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Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Söll D, Walsh CA, Nabbout R. Zhang X, et al. Among authors: lam at. Am J Hum Genet. 2014 Apr 3;94(4):547-58. doi: 10.1016/j.ajhg.2014.03.003. Epub 2014 Mar 20. Am J Hum Genet. 2014. PMID: 24656866 Free PMC article.
Somatic mutations in cerebral cortical malformations.
Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Jamuar SS, et al. Among authors: lam at. N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432. N Engl J Med. 2014. PMID: 25140959 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: lam at. 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.
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH. Hills LB, et al. Among authors: lam at. Neurology. 2013 Oct 15;81(16):1378-86. doi: 10.1212/WNL.0b013e3182a841a3. Epub 2013 Sep 27. Neurology. 2013. PMID: 24078737 Free PMC article.
Nasal planum diseases in dogs.
Chan T, Lam ATH. Chan T, et al. Among authors: lam ath. Can Vet J. 2024 May;65(5):514-519. Can Vet J. 2024. PMID: 38694745 No abstract available.
Symmetric lupoid onychodystrophy (SLO).
Quilling LL, Lam ATH. Quilling LL, et al. Among authors: lam ath. Can Vet J. 2023 Sep;64(9):880-882. Can Vet J. 2023. PMID: 37663023 Free PMC article. No abstract available.
109 results