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Somatic mosaicism reveals clonal distributions of neocortical development.
Breuss MW, Yang X, Schlachetzki JCM, Antaki D, Lana AJ, Xu X, Chung C, Chai G, Stanley V, Song Q, Newmeyer TF, Nguyen A, O'Brien S, Hoeksema MA, Cao B, Nott A, McEvoy-Venneri J, Pasillas MP, Barton ST, Copeland BR, Nahas S, Van Der Kraan L, Ding Y; NIMH Brain Somatic Mosaicism Network; Glass CK, Gleeson JG. Breuss MW, et al. Among authors: gleeson jg. Nature. 2022 Apr;604(7907):689-696. doi: 10.1038/s41586-022-04602-7. Epub 2022 Apr 20. Nature. 2022. PMID: 35444276 Free PMC article.
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG. Breuss MW, et al. Among authors: gleeson jg. Am J Hum Genet. 2016 Jul 7;99(1):228-35. doi: 10.1016/j.ajhg.2016.05.023. Am J Hum Genet. 2016. PMID: 27392077 Free PMC article.
When size matters: CHD8 in autism.
Breuss MW, Gleeson JG. Breuss MW, et al. Among authors: gleeson jg. Nat Neurosci. 2016 Oct 26;19(11):1430-1432. doi: 10.1038/nn.4431. Nat Neurosci. 2016. PMID: 27786184 No abstract available.
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG. Breuss MW, et al. Among authors: gleeson jg. Hum Mol Genet. 2017 Jan 15;26(2):258-269. doi: 10.1093/hmg/ddw383. Hum Mol Genet. 2017. PMID: 28013290 Free PMC article.
321 results