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The tale of two genes: from next-generation sequencing to phenotype.
Rohanizadegan M, Siddharath A, Retterer K, Hung C, Bodamer O. Rohanizadegan M, et al. Among authors: hung c. Cold Spring Harb Mol Case Stud. 2020 Apr 1;6(2):a004846. doi: 10.1101/mcs.a004846. Print 2020 Apr. Cold Spring Harb Mol Case Stud. 2020. PMID: 31969346 Free PMC article.
Transcobalamin II deficiency at birth.
Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Mühl A, Fowler B, Nexo E, Bodamer OA. Ratschmann R, et al. Among authors: hung c. Mol Genet Metab. 2009 Nov;98(3):285-8. doi: 10.1016/j.ymgme.2009.06.003. Epub 2009 Jun 6. Mol Genet Metab. 2009. PMID: 19581117
Laboratory and genetic evaluation of Gaucher disease.
Bodamer OA, Hung C. Bodamer OA, et al. Among authors: hung c. Wien Med Wochenschr. 2010 Dec;160(23-24):600-4. doi: 10.1007/s10354-010-0814-1. Epub 2010 Aug 16. Wien Med Wochenschr. 2010. PMID: 20714811 Review.
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: hung c. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW. Tuschl K, et al. Among authors: hung cy. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Nat Commun. 2016. PMID: 27231142 Free PMC article.
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.
Rohanizadegan M, Abdo SM, O'Donnell-Luria A, Mihalek I, Chen P, Sanders M, Leeman K, Cho M, Hung C, Bodamer O. Rohanizadegan M, et al. Among authors: hung c. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002147. doi: 10.1101/mcs.a002147. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 28802248 Free PMC article.
6,351 results