Works matching AU Wong, Lee-Jun

Results: 60

Clinical and laboratory interpretation of mitochondrial mRNA variants.

Published in:

Human Mutation, 2020, v. 41, n. 10, p. 1783, doi. 10.1002/humu.24082

By:

Wong, Lee‐Jun C.;
Chen, Ting;
Schmitt, Eric S.;
Wang, Jing;
Tang, Sha;
Landsverk, Megan;
Li, Fangyuan;
Zhang, Shulin;
Wang, Yue;
Zhang, Victor W.;
Craigen, William J.

Publication type:

Article

ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 246, doi. 10.1002/humu.22940

By:

Xu, Mingchu;
Eblimit, Aiden;
Wang, Jing;
Li, Jianli;
Wang, Feng;
Zhao, Li;
Wang, Xia;
Xiao, Ningna;
Li, Yumei;
Wong, Lee‐Jun C.;
Lewis, Richard A.;
Chen, Rui

Publication type:

Article

Mutations and Polymorphisms in the Human Argininosuccinate Lyase ( ASL) Gene.

Published in:

Human Mutation, 2014, v. 35, n. 1, p. 27, doi. 10.1002/humu.22469

By:

Balmer, Cécile;
Pandey, Amit V.;
Rüfenacht, Véronique;
Nuoffer, Jean‐Marc;
Fang, Ping;
Wong, Lee‐Jun;
Häberle, Johannes

Publication type:

Article

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

Published in:

Human Mutation, 2013, v. 34, n. 6, p. 882, doi. 10.1002/humu.22307

By:

Tang, Sha;
Wang, Jing;
Zhang, Victor Wei;
Li, Fang‐Yuan;
Landsverk, Megan;
Cui, Hong;
Truong, Cavatina K.;
Wang, Guoli;
Chen, Li Chieh;
Graham, Brett;
Scaglia, Fernando;
Schmitt, Eric S.;
Craigen, William J.;
Wong, Lee‐Jun C.

Publication type:

Article

SURF1-associated leigh syndrome: A case series and novel mutations.

Published in:

Human Mutation, 2012, v. 33, n. 8, p. 1192, doi. 10.1002/humu.22095

By:

Lee, Inn-Chi;
El-Hattab, Ayman W.;
Wang, Jing;
Li, Fang-Yuan;
Weng, Shao-Wen;
Craigen, William J.;
Wong, Lee-Jun C.

Publication type:

Article

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 579, doi. 10.1002/humu.21406

By:

Häberle, Johannes;
Shchelochkov, Oleg A.;
Wang, Jing;
Katsonis, Panagiotis;
Hall, Lynn;
Reiss, Sara;
Eeds, Angela;
Willis, Alecia;
Yadav, Meeta;
Summar, Samantha;
Lichtarge, Olivier;
Rubio, Vicente;
Wong, Lee-Jun;
Summar, Marshall

Publication type:

Article

Molecular spectrum of SLC22A5 ( OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

Published in:

Human Mutation, 2010, v. 31, n. 8, p. E1632, doi. 10.1002/humu.21311

By:

Li, Fang-Yuan;
El-Hattab, Ayman W.;
Bawle, Erawati V.;
Boles, Richard G.;
Schmitt, Eric S.;
Scaglia, Fernando;
Wong, Lee-Jun

Publication type:

Article

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Published in:

Human Mutation, 2008, v. 29, n. 9, p. E150, doi. 10.1002/humu.20824

By:

Wong, Lee-Jun C.;
Naviaux, Robert K.;
Brunetti-Pierri, Nicola;
Zhang, Qing;
Schmitt, Eric S.;
Truong, Cavatina;
Milone, Margherita;
Cohen, Bruce H.;
Wical, Beverly;
Ganesh, Jaya;
Basinger, Alice A.;
Burton, Barbara K.;
Swoboda, Kathryn;
Gilbert, Donald L.;
Vanderver, Adeline;
Saneto, Russell P.;
Maranda, Bruno;
Arnold, Georgianne;
Abdenur, Jose E.;
Waters, Paula J.

