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Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB. Ruzzo EK, et al. Among authors: rouleau ga. Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013. Neuron. 2013. PMID: 24139043 Free PMC article.
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L, Champagne N, Lafrenière RG, Hamdan FF; S2D team; Joober R, Fombonne E, Marineau C, Cossette P, Dubé MP, Haghighi P, Drapeau P, Barker PA, Carbonetto S, Rouleau GA. Piton A, et al. Among authors: rouleau ga. Hum Mol Genet. 2008 Dec 15;17(24):3965-74. doi: 10.1093/hmg/ddn300. Epub 2008 Sep 18. Hum Mol Genet. 2008. PMID: 18801879
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Côté M, Perreau-Linck E, Carmant L, D'Anjou G, Fombonne E, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Mouaffak F, Joober R, Mottron L, Drapeau P, Marineau C, Lafrenière RG, Lacaille JC, Rouleau GA, Michaud JL; Synapse to Disease Group. Hamdan FF, et al. Among authors: rouleau ga. N Engl J Med. 2009 Feb 5;360(6):599-605. doi: 10.1056/NEJMoa0805392. N Engl J Med. 2009. PMID: 19196676 Free PMC article.
No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.
Hamdan FF, Gauthier J, Pellerin S, Dobrzeniecka S, Marineau C, Fombonne E, Mottron L, Lafrenière RG, Drapeau P, Lacaille JC, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: rouleau ga. Arch Neurol. 2009 May;66(5):675-6. doi: 10.1001/archneurol.2009.65. Arch Neurol. 2009. PMID: 19433673 No abstract available.
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
Hamdan FF, Piton A, Gauthier J, Lortie A, Dubeau F, Dobrzeniecka S, Spiegelman D, Noreau A, Pellerin S, Côté M, Henrion E, Fombonne E, Mottron L, Marineau C, Drapeau P, Lafrenière RG, Lacaille JC, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: rouleau ga. Ann Neurol. 2009 Jun;65(6):748-53. doi: 10.1002/ana.21625. Ann Neurol. 2009. PMID: 19557857
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.
Hamdan FF, Daoud H, Rochefort D, Piton A, Gauthier J, Langlois M, Foomani G, Dobrzeniecka S, Krebs MO, Joober R, Lafrenière RG, Lacaille JC, Mottron L, Drapeau P, Beauchamp MH, Phillips MS, Fombonne E, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: rouleau ga. Am J Hum Genet. 2010 Nov 12;87(5):671-8. doi: 10.1016/j.ajhg.2010.09.017. Epub 2010 Oct 14. Am J Hum Genet. 2010. PMID: 20950788 Free PMC article.
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, Joober R, Lacaille JC, Nadeau A, Milunsky JM, Wang Z, Carmant L, Mottron L, Beauchamp MH, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: rouleau ga. Biol Psychiatry. 2011 May 1;69(9):898-901. doi: 10.1016/j.biopsych.2010.11.015. Epub 2011 Jan 15. Biol Psychiatry. 2011. PMID: 21237447
Intellectual disability without epilepsy associated with STXBP1 disruption.
Hamdan FF, Gauthier J, Dobrzeniecka S, Lortie A, Mottron L, Vanasse M, D'Anjou G, Lacaille JC, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: rouleau ga. Eur J Hum Genet. 2011 May;19(5):607-9. doi: 10.1038/ejhg.2010.183. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364700 Free PMC article.
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O; S2D Group; Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafrenière RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: rouleau ga. Am J Hum Genet. 2011 Mar 11;88(3):306-16. doi: 10.1016/j.ajhg.2011.02.001. Epub 2011 Mar 3. Am J Hum Genet. 2011. PMID: 21376300 Free PMC article.
805 results