Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects
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.
Published in Human mutation (01.06.2013)
Published in Human mutation (01.06.2013)
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Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease
Van Hove, Johan L.K., Cunningham, Vicki, Rice, Cathlin, Ringel, Steven P., Zhang, Qing, Chou, Ping-Chieh, Truong, Cavatina K., Wong, Lee-Jun C.
Published in American journal of medical genetics. Part A (01.05.2009)
Published in American journal of medical genetics. Part A (01.05.2009)
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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
Cui, Hong, Li, Fangyuan, Chen, David, Wang, Guoli, Truong, Cavatina K, Enns, Gregory M, Graham, Brett, Milone, Margherita, Landsverk, Megan L, Wang, Jing, Zhang, Wei, Wong, Lee-Jun C
Published in Genetics in medicine (01.05.2013)
Published in Genetics in medicine (01.05.2013)
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Alpers syndrome with prominent white matter changes
Bao, Xinhua, Wu, Ye, Wong, Lee-Jun C, Zhang, Yuehua, Xiong, Hui, Chou, Ping-Chieh, Truong, Cavatina K, Jiang, Yuwu, Qin, Jiong, Yuan, Yun, Lin, Qing, Wu, Xiru
Published in Brain & development (Tokyo. 1979) (01.04.2008)
Published in Brain & development (Tokyo. 1979) (01.04.2008)
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Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
Wong, Lee‐Jun C., Brunetti‐Pierri, Nicola, Zhang, Qing, Yazigi, Nada, Bove, Kevin E., Dahms, Beverly B., Puchowicz, Michelle A., Gonzalez‐Gomez, Ignacio, Schmitt, Eric S., Truong, Cavatina K., Hoppel, Charles L., Chou, Ping‐Chieh, Wang, Jing, Baldwin, Erin E., Adams, Darius, Leslie, Nancy, Boles, Richard G., Kerr, Douglas S., Craigen, William J.
Published in Hepatology (Baltimore, Md.) (01.10.2007)
Published in Hepatology (Baltimore, Md.) (01.10.2007)
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Mutations in theMPV17 gene are responsible for rapidly progressive liver failure in infancy
Wong, Lee-Jun C., Brunetti-Pierri, Nicola, Zhang, Qing, Yazigi, Nada, Bove, Kevin E., Dahms, Beverly B., Puchowicz, Michelle A., Gonzalez-Gomez, Ignacio, Schmitt, Eric S., Truong, Cavatina K., Hoppel, Charles L., Chou, Ping-Chieh, Wang, Jing, Baldwin, Erin E., Adams, Darius, Leslie, Nancy, Boles, Richard G., Kerr, Douglas S., Craigen, William J.
Published in Hepatology (Baltimore, Md.) (01.10.2007)
Published in Hepatology (Baltimore, Md.) (01.10.2007)
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Lessons learned from the analyses of 1500 mitochondrial genomes by NGS
Zhang, Victor Wei, Li, Fangyuan, Wang, Guoli, Truong, Cavatina K., Yu, Hui, Chen, David, Cui, Hong, Tian, Xia, Wang, Hao, Landsverk, Megan, Wang, Jing, Wong, Lee-Jun
Published in Mitochondrion (01.11.2013)
Published in Mitochondrion (01.11.2013)
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First tier molecular diagnosis of mitochondrial disorders — The experience of a mitochondrial diagnostic laboratory pre‐NextGen era
Tang, Sha, Wang, Jing, Li, Fangyuan, Zhang, Victor Wei, Landsverk, Megan, Cui, Hong, Truong, Cavatina K., Wang, Guoli, Schmitt, Eric S., Craigen, William J., Wong, Lee-Jun C.
Published in Mitochondrion (01.09.2012)
Published in Mitochondrion (01.09.2012)
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