Publication type:

Article

Erratum: Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.

Published in:

2005

By:

Alper, Özgül M.;
Wong, Lee-Jun C.;
Young, Suzanne;
Pearl, Michelle;
Graham, Steve;
Sherwin, John;
Nussbaum, Eliezer;
Nielson, Dennis;
Platzker, Arnold;
Davies, Zoe;
Lieberthal, Allan;
Chin, Terry;
Shay, Greg;
Hardy, Karen;
Kharrazi, Martin

Publication type:

Erratum

Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.

Published in:

Human Mutation, 2004, v. 24, n. 4, p. 353, doi. 10.1002/humu.9281

By:

Alper, Özgül M.;
Wong, Lee-Jun C.;
Young, Suzanne;
Pearl, Michelle;
Graham, Steve;
Sherwin, John;
Nussbaum, Eliezer;
Nielson, Dennis;
Platzker, Arnold;
Davies, Zoe;
Lieberthal, Allan;
Chin, Terry;
Shay, Greg;
Hardy, Karen;
Kharrazi, Martin

Publication type:

Article

Improved detection of CFTR mutations in southern California Hispanic CF patients.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 79, doi. 10.1002/humu.10030

By:

Wong, Lee-Jun C.;
Wang, Jianjun;
Zhang, Ying-Hua;
Hsu, Evelyn;
Heim, Ruth A.;
Bowman, C. Michael;
Woo, Marlyn S.

Publication type:

Article

Improved detection of CFTR mutations in Southern California Hispanic CF patients.

Published in:

Human Mutation, 2001, v. 18, n. 4, p. 296, doi. 10.1002/humu.1191

By:

Wong, Lee-Jun C.;
Wang, Jianjun;
Zhang, Ying-Hua;
Hsu, Evelyn;
Heim, Ruth A.;
Bowman, C. Michael;
Woo, Marlyn S.

Publication type:

Article

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.

Published in:

2017

By:

Jianying Xi;
Chong Yan;
Wei-Wei Liu;
Kai Qiao;
Jie Lin;
Xia Tian;
Hui Wu;
Jiahong Lu;
Lee-Jun Wong;
Beeson, David;
Chongbo Zhao;
Xi, Jianying;
Yan, Chong;
Liu, Wei-Wei;
Qiao, Kai;
Lin, Jie;
Tian, Xia;
Wu, Hui;
Lu, Jiahong;
Wong, Lee-Jun

Publication type:

Case Study

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

Published in:

BMC Cancer, 2006, v. 6, p. 1, doi. 10.1186/1471-2407-6-111

By:

Wong, Lee-Jun C;
Pu Dai;
Jyh-Feng Lu;
Lou, Mary Ann;
Clarke, Robert;
Nazarov, Viktor

Publication type:

Article

Crosstalk from Non-Cancerous Mitochondria Can Inhibit Tumor Properties of Metastatic Cells by Suppressing Oncogenic Pathways

Published in:

PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0061747

By:

Kaipparettu, Benny Abraham;
Ma, Yewei;
Park, Jun Hyoung;
Lee, Tin-Lap;
Zhang, Yiqun;
Yotnda, Patricia;
Creighton, Chad J.;
Chan, Wai-Yee;
Wong, Lee-Jun C.

Publication type:

Article

Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes.

Published in:

PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015687

By:

Sadikovic, Bekim;
Jing Wang;
El-Hattab, Ayman;
Landsverk, Megan;
Douglas, Ganka;
Brundage, Ellen K.;
Craigen, William J.;
Schmitt, Eric S.;
Wong, Lee-Jun C.

Publication type:

Article

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

Published in:

Muscle & Nerve, 2008, v. 37, n. 2, p. 150, doi. 10.1002/mus.20917

By:

Scaglia, Fernando;
Wong, Lee-Jun C.

Publication type:

Article

Pathogenic mitochondrial DNA mutations in protein-coding genes.

Published in:

2007

By:

Wong, Lee-Jun C.

Publication type:

journal article

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

Published in:

Cancer (0008543X), 2012, v. 118, n. 3, p. 711, doi. 10.1002/cncr.26321

By:

Sandulache, Vlad C.;
Skinner, Heath D.;
Ow, Thomas J.;
Zhang, Aijun;
Xia, Xuefeng;
Luchak, James M.;
Wong, Lee-Jun C.;
Pickering, Curtis R.;
Zhou, Ge;
Myers, Jeffrey N.

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 1996, v. 16, n. 2, p. 105, doi. 10.1002/(SICI)1097-0223(199602)16:2<105::AID-PD817>3.0.CO;2-K

By:

WONG, LEE-JUN C.

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2011, v. 56, n. 12, p. 834, doi. 10.1038/jhg.2011.112

By:

Douglas, Ganka V;
Wiszniewska, Joanna;
Lipson, Mark H;
Witt, David R;
McDowell, Taryn;
Sifry-Platt, Mara;
Hirano, Michio;
Craigen, William J;
Wong, Lee-Jun C

Publication type:

Article

Mitochondrial DNA variant interactions modify breast cancer risk.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 10, p. 924, doi. 10.1007/s10038-008-0331-x

By:

Covarrubias, Daniel;
Ren-Kui Bai;
Wong, Lee-Jun C.;
Leal, Suzanne M.

Publication type:

Article

Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.

Published in:

International Journal of Neuroscience, 2015, v. 125, n. 1, p. 43, doi. 10.3109/00207454.2014.904858

By:

Shaibani, Aziz;
Wong, Lee-Jun;
Wei Zhang, Victor;
Lewis, Richard Alan;
Shinawi, Marwan

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2500, doi. 10.1002/ajmg.a.38333

By:

Tsai, Anne Chun‐Hui;
Hung, Yu‐Wen;
Harding, Cary;
Koeller, David M.;
Wang, Jing;
Wong, Lee‐Jun C.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1642, doi. 10.1002/ajmg.a.36508

By:

Barboza‐Cerda, María C.;
Wong, Lee‐Jun;
Martínez‐de‐Villarreal, Laura E.;
Zhang, Victor Wei;
Déctor, Miguel A.

Publication type:

Article

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

Published in:

Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0137-3

By:

Hiniker, Annie;
Wong, Lee-Jun;
Berven, Sigurd;
Truong, Cavatina;
Adesina, Adekunle;
Margeta, Marta

Publication type:

Article

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes.

Published in:

2017

By:

Sadikovic, Bekim;
Wang, Jing;
El-Hattab, Ayman W.;
Landsverk, Megan;
Douglas, Ganka;
Brundage, Ellen K.;
Craigen, William J.;
Schmitt, Eric S.;
Wong, Lee-Jun C.

Publication type:

Correction Notice

Correction: Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

Published in:

2017

By:

Liang, Wen-Chen;
Tian, Xia;
Yuo, Chung-Yee;
Chen, Wan-Zi;
Kan, Tsu-Min;
Su, Yi-Ning;
Nishino, Ichizo;
Wong, Lee-Jun C.;
Jong, Yuh-Jyh

Publication type:

Correction Notice

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170517

By:

Liang, Wen-Chen;
Tian, Xia;
Yuo, Chung-Yee;
Chen, Wan-Zi;
Kan, Tsu-Min;
Su, Yi-Ning;
Nishino, Ichizo;
Wong, Lee-Jun C.;
Jong, Yuh-Jyh

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 63, doi. 10.1002/jmd2.12018

By:

Demirbas, Didem;
Harris, David J.;
Arn, Pamela H.;
Huang, Xiaoping;
Waisbren, Susan E.;
Anselm, Irina;
Lerner‐Ellis, Jordan P.;
Wong, Lee‐Jun;
Levy, Harvey L.;
Berry, Gerard T.

