Chercheur

Publications

The genetic landscape of infantile spasms - Michaud JL, Lachance M, Hamdan F, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E. The genetic landscape of infantile spasms. Hum Mol Genet 2014; (sous presse).

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes - Tucker T, Zahir F, Griffith M, Delaney A, Chai D, Tsang E, Lemyre E, Dobrzeniecka S, Marra MA, Eydoux P, Langlois S, Hamdan F, Michaud JL, Friedman JM. Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes. Eur J Hum Genet 2014; (sous presse).

Polymicrogyria with dysmorphic basal ganglia? Think tubulin! - Amrom D, Tanyalçin I, Verhelst H, Deconinck N, Brouhard G, Décarie JC, Vanderhasselt T, Das J, Hamdan F, Lissens W, Michaud JL, Jansen A. Polymicrogyria with dysmorphic basal ganglia? Think tubulin!. Clin Genet 2014; (sous presse).

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 F, Rouleau GA, Tremblay A, Michaud JL. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. Am J Hum Genet 2013; 93(4): 765-772.

Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly - Capo-Chichi JM, Tcherkezian J, Hamdan F, Décarie JC, Dobrzeniecka S, Patry L, Nadon MA, Mucha BE, Major P, Shevell MI, Ouled Amar Bencheikh B, Joober R, Samuels ME, Rouleau GA, Roux P, Michaud JL. Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. J Med Genet 2013; 50(11): 740-744.

Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability - Hamdan F, Daoud H, Patry L, Dionne-Laporte A, Spiegelman D, Dobrzeniecka S, Rouleau GA, Michaud JL. Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability. Clin Genet 2013; 83(2): 198-200.

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia - Samuels ME, Majewski J, Aljazaeri A, Fernandez I, Casals F, Patey N, Decaluwé H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 2013; 50(5): 324-329.

Mutations in PIK3R1 cause SHORT syndrome - Dyment DA, Smith A, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone CA, Beaulieu C, FORGE Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM, Friedman J, Michaud JL, Bernier F, Brudno M, Fernandez B, Knoppers B, Samuels ME, Scherer S. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet 2013; 93(1): 158-166.

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans - Casals F, Hodgkinson A, Hussin J, Idaghdour Y, Bruat V, de Malliard T, Grenier JC, Gbeha E, Hamdan F, Girard S, Spinella JF, Larivière M, Saillour V, Healy J, Fernandes I, Sinnett D, Michaud JL, Rouleau GA, Haddad E, Le Deist F, Awadalla P. Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. PLoS Genet 2013; 9(9): e1003815.

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis - Lynch DC, Dyment DA, Huang L, Nikkel SM, LaCombe D, Campeau P, Lee B, Bacino CA, Michaud JL, Bernier FP, FORGE Canada Consortium, Parboosingh J, Innes AM. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat 2013; 34(1): 97-102.

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development - Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan F, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Götz M, Robertson SP. Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet 2013; 45(11): 1300-1308.

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 F, 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 S, 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. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron 2013; 80(2): 429-441.

Identification and biochemical characterization of a novel mutation in DDX11 causing warsaw breakage syndrome - Capo-Chichi JM, Bharti SK, Sommers JA, Yammine T, Chouery E, Patry L, Rouleau GA, Samuels ME, Hamdan F, Michaud JL, Brosh Jr RM, Megarbane A, Kibar Z. Identification and biochemical characterization of a novel mutation in DDX11 causing warsaw breakage syndrome. Hum Mutat 2013; 34(1): 103-107.

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency - Berryer MH, Hamdan F, Klitten LL, Moller RS, Carmant L, Schwartzentruber JA, 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. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat 2013; 34(2): 385-394.

Risk of congenital heart defects is influenced by genetic variation in folate metabolism - Christensen KE, Zada YF, Rohlicek C, Andelfinger G, Michaud JL, Bigras JL, Richter A, Dubé MP, Rozen R. Risk of congenital heart defects is influenced by genetic variation in folate metabolism. Cardiol Young 2013; 23(1): 89–98.

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population - Srour M, Schwartzentruber JA, Hamdan F, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Shevell MI, Laframboise R, Desilets V, FORGE Canada Consortium, Maranda B, Rouleau GA, Majewski J, Michaud JL. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet 2012; 90(4): 693-700.

Mutations in TMEM231 cause Joubert syndrome in French Canadians - Srour M, Hamdan F, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Desilets 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. Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet 2012; 49(10): 636-641.

