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Items: 1 to 20 of 25

1.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.

Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

PMID:
29100083
2.

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.

Jouan L, Ouled Amar Bencheikh B, Daoud H, Dionne-Laporte A, Dobrzeniecka S, Spiegelman D, Rochefort D, Hince P, Szuto A, Lassonde M, Barbelanne M, Tsang WY, Dion PA, Théoret H, Rouleau GA.

Eur J Hum Genet. 2016 Apr;24(4):607-10. doi: 10.1038/ejhg.2015.156. Epub 2015 Jul 22.

3.

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

Capo-Chichi JM, Boissel S, Brustein E, Pickles S, Fallet-Bianco C, Nassif C, Patry L, Dobrzeniecka S, Liao M, Labuda D, Samuels ME, Hamdan FF, Vande Velde C, Rouleau GA, Drapeau P, Michaud JL.

J Med Genet. 2015 May;52(5):303-11. doi: 10.1136/jmedgenet-2014-102952. Epub 2015 Feb 3.

PMID:
25650066
4.

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

Tucker T, Zahir FR, Griffith M, Delaney A, Chai D, Tsang E, Lemyre E, Dobrzeniecka S, Marra M, Eydoux P, Langlois S, Hamdan FF, Michaud JL, Friedman JM.

Eur J Hum Genet. 2014 Jun;22(6):792-800. doi: 10.1038/ejhg.2013.248. Epub 2013 Nov 20.

5.

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.

Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013.

6.

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi JM, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, Michaud JL.

Am J Hum Genet. 2013 Oct 3;93(4):765-72. doi: 10.1016/j.ajhg.2013.08.014. Epub 2013 Sep 26. Erratum in: Am J Hum Genet. 2013 Nov 7;93(5):994.

7.

SYNE1 mutations in autosomal recessive cerebellar ataxia.

Noreau A, Bourassa CV, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, Forlani S, Durr A, Anheim M, Stevanin G, Brice A, Bouchard JP, Dion PA, Dupré N, Rouleau GA.

JAMA Neurol. 2013 Oct;70(10):1296-31.

PMID:
23959263
8.

Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.

Capo-Chichi JM, Tcherkezian J, Hamdan FF, Décarie JC, Dobrzeniecka S, Patry L, Nadon MA, Mucha BE, Major P, Shevell M, Bencheikh BO, Joober R, Samuels ME, Rouleau GA, Roux PP, Michaud JL.

J Med Genet. 2013 Nov;50(11):740-4. doi: 10.1136/jmedgenet-2013-101680. Epub 2013 May 17.

PMID:
23687350
9.

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.

Jouan L, Girard SL, Dobrzeniecka S, Ambalavanan A, Krebs MO, Joober R, Gauthier J, Dion PA, Rouleau GA.

Behav Brain Funct. 2013 Feb 20;9:9. doi: 10.1186/1744-9081-9-9.

10.

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.

Piton A, Jouan L, Rochefort D, Dobrzeniecka S, Lachapelle K, Dion PA, Gauthier J, Rouleau GA.

Eur J Hum Genet. 2013 Jul;21(7):749-56. doi: 10.1038/ejhg.2012.243. Epub 2012 Nov 21.

11.

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G.

Hum Mutat. 2013 Feb;34(2):385-94. doi: 10.1002/humu.22248. Epub 2012 Dec 12.

PMID:
23161826
12.

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

Daoud H, Dobrzeniecka S, Camu W, Meininger V, Dupré N, Dion PA, Rouleau GA.

Neurobiol Aging. 2013 Apr;34(4):1311.e1-2. doi: 10.1016/j.neurobiolaging.2012.09.001. Epub 2012 Oct 10.

PMID:
23062600
13.

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium, Rouleau GA, Majewski J, Michaud JL.

J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25.

PMID:
23012439
14.

Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability.

Hamdan FF, Daoud H, Patry L, Dionne-Laporte A, Spiegelman D, Dobrzeniecka S, Rouleau GA, Michaud JL.

Clin Genet. 2013 Feb;83(2):198-200. doi: 10.1111/j.1399-0004.2012.01890.x. Epub 2012 Jun 4. No abstract available.

PMID:
22670824
15.

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V; FORGE Canada Consortium, Maranda B, Rouleau GA, Majewski J, Michaud JL.

Am J Hum Genet. 2012 Apr 6;90(4):693-700. doi: 10.1016/j.ajhg.2012.02.011. Epub 2012 Mar 15.

16.

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.

Hamdan FF, Saitsu H, Nishiyama K, Gauthier J, Dobrzeniecka S, Spiegelman D, Lacaille JC, Décarie JC, Matsumoto N, Rouleau GA, Michaud JL.

Eur J Hum Genet. 2012 Jul;20(7):796-800. doi: 10.1038/ejhg.2011.271. Epub 2012 Jan 18.

17.

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.

Am J Hum Genet. 2011 Mar 11;88(3):306-16. doi: 10.1016/j.ajhg.2011.02.001. Epub 2011 Mar 3. Erratum in: Am J Hum Genet. 2011 Apr 8;88(4):516.

18.

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.

Eur J Hum Genet. 2011 May;19(5):607-9. doi: 10.1038/ejhg.2010.183. Epub 2011 Mar 2.

19.

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.

Biol Psychiatry. 2011 May 1;69(9):898-901. doi: 10.1016/j.biopsych.2010.11.015. Epub 2011 Jan 15.

PMID:
21237447
20.

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

Tarabeux J, Kebir O, Gauthier J, Hamdan FF, Xiong L, Piton A, Spiegelman D, Henrion É, Millet B; S2D team, Fathalli F, Joober R, Rapoport JL, DeLisi LE, Fombonne É, Mottron L, Forget-Dubois N, Boivin M, Michaud JL, Drapeau P, Lafrenière RG, Rouleau GA, Krebs MO.

Transl Psychiatry. 2011 Nov 15;1:e55. doi: 10.1038/tp.2011.52.

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