Publication type:

Article

Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.725259

By:

Ouyang, Xuejun;
Zhang, Yu;
Zhang, Lijuan;
Luo, Jixuan;
Zhang, Ting;
Hu, Hui;
Liu, Lin;
Zhong, Lieqiang;
Zeng, Shaoying;
Xu, Pingyi;
Bai, Zhenjiang;
Wong, Lee-Jun;
Wang, Jing;
Wang, Chunli;
Wang, Bin;
Zhang, Victor Wei

Publication type:

Article

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 3052, doi. 10.1093/hmg/ddr209

By:

Young, Matthew J.;
Longley, Matthew J.;
Li, Fang-Yuan;
Kasiviswanathan, Rajesh;
Wong, Lee-Jun;
Copeland, William C.

Publication type:

Article

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.

Published in:

2016

By:

Chen, Tai‐Heng;
Tian, Xia;
Kuo, Pao‐Lin;
Pan, Hui‐Ping;
Wong, Lee‐Jun C.;
Jong, Yuh‐Jyh

Publication type:

journal article

A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family.

Published in:

Prenatal Diagnosis, 2000, v. 20, n. 10, p. 807, doi. 10.1002/1097-0223(200010)20:10<807::AID-PD929>3.0.CO;2-A

By:

Wong, Lee-Jun C.;
Wang, Jianjun;
Woo, Marilyn;
Hsu, Evelyn;
Michael Bowman, C.

Publication type:

Article

Mutation Analysis By The Use of Temporal Temperature Gradient Gel Electrophoresis.

Published in:

Turkish Journal of Medical Sciences, 2005, v. 35, n. 5, p. 279

By:

Alper, Özgül M.;
Lülecý, Güven;
Wong, Lee-Jun C.

Publication type:

Article

First prenatal exclusion of cystic fibrosis in East Asia.

Published in:

Pediatrics International, 2007, v. 49, n. 5, p. 686, doi. 10.1111/j.1442-200X.2007.02437.x

By:

WONG, LEE-JUN C.;
MEI-HUI LEE;
MING CHEN;
ALPER, ÖZGÜL M.;
LONG-YEN TSAO;
BAO-TYAN WANG

Publication type:

Article

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

Published in:

2016

By:

Liewluck, Teerin;
Milone, Margherita;
Tian, Xia;
Engel, Andrew G.;
Staff, Nathan P.;
Wong, Lee‐Jun

Publication type:

journal article

Exercise intolerance due to cytochrome b mutation.

Published in:

Muscle & Nerve, 2010, v. 42, n. 1, p. 136, doi. 10.1002/mus.21649

By:

Massie, Rami;
Wong, Lee-Jun C.;
Milone, Margherita

Publication type:

Article

Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.

Published in:

Muscle & Nerve, 2009, v. 39, n. 3, p. 374, doi. 10.1002/mus.21157

By:

Shchelochkov, Oleg;
Wong, Lee-Jun;
Shaibani, Aziz;
Shinawi, Marwan

Publication type:

Article

Antimicrobial mitochondrial reactive oxygen species induction by lung epithelial immunometabolic modulation.

Published in:

PLoS Pathogens, 2023, v. 19, n. 9, p. 1, doi. 10.1371/journal.ppat.1011138

By:

Wang, Yongxing;
Kulkarni, Vikram V.;
Pantaleón García, Jezreel;
Leiva-Juárez, Miguel M.;
Goldblatt, David L.;
Gulraiz, Fahad;
Vila Ellis, Lisandra;
Chen, Jichao;
Longmire, Michael K.;
Donepudi, Sri Ramya;
Lorenzi, Philip L.;
Wang, Hao;
Wong, Lee-Jun;
Tuvim, Michael J.;
Evans, Scott E.

Publication type:

Article

Comprehensive One-Step Molecular Analyses of Mitochondrial Genome by Massively Parallel Sequencing.