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy - Hamdan F, Saitsu H, Nishiyama K, Gauthier J, Dobrzeniecka S, Spiegelman D, Lacaille JC, Décarie JC, Matsumoto N, Rouleau GA, Michaud JL. Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. Eur J Hum Genet 2012; 20(7): 796-800.

SHANK1 deletions in males with autism spectrum disorder - Sato D, Lionel AC, Leblond C, Prasad A, Pinto D, Walker S, O'Connor I, Russell C, Drmic IE, Hamdan F, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, Leboyer M, Rastam M, Gillberg C, Lathrop M, Stavropoulos DJ, Anagnostou E, Weksberg R, Fombonne E, Zwaigenbaum L, Fernandez BA, Roberts W, Rappold G, Marshall C, Bourgeron T, Szatmari P, Scherer SW. SHANK1 deletions in males with autism spectrum disorder. Am J Hum Genet 2012; 90(5): 879-887.

Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus - Dombret C, Nguyen T, Schakman O, Michaud JL, Hardin-Pouzet H, Bertrand M, De Backer O. Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus. Hum Mol Genet 2012; 21(21): 4703-4717.

Homozygous deletion of Tenascin-R in a patient with intellectual disability - Dufresne D, Hamdan F, Rosenfeld JA, Torchia B, Rosenblatt B, Michaud JL, Srour M. Homozygous deletion of Tenascin-R in a patient with intellectual disability. J Med Genet 2012; 49(7): 451-454.

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype - D'Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Desilets V, Nizard S, Michaud JL, Lemyre E. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. Clin Genet 2012; 81(2): 128-141.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome - Bernier FP, Caluseriu O, Ng S, Schwartzentruber JA, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H, FORGE Canada Consortium, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh J, Boycott KM, Friedman J, Michaud JL, Bernier F, Brudno M, Fernandez B, Knoppers B, Samuels ME, Scherer S. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 2012; 90(5): 925-933.

Intellectual disability without epilepsy associated with STXPB1 disruption - Hamdan F, Gauthier J, Dobrzeniecka S, Lortie A, Mottron L, Vanasse M, D'Anjou G, Lacaille JC, Rouleau GA, Michaud JL. Intellectual disability without epilepsy associated with STXPB1 disruption. Eur J Hum Genet 2011; 19(5): 607-609.

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism - Hamdan F, 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. De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biol Psychiatry 2011; 69(9): 898-901.

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability - Hamdan F, 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 MI, Maranda B, Mitchell GA, 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. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet 2011; 88(3): 306-316.

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia - Gauthier J, Siddique T, Huashan P, Yokomaku D, Hamdan F, Champagne N, Lapointe M, Spiegelman D, Noreau A, Lafrenière RG, Fathalli F, Joober R, Krebs MO, Delisi LE, Mottron L, Fombonne E, Michaud JL, Drapeau P, Carbonetto S, Craig AM, Rouleau GA. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum Mutat 2011; 130(4): 563-573.

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome - Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout A, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore D, Samuels ME. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet 2011; 43(4): 360-364.

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome - Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H, FORGE Canada Consortium, Michaud JL, Samuels ME. Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Hum Mutat 2011; 32(10): 1114-1117.

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation - Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe BP, Delaney A, Eydoux P, Lam WL, Langlois S, Lemyre E, Marra MA, Qian H, Rouleau GA, Vincent D, Michaud JL, Friedman JM. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics 2011; 4: 25.

X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations - McCauley J, Masand N, McGowan R, Rajagopalan S, Hunter A, Michaud JL, Gibson K, Robertson J, Vaz F, Abbs S, Holden ST. X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. Am J Med Genet A 2011; 155A(10): 2370-2380.

The clinical spectrum of nodular heterotopias in children: report of 31 patients - Srour M, Rioux MF, Varga C, Lortie A, Major P, Robitaille Y, Décarie JC, Michaud JL, Carmant L. The clinical spectrum of nodular heterotopias in children: report of 31 patients. Epilepsia 2011; 52(4): 728-737.

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia - Tarabeux J, Kebir O, Gauthier J, Hamdan F, Xiong L, Piton A, Spiegelman D, Henrion E, Millet B, S2D team, Fathalli F, Joober R, Rapoport JL, Delisi LE, Fombonne E, Mottron L, Forget-Dubois N, Boivin M, Michaud JL, Drapeau P, Lafrenière RG, Rouleau GA, Krebs MO. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Mol Psychiatry 2011; e: 55.

