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332 results

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Page 1
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le Caignec C, Prontera P, Raas-Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker SF, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, Fagerberg CR. Allanson J, et al. Among authors: boycott k. Am J Med Genet A. 2012 Sep;158A(9):2091-9. doi: 10.1002/ajmg.a.35446. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821852
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium; Majewski J, Bulman DE, White SM, Boycott KM. Hood RL, et al. Among authors: boycott km. Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265015 Free PMC article.
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D; FORGE Canada Consortium; Majewski J, Bulman DE, Wieczorek D, Boycott KM. Lines MA, et al. Am J Hum Genet. 2012 Feb 10;90(2):369-77. doi: 10.1016/j.ajhg.2011.12.023. Epub 2012 Feb 2. Am J Hum Genet. 2012. PMID: 22305528 Free PMC article.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. Rivière JB, et al. Among authors: boycott km. Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331. Nat Genet. 2012. PMID: 22729224 Free PMC article.
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium; Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM. McDonell LM, et al. Nat Genet. 2013 May;45(5):556-62. doi: 10.1038/ng.2602. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542699 Free PMC article.
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, da Cunha BS, Delaney LA, Destrée A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Héron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, Jacob CM, Kant SG, Kim CA, Kirk EP, Knoers NV, Lacombe D, Lee C, Lo IF, Lucas LS, Mari F, Mericq V, Moilanen JS, Møller ST, Moortgat S, Pilz DT, Pope K, Price S, Renieri A, Sá J, Schoots J, Silveira EL, Simon ME, Slavotinek A, Temple IK, van der Burgt I, de Vries BB, Weisfeld-Adams JD, Whiteford ML, Wierczorek D, Wit JM, Yee CF, Beaulieu CL; FORGE Canada Consortium; White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM. Nikkel SM, et al. Among authors: boycott km. Orphanet J Rare Dis. 2013 Apr 27;8:63. doi: 10.1186/1750-1172-8-63. Orphanet J Rare Dis. 2013. PMID: 23621943 Free PMC article.
Whole-exome sequencing expands the phenotype of Hunter syndrome.
Nikkel SM, Huang L, Lachman R, Beaulieu CL, Schwartzentruber J, Majewski J, Geraghty MT, Boycott KM; FORGE Canada Consortium. Nikkel SM, et al. Among authors: boycott km. Clin Genet. 2014 Aug;86(2):172-6. doi: 10.1111/cge.12236. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23844659
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
Dyment DA, Sell E, Vanstone MR, Smith AC, Garandeau D, Garcia V, Carpentier S, Le Trionnaire E, Sabourdy F, Beaulieu CL, Schwartzentruber JA, McMillan HJ; FORGE Canada Consortium; Majewski J, Bulman DE, Levade T, Boycott KM. Dyment DA, et al. Among authors: boycott km. Clin Genet. 2014 Dec;86(6):558-63. doi: 10.1111/cge.12307. Epub 2013 Nov 21. Clin Genet. 2014. PMID: 24164096
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM; FORGE Canada Consortium; Care4Rare Canada. Dyment DA, et al. Among authors: boycott km. Clin Genet. 2015 Jul;88(1):34-40. doi: 10.1111/cge.12464. Epub 2014 Aug 28. Clin Genet. 2015. PMID: 25046240
332 results