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Intellectual disability is associated with increased runs of homozygosity in simplex autism.
Gamsiz ED, Viscidi EW, Frederick AM, Nagpal S, Sanders SJ, Murtha MT, Schmidt M; Simons Simplex Collection Genetics Consortium; Triche EW, Geschwind DH, State MW, Istrail S, Cook EH Jr, Devlin B, Morrow EM. Gamsiz ED, et al. Among authors: nagpal s. Am J Hum Genet. 2013 Jul 11;93(1):103-9. doi: 10.1016/j.ajhg.2013.06.004. Epub 2013 Jul 3. Am J Hum Genet. 2013. PMID: 23830515 Free PMC article.
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
Ouyang Q, Nakayama T, Baytas O, Davidson SM, Yang C, Schmidt M, Lizarraga SB, Mishra S, Ei-Quessny M, Niaz S, Gul Butt M, Imran Murtaza S, Javed A, Chaudhry HR, Vaughan DJ, Hill RS, Partlow JN, Yoo SY, Lam AT, Nasir R, Al-Saffar M, Barkovich AJ, Schwede M, Nagpal S, Rajab A, DeBerardinis RJ, Housman DE, Mochida GH, Morrow EM. Ouyang Q, et al. Among authors: nagpal s. Proc Natl Acad Sci U S A. 2016 Sep 20;113(38):E5598-607. doi: 10.1073/pnas.1609221113. Epub 2016 Sep 6. Proc Natl Acad Sci U S A. 2016. PMID: 27601654 Free PMC article.
522 results