Publisher Site
http://dx.doi.org/10.1002/mus.20917DOI Listing
February 2008

Real-time quantitative polymerase chain reaction analysis of mitochondrial DNA point mutation.

Methods Mol Biol 2006 ;335:187-200

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1385/1-59745-069-3:187DOI Listing
October 2007

First prenatal exclusion of cystic fibrosis in East Asia.

Pediatr Int 2007 Oct;49(5):686-7

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1442-200X.2007.02437.xDOI Listing
October 2007

Pathogenic mitochondrial DNA mutations in protein-coding genes.

Authors:
Lee-Jun C Wong

Muscle Nerve 2007 Sep;36(3):279-93

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.20807DOI Listing
September 2007

Diagnostic challenges of mitochondrial DNA disorders.

Authors:
Lee-Jun C Wong

Mitochondrion 2007 Feb-Apr;7(1-2):45-52. Epub 2006 Dec 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2006.11.025DOI Listing
July 2007

Mitochondrial genetic background modifies breast cancer risk.

Cancer Res 2007 May;67(10):4687-94

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1158/0008-5472.CAN-06-3554DOI Listing
May 2007

Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys.

Muscle Nerve 2006 Oct;34(4):437-43

Department of Pediatrics, Division of Medical Genetics, University of Texas Health Science Center, Houston, Texas, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.20605DOI Listing
October 2006

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.

Am J Med Genet A 2006 Oct;140(20):2216-22

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31436DOI Listing
October 2006

Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy.

Genet Med 2006 Oct;8(10):641-52

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.gim.0000237781.10594.d1DOI Listing
October 2006

Molecular analysis of mitochondrial DNA point mutations by polymerase chain reaction.

Methods Mol Biol 2006 ;336:135-43

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1385/1-59745-074-X:135DOI Listing
September 2006

AIB1 gene amplification and the instability of polyQ encoding sequence in breast cancer cell lines.

BMC Cancer 2006 May 2;6:111. Epub 2006 May 2.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2407-6-111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1468420PMC
May 2006