Acquired myelinated nerve fibers in association with optic disk drusen - Duval R, Hammamji K, Aroichane M, Michaud JL, Ospina LH. Acquired myelinated nerve fibers in association with optic disk drusen. J AAPOS 2010; 14(6): 544-547.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome - McLarren KW, Severson TM, Du Souich P, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson T, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters P, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen M, Herman GE, Zhao Y, Moore R, Kelley RI, Jones S, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. Am J Hum Genet 2010; 87(6): 905-914.

Analysis of the SIM1 xontribution to polygenic obesity in the French population - Ghoussaini M, Stutzmann F, Couturier C, Vatin V, Durand E, Lecoeur C, Degraeve F, Heude B, Tauber M, Hercberg S, Levy-Marchal C, Tounian P, Weill J, Traurig M, Bogardus C, Baier LJ, Michaud JL, Froguel P, Meyre D. Analysis of the SIM1 xontribution to polygenic obesity in the French population. Obesity 2010; 18(8): 1670-1675.

[De novo mutations in SYNGAP1 associated with non-syndromic mental retardation] - Hamdan F, Gauthier J, Rouleau GA, Michaud JL. [De novo mutations in SYNGAP1 associated with non-syndromic mental retardation]. Méd Sci (Paris) 2010; 26(2): 133-135.

Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss - Seyrantepe V, Lema P, Caqueret A, Dridi L, Bel Hadj S, Carpentier S, Boucher F, Levade T, Carmant L, Gravel R, Hamel E, Vachon P, Di Cristo G, Michaud JL, Morales C, Pshezhetsky AV. Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss. PLoS Genet 2010; 6(9): pii: e1001118.

OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels - Huber C, Fradin M, Edouard T, Le Merrer M, Alanay Y, Da Silva DB, David A, Hamamy H, Van Hest L, Lund AM, Michaud JL, Oley C, Patel C, Rajab A, Skidmore D, Stewart H, Tauber M, Munnich A, Cormier-Daire V. OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. Hum Mutat 2010; 31(1): 20-26.

De novo truncating mutation in Kinesin 17 associated with schizophrenia - Tarabeux J, Champagne N, Brustein E, Hamdan F, Gauthier J, Lapointe M, Maios C, Piton A, Spiegelman BM, Henrion E, Synapse to Disease Team, Millet B, Rapoport JL, Delisi LE, Joober R, Fathalli F, Fombonne E, Mottron L, Forget-Dubois N, Boivin M, Michaud JL, Lafrenière RG, Drapeau P, Krebs MO, Rouleau GA. De novo truncating mutation in Kinesin 17 associated with schizophrenia. Biol Psychiatry 2010; 68(7): 649-656.

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4 - Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans S, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout A, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Am J Hum Genet 2010; 87(1): 40-51.

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment - Hamdan F, 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 M, Fombonne E, Rouleau GA, Michaud JL. De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet 2010; 87(5): 671-678.

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation - Hamdan F, 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. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med 2009; 360(6): 599-605.

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy - Hamdan F, 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. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Ann Neurol 2009; 65(6): 748-753.

No association between SRGAP3/MEGAP haploinsufficiency and mental retardation - Hamdan F, Gauthier J, Pellerin S, Dobrzeniecka S, Marineau C, Fombonne E, Mottron L, Lafrenière RG, Drapeau P, Lacaille JC, Rouleau GA, Michaud JL. No association between SRGAP3/MEGAP haploinsufficiency and mental retardation. Arch Neurol 2009; 66(5): 675-676.

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization - Friedman JM, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel CF, Chan S, Chai D, Delaney AD, Flibotte S, Gibson W, Langlois S, Lemyre E, Li H, Macleod P, Mathers J, Michaud JL, McGillivray B, Patel M, Qian HS, Rouleau GA, Van Allen M, Young S-L, Zahir F, Eydoux P, Marra D. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC Genomics 2009; 10: 526 (on line).

The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects - Christensen KE, Rohlicek C, Andelfinger G, Michaud JL, Bigras JL, Richter A, Mackenzie AM, Rozen R. The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. Hum Mutat 2009; 30(2): 212-220.

Impact of Sim1 gene dosage on the development of the paraventricular and supraoptic nuclei of the hypothalamus - Duplan S, Boucher F, Michaud JL. Impact of Sim1 gene dosage on the development of the paraventricular and supraoptic nuclei of the hypothalamus. Eur J Neurosci 2009; 30(12): 2239-2249.

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 F, S2D team, Joober R, Fombonne E, Marineau C, Cossette P, Dubé MP, