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Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

Genetics in medicine, 2013-05, Vol.15 (5), p.388-394

2013

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Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

Human mutation, 2013-06, Vol.34 (6), p.882-893

2013

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Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome

Clinical genetics, 2005-03, Vol.67 (3), p.252-257

2005

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Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer

Cancer research (Chicago, Ill.), 2002-02, Vol.62 (4), p.972-976

2002

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Abstract P2-02-14: Metabolic regulation and drug resistance in c-Src activated triple negative breast cancer

Cancer research (Chicago, Ill.), 2019-02, Vol.79 (4_Supplement), p.P2-P2-02-14

2019

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Diagnostic approaches to apparent homozygosity

Genetics in medicine, 2012-10, Vol.14 (10), p.877-882

2012

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

Genetics in medicine, 2012-06, Vol.14 (6), p.620-626

2012

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Abstract P6-01-07: Mitochondria-nuclear communication regulates epithelial-mesenchymal transition and metastasis in triple negative breast cancer

Cancer research (Chicago, Ill.), 2017-02, Vol.77 (4_Supplement), p.P6-P6-01-07

2017

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

Genetics in medicine, 2009-07, Vol.11 (7), p.518-526

2009

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Abstract P5-03-07: CD24 epigenetic regulation in breast cancer tissues and tumor initiating cells: Promoter specific analysis using next generation sequencing

Cancer research (Chicago, Ill.), 2013-12, Vol.73 (24_Supplement), p.P5-P5-03-07

2013

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Mitochondrial DNA variant interactions modify breast cancer risk

Journal of human genetics, 2008-10, Vol.53 (10), p.924-928

2008

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Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

Molecular genetics and metabolism, 2009, Vol.96 (1), p.38-43

2009

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Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation

American journal of medical genetics, 2004-02, Vol.124A (4), p.377-382

2004

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Molecular analysis for mitochondrial DNA disorders

Mitochondrion, 2004-09, Vol.4 (5-6), p.403-415

2004

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Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy

Genetics in medicine, 2006-10, Vol.8 (10), p.641-652

2006

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Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations

American journal of medical genetics, 2003-07, Vol.120A (2), p.296-298

2003

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Biochemical characterization of pectate lyases produced by fluorescent pseudomonads associated with spoilage of fresh fruits and vegetables

Journal of applied microbiology, 1997-07, Vol.83 (1), p.10-16

1997

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1154insTC is not a rare CFTR mutation

American journal of medical genetics, 2003-07, Vol.120A (2), p.294-295

2003

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312 IS THE VARIABLE CLINICAL PHENOTYPE ASSOCIATED WITH THE T8993G NARP (NEUROPATHY, ATAXIA, RETINITIS PIGMENTOSA) MITOCHONDRIAL DNA MUTATION SOLELY A FUNCTION OF DEGREE OF HETEROPLASMY?

Journal of investigative medicine, 2004-01, Vol.52 (Suppl 1), p.S133-S134

2004

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Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene

Human genetics, 1998-08, Vol.103 (2), p.199-203

1998

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PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE 1a BY DIRECT MUTATION DETECTION

Prenatal diagnosis, 1996-02, Vol.16 (2), p.105-108

WONG, LEE-JUN C.

1996

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Characterization of the cDNA and the Gene Encoding Murine Adenylosuccinate Lyase

Genomics (San Diego, Calif.), 1995-07, Vol.28 (2), p.341-343

1995

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Kinetic mechanism of the reaction catalyzed by nuclear histone acetyltransferase A from calf thymus

Biochemistry (Easton), 1983-01, Vol.22 (20), p.4637-4641

1983

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Novel homoplasmic mutation in the mitochondrial tRNA super(Tyr) gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis

American journal of medical genetics, 2003-01, Vol.123A (2), p.172-178

2003

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Inhibition of in vitro RNA synthesis by hycanthone, oxamniquine and praziquantel

Experientia, 1990-05, Vol.46 (5), p.461-464

1990

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Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome

Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer

Abstract P2-02-14: Metabolic regulation and drug resistance in c-Src activated triple negative breast cancer

Diagnostic approaches to apparent homozygosity

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

Abstract P6-01-07: Mitochondria-nuclear communication regulates epithelial-mesenchymal transition and metastasis in triple negative breast cancer

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

Abstract P5-03-07: CD24 epigenetic regulation in breast cancer tissues and tumor initiating cells: Promoter specific analysis using next generation sequencing

Mitochondrial DNA variant interactions modify breast cancer risk

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation

Molecular analysis for mitochondrial DNA disorders

Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy

Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations

Biochemical characterization of pectate lyases produced by fluorescent pseudomonads associated with spoilage of fresh fruits and vegetables

1154insTC is not a rare CFTR mutation

312 IS THE VARIABLE CLINICAL PHENOTYPE ASSOCIATED WITH THE T8993G NARP (NEUROPATHY, ATAXIA, RETINITIS PIGMENTOSA) MITOCHONDRIAL DNA MUTATION SOLELY A FUNCTION OF DEGREE OF HETEROPLASMY?

Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene

PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE 1a BY DIRECT MUTATION DETECTION

Characterization of the cDNA and the Gene Encoding Murine Adenylosuccinate Lyase

Kinetic mechanism of the reaction catalyzed by nuclear histone acetyltransferase A from calf thymus

Novel homoplasmic mutation in the mitochondrial tRNA super(Tyr) gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis

Inhibition of in vitro RNA synthesis by hycanthone, oxamniquine and praziquantel

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