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Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder MA, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. Williams KB, et al. Among authors: poskitt l. Hum Mol Genet. 2019 Feb 15;28(4):525-538. doi: 10.1093/hmg/ddy344. Hum Mol Genet. 2019. PMID: 30304524 Free PMC article.
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Strauss KA, Williams KB, Carson VJ, Poskitt L, Bowser LE, Young M, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Hailey J, Chopko S, Puffenberger EG, Brigatti KW, Miller F, Morton DH. Strauss KA, et al. Among authors: poskitt l. Mol Genet Metab. 2020 Nov;131(3):325-340. doi: 10.1016/j.ymgme.2020.09.007. Epub 2020 Oct 4. Mol Genet Metab. 2020. PMID: 33069577 Free article.
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R. Scala M, et al. Among authors: poskitt l. Brain. 2020 Apr 1;143(4):e31. doi: 10.1093/brain/awaa070. Brain. 2020. PMID: 32227164 Free PMC article. No abstract available.
'Dermatitis neglecta': unwashed dermatosis.
Poskitt L, Wayte J, Wojnarowska F, Wilkinson JD. Poskitt L, et al. Br J Dermatol. 1995 May;132(5):827-9. Br J Dermatol. 1995. PMID: 7772495 No abstract available.
Natural history of keratosis pilaris.
Poskitt L, Wilkinson JD. Poskitt L, et al. Br J Dermatol. 1994 Jun;130(6):711-3. doi: 10.1111/j.1365-2133.1994.tb03406.x. Br J Dermatol. 1994. PMID: 8011494
14 results