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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: schmidt m. 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.
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM. Pescosolido MF, et al. Among authors: schmidt m. Ann Neurol. 2014 Oct;76(4):581-93. doi: 10.1002/ana.24225. Epub 2014 Sep 19. Ann Neurol. 2014. PMID: 25044251 Free PMC article.
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.
Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM. Pescosolido MF, et al. Among authors: schmidt m. J Med Genet. 2014 Sep;51(9):587-9. doi: 10.1136/jmedgenet-2014-102444. Epub 2014 Jul 23. J Med Genet. 2014. PMID: 25057125 Free PMC article. No abstract available.
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: schmidt m. 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.
Complex Neurological Phenotype in Female Carriers of NHE6 Mutations.
Pescosolido MF, Kavanaugh BC, Pochet N, Schmidt M, Jerskey BA, Rogg JM, De Jager PL, Young-Pearse TL, Liu JS, Morrow EM. Pescosolido MF, et al. Among authors: schmidt m. Mol Neuropsychiatry. 2019 Apr;5(2):98-108. doi: 10.1159/000496341. Epub 2019 Mar 6. Mol Neuropsychiatry. 2019. PMID: 31192222 Free PMC article.
10,031 results
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