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Whole-exome sequencing for variant discovery in blepharospasm.
Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzińska-Bar M, Wszolek ZK, Kennelly KD, Uitti RJ, van Gerpen JA, Hedera P, Trimble EJ, LeDoux MS. Tian J, et al. Mol Genet Genomic Med. 2018 May 16;6(4):601-26. doi: 10.1002/mgg3.411. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29770609 Free PMC article.
Consequences of Cre-mediated deletion of Ciz1 exon 5 in mice.
Xiao J, Khan MM, Vemula S, Tian J, LeDoux MS. Xiao J, et al. Among authors: tian j. FEBS Lett. 2018 Sep;592(18):3101-3110. doi: 10.1002/1873-3468.13221. Epub 2018 Aug 29. FEBS Lett. 2018. PMID: 30098009 Free PMC article.
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group; LeDoux MS. Toro C, et al. Among authors: tian j. Hum Mol Genet. 2018 Feb 15;27(4):691-705. doi: 10.1093/hmg/ddx435. Hum Mol Genet. 2018. PMID: 29300972 Free PMC article.
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group; LeDoux MS. Toro C, et al. Among authors: tian j. Hum Mol Genet. 2018 Apr 1;27(7):1310. doi: 10.1093/hmg/ddy049. Hum Mol Genet. 2018. PMID: 29447355 Free PMC article. No abstract available.
Impact of Oligoether Side-Chain Length on the Thermoelectric Properties of a Polar Polythiophene.
Craighero M, Guo J, Zokaei S, Griggs S, Tian J, Asatryan J, Kimpel J, Kroon R, Xu K, Reparaz JS, Martín J, McCulloch I, Campoy-Quiles M, Müller C. Craighero M, et al. Among authors: tian j. ACS Appl Electron Mater. 2023 Sep 15;6(5):2909-2916. doi: 10.1021/acsaelm.3c00936. eCollection 2024 May 28. ACS Appl Electron Mater. 2023. PMID: 38828039 Free PMC article. Review.
Cecal bascule presenting as internal hernia.
Tian J, English H, Bhatia S, Mourad Y, Louis MA, Khan N. Tian J, et al. J Surg Case Rep. 2024 May 31;2024(5):rjae366. doi: 10.1093/jscr/rjae366. eCollection 2024 May. J Surg Case Rep. 2024. PMID: 38826857 Free PMC article.
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