Lee-Jun Wong

Lee-Jun Wong

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Lee-Jun Wong

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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.

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

The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.

Mol Genet Metab 2019 04 25;126(4):429-438. Epub 2019 Jan 25.

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

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http://dx.doi.org/10.1016/j.ymgme.2019.01.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773428PMC
April 2019

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

JIMD Rep 2019 Mar 14;46(1):63-69. Epub 2019 Mar 14.

Division of Genetics and Genomics, Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts.

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http://dx.doi.org/10.1002/jmd2.12018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498818PMC
March 2019

Mitochondrial inheritance and cancer.

Transl Res 2018 12 25;202:24-34. Epub 2018 Jun 25.

Section of Hematology-Oncology, Department of Medicine, Baylor College of Medicine, Houston, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.trsl.2018.06.004DOI Listing
December 2018

Extra-muscular manifestations of TK2 deficiency.

Mol Genet Metab Rep 2018 Sep 21;16:30. Epub 2018 Jun 21.

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

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http://dx.doi.org/10.1016/j.ymgmr.2018.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019690PMC
September 2018

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.

Mol Genet Metab 2018 06 28;124(2):124-130. Epub 2018 Apr 28.

Department of Human and Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.04.012DOI Listing
June 2018

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:

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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:

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

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.

Orphanet J Rare Dis 2017 12 19;12(1):182. Epub 2017 Dec 19.

Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.

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http://dx.doi.org/10.1186/s13023-017-0732-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735900PMC
December 2017

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.

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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.

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

Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

PLoS One 2016 27;11(10):e0165405. Epub 2016 Oct 27.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0165405PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082937PMC
June 2017

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.

Mol Genet Metab 2017 03 12;120(3):213-222. Epub 2016 Nov 12.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346465PMC
March 2017

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 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.

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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:

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

Comprehensive Mitochondrial Genome Analysis by Massively Parallel Sequencing.

Methods Mol Biol 2016 ;1351:3-17

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

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http://dx.doi.org/10.1007/978-1-4939-3040-1_1DOI Listing
September 2016

Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.

Mol Genet Metab 2016 08 20;118(4):264-71. Epub 2016 May 20.

Department of Human Genetics, McGill University, Montreal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.05.014DOI Listing
August 2016

Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.

Muscle Nerve 2016 06 25;53(6):984-8. Epub 2016 Apr 25.

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

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http://dx.doi.org/10.1002/mus.25054DOI Listing
June 2016

Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

Genet Med 2016 05 24;18(5):513-21. Epub 2015 Sep 24.

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

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http://dx.doi.org/10.1038/gim.2015.121DOI Listing
May 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:

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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.

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

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.

J Pediatr 2016 Feb 18;169:208-13.e2. Epub 2015 Nov 18.

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

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http://dx.doi.org/10.1016/j.jpeds.2015.10.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729603PMC
February 2016

Dystrophinopathy mimicking metabolic myopathies.

Neuromuscul Disord 2015 Aug 11;25(8):653-7. Epub 2015 Apr 11.

Department of Neurology, Washington University School of Medicine, Campus Box 8111, 660 South Euclid Avenue, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1016/j.nmd.2015.04.001DOI Listing
August 2015

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Neurol Genet 2015 Aug 13;1(2):e14. Epub 2015 Aug 13.

Baylor Miraca Genetics Laboratories (X.T., Y.F., J.W., V.W.Z., L.-J.W.), Houston, TX; Department of Pediatrics (W.-C.L., Y.-J.J.), Department of Laboratory Medicine (Y.-J.J.), and Department of Pathology (W.-T.C.), Kaohsiung Medical University Hospital, Kaohsiung, Taiwan; Graduate Institute of Medicine (Y.-J.J.), College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Molecular and Human Genetics (J.W., V.W.Z., L.-J.W.), Baylor College of Medicine, Houston, TX; Institute of Bioinformatics and Systems Biology (C.-H.C., H.-D.H.), and Department of Biological Science and Technology (H.-D.H., Y.-J.J.), National Chiao Tung University, Hsinchu, Taiwan; Department of Pathology (C.W.L.), The University of Hong Kong, Pokfulam, Hong Kong; and Department of Neurology (T.-S.L.), National Cheng Kung University Medical College and Hospital, Tainan, Taiwan.

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http://dx.doi.org/10.1212/NXG.0000000000000015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807910PMC
August 2015

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.

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

Myopathy during treatment with the antianginal drug ranolazine.

J Neurol Sci 2014 Dec 31;347(1-2):380-2. Epub 2014 Oct 31.

Department of Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.10.037DOI Listing
December 2014

Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

JIMD Rep 2014 23;14:29-35. Epub 2013 Nov 23.

Division of Metabolic Disorders, CHOC Children's Hospital, 1201 West La Vita, Orange, CA, 92868, USA.

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http://dx.doi.org/10.1007/8904_2013_280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213341PMC
October 2014

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.

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

Novel mutation featuring spastic paraparesis and intestinal dysmotility.

Mol Genet Metab Rep 2014 8;1:443-445. Epub 2014 Oct 8.

Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121360PMC
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.

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

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.

Am J Med Genet A 2014 Jul 3;164A(7):1642-7. Epub 2014 Apr 3.

Departamento de Genética, Facultad de Medicina y Hospital Universitario "José E. González", Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, México.

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http://dx.doi.org/10.1002/ajmg.a.36508DOI Listing
July 2014

Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.

From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.

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http://www.neurology.org/content/82/23/2063.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000049
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 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.

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

Diagnosis of mitochondrial myopathies.

Mol Genet Metab 2013 Sep-Oct;110(1-2):35-41. Epub 2013 Jul 17.

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

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http://dx.doi.org/10.1016/j.ymgme.2013.07.007DOI Listing
March 2014

Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.

Hum Mutat 2014 Jan 25;35(1):27-35. Epub 2013 Nov 25.

Division of Metabolism, University Children's Hospital, Zurich, Switzerland; Children's Research Center, Zurich, Switzerland.

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http://dx.doi.org/10.1002/humu.22469DOI Listing
January 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.

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

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.

Mol Genet Metab 2013 Dec 4;110(4):465-71. Epub 2013 Oct 4.

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

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http://dx.doi.org/10.1016/j.ymgme.2013.09.018DOI Listing
December 2013

Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle.

JAMA Neurol 2013 Nov;70(11):1429-31

Department of Neurology, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1001/jamaneurol.2013.3521DOI Listing
November 2013

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

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.

BMC Med Genet 2013 Aug 16;14:83. Epub 2013 Aug 16.

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

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http://dx.doi.org/10.1186/1471-2350-14-83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751849PMC
August 2013

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.

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

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

Mol Genet Metab 2013 Jul 17;109(3):260-8. Epub 2013 Apr 17.

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

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http://dx.doi.org/10.1016/j.ymgme.2013.04.006DOI 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.

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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.

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

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.

Genet Med 2013 Feb 16;15(2):106-14. Epub 2012 Aug 16.

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

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http://www.nature.com/articles/gim2012104
Publisher Site
http://dx.doi.org/10.1038/gim.2012.104DOI Listing
February 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.

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

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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.

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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.

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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.

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

Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders.

Mol Genet Metab 2012 Jun 21;106(2):221-30. Epub 2012 Mar 21.

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

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https://linkinghub.elsevier.com/retrieve/pii/S10967192120010
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http://dx.doi.org/10.1016/j.ymgme.2012.03.005DOI Listing
June 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.

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

Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

Discov Med 2012 Feb;13(69):143-50

Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3618896PMC
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.

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