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Page 1
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: majewski j. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793
Mutations in WNT1 are a cause of osteogenesis imperfecta.
Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F. Fahiminiya S, et al. Among authors: majewski j. J Med Genet. 2013 May;50(5):345-8. doi: 10.1136/jmedgenet-2013-101567. Epub 2013 Feb 23. J Med Genet. 2013. PMID: 23434763
Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.
Liu H, Sawyer SL, Gos M, Grynspan D, Issa K, Ramphal R, Rotaru C; FORGE Canada Consortium; Majewski J, Boycott KM, Graham G, Bromwich M. Liu H, et al. Among authors: majewski j. Am J Med Genet A. 2015 Jun;167(6):1337-41. doi: 10.1002/ajmg.a.36969. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899773
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network,; Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE. Frosk P, et al. Among authors: majewski j. J Med Genet. 2017 Jul;54(7):490-501. doi: 10.1136/jmedgenet-2016-104296. Epub 2017 Mar 6. J Med Genet. 2017. PMID: 28264986 Free PMC article.
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, Boycott KM, Shoubridge EA, Mitchell JJ; Care4Rare Canada Consortium; Michaud JL, Majewski J. Tetreault M, et al. Among authors: majewski j. Hum Genet. 2015 Sep;134(9):981-91. doi: 10.1007/s00439-015-1577-y. Epub 2015 Jun 23. Hum Genet. 2015. PMID: 26099313
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, Khadija KA, Zaineddin S, Kamel H, Majewski J, Tropepe V. Ben-Omran T, et al. Among authors: majewski j. J Med Genet. 2015 Jun;52(6):381-90. doi: 10.1136/jmedgenet-2014-102707. Epub 2015 Apr 14. J Med Genet. 2015. PMID: 25873735
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME. Munns CF, et al. Among authors: majewski j. Am J Hum Genet. 2015 Jun 4;96(6):971-8. doi: 10.1016/j.ajhg.2015.04.017. Epub 2015 May 28. Am J Hum Genet. 2015. PMID: 26027496 Free PMC article.
536 results