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Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilić K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD. Sass JO, et al. Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22. Mol Genet Metab. 2016. PMID: 27477828
FLAGS, frequently mutated genes in public exomes.
Shyr C, Tarailo-Graovac M, Gottlieb M, Lee JJ, van Karnebeek C, Wasserman WW. Shyr C, et al. BMC Med Genomics. 2014 Dec 3;7:64. doi: 10.1186/s12920-014-0064-y. BMC Med Genomics. 2014. PMID: 25466818 Free PMC article.
The genotypic and phenotypic spectrum of PIGA deficiency.
Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek CD. Tarailo-Graovac M, et al. Orphanet J Rare Dis. 2015 Feb 27;10:23. doi: 10.1186/s13023-015-0243-8. Orphanet J Rare Dis. 2015. PMID: 25885527 Free PMC article.
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
Sirrs S, van Karnebeek CD, Peng X, Shyr C, Tarailo-Graovac M, Mandal R, Testa D, Dubin D, Carbonetti G, Glynn SE, Sayson B, Robinson WP, Han B, Wishart D, Ross CJ, Wasserman WW, Hurwitz TA, Sinclair G, Kaczocha M. Sirrs S, et al. Orphanet J Rare Dis. 2015 Mar 28;10:38. doi: 10.1186/s13023-015-0248-3. Orphanet J Rare Dis. 2015. PMID: 25885783 Free PMC article.
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD; Care4Rare Canada Consortium; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Ren D, Yoon G. Stray-Pedersen A, et al. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17. Am J Hum Genet. 2016. PMID: 26708751 Free PMC article.
76 results