Published in:

Clinical Chemistry, 2012, v. 58, n. 9, p. 1322, doi. 10.1373/clinchem.2011.181438

By:

Wei Zhang;
Hong Cui;
Wong, Lee-Jun C.

Publication type:

Article

Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome.

Published in:

Clinical Chemistry, 2010, v. 56, n. 7, p. 1119, doi. 10.1373/clinchem.2009.141549

By:

Dimmock, David;
Tang, Lin-Ya;
Schmitt, Eric S.;
Wong, Lee-Jun C.

Publication type:

Article

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

Published in:

PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0165405

By:

Wang, Xia;
Feng, Yanming;
Li, Jianli;
Zhang, Wei;
Wang, Jing;
Lewis, Richard A.;
Wong, Lee-Jun

Publication type:

Article

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.

Published in:

2020

By:

Liang, Wen-Chen;
Jong, Yuh-Jyh;
Wang, Chien-Hua;
Wang, Chen-Hua;
Tian, Xia;
Chen, Wan-Zi;
Kan, Tzu-Min;
Minami, Narihiro;
Nishino, Ichizo;
Wong, Lee-Jun C.

Publication type:

journal article

Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.

Published in:

BMC Pediatrics, 2002, v. 2, p. 12, doi. 10.1186/1471-2431-2-12

By:

Scaglia, Fernando;
Scheuerle, Angela E.;
Towbin, Jeffrey A.;
Armstrong, Dawna L.;
Sweetman, Lawrence;
Wong, Lee-Jun C.

Publication type:

Article

Multilocus Analysis of Hypertension: A Hierarchical Approach.

Published in:

Human Heredity, 2004, v. 57, n. 1, p. 28, doi. 10.1159/000077387

By:

Williams, Scott M.;
Ritchie, Marylyn D.;
Phillips III, John A.;
Dawson, Elliot;
Prince, Melissa;
Dzhura, Elvira;
Willis, Alecia;
Semenya, Amma;
Summar, Marshall;
White, Bill C.;
Addy, Jonathan H.;
Kpodonu, John;
Wong, Lee-Jun;
Felder, Robin A.;
Jose, Pedro A.;
Moore, Jason H.

Publication type:

Article

A novel Dral polymorphism in the 3' untranslated region of human glucose-6-phosphatase gene: useful for carrier detection and prenatal diagnosis of glycogen storage disease type 1a.

Published in:

Clinical Genetics, 1998, v. 53, n. 6, p. 502, doi. 10.1111/j.1399-0004.1998.tb02604.x

By:

Lam, Ching-Wan;
üang, Min-Hui;
Pang, Chi-Pui;
Tong, Sui-Fan;
Wong, Lee-Jun C.

Publication type:

Article

Correction: Crosstalk from Non-Cancerous Mitochondria Can Inhibit Tumor Properties of Metastatic Cells by Suppressing Oncogenic Pathways.

Published in:

PLoS ONE, 2019, v. 14, n. 8, p. 1, doi. 10.1371/journal.pone.0221671

By:

Kaipparettu, Benny Abraham;
Ma, Yewei;
Park, Jun Hyoung;
Lee, Tin-Lap;
Zhang, Yiqun;
Yotnda, Patricia;
Creighton, Chad J.;
Chan, Wai-Yee;
Wong, Lee-Jun C.

Publication type:

Article

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

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1201, n. 1, p. 137, doi. 10.1111/j.1749-6632.2010.05621.x

By:

Kaipparettu, Benny Abraham;
Ma, Yewei;
Wong, Lee‐Jun C.

Publication type:

Article

Hearing Loss in Mitochondrial Disorders.

Published in:

Annals of the New York Academy of Sciences, 2005, v. 1042, n. 1, p. 36, doi. 10.1196/annals.1338.004

By:

HSU, CHANG‐HUNG;
KWON, HAEYOUNG;
PERNG, CHERNG‐LIH;
BAI, REN‐KUI;
DAI, PU;
WONG, LEE‐JUN C.

Publication type:

Article