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Lessons from whole-exome sequencing in MODYX families.
Dusatkova P, Fang M, Pruhova S, Gjesing AP, Cinek O, Hansen T, Pedersen OB, Xu X, Lebl J. Dusatkova P, et al. Among authors: fang m. Diabetes Res Clin Pract. 2014 Jun;104(3):e72-4. doi: 10.1016/j.diabres.2014.03.008. Epub 2014 Mar 19. Diabetes Res Clin Pract. 2014. PMID: 24698406
The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.
Cheng S, Xu Z, Bian S, Chen X, Shi Y, Li Y, Duan Y, Liu Y, Lin J, Jiang Y, Jing J, Li Z, Wang Y, Meng X, Liu Y, Fang M, Jin X, Xu X, Wang J, Wang C, Li H, Liu S, Wang Y. Cheng S, et al. Among authors: fang m. Cell Discov. 2023 Jul 21;9(1):75. doi: 10.1038/s41421-023-00582-8. Cell Discov. 2023. PMID: 37479695 Free PMC article.
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J, Ghezzi D. Lamperti C, et al. Among authors: fang m. Mol Genet Metab. 2012 Nov;107(3):403-8. doi: 10.1016/j.ymgme.2012.08.020. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23010432 Free PMC article.
Mutations in ABCB6 cause dyschromatosis universalis hereditaria.
Zhang C, Li D, Zhang J, Chen X, Huang M, Archacki S, Tian Y, Ren W, Mei A, Zhang Q, Fang M, Su Z, Yin Y, Liu D, Chen Y, Cui X, Li C, Yang H, Wang Q, Wang J, Liu M, Deng Y. Zhang C, et al. Among authors: fang m. J Invest Dermatol. 2013 Sep;133(9):2221-8. doi: 10.1038/jid.2013.145. Epub 2013 Mar 21. J Invest Dermatol. 2013. PMID: 23519333 Free article.
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
Melchionda L, Fang M, Wang H, Fugnanesi V, Morbin M, Liu X, Li W, Ceccherini I, Farina L, Savoiardo M, D'Adamo P, Zhang J, Costa A, Ravaglia S, Ghezzi D, Zeviani M. Melchionda L, et al. Among authors: fang m. Orphanet J Rare Dis. 2013 May 1;8:66. doi: 10.1186/1750-1172-8-66. Orphanet J Rare Dis. 2013. PMID: 23634874 Free PMC article.
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
Robusto M, Fang M, Asselta R, Castorina P, Previtali SC, Caccia S, Benzoni E, De Cristofaro R, Yu C, Cesarani A, Liu X, Li W, Primignani P, Ambrosetti U, Xu X, Duga S, Soldà G. Robusto M, et al. Among authors: fang m. Eur J Hum Genet. 2015 Jun;23(6):766-73. doi: 10.1038/ejhg.2014.168. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182139 Free PMC article.
4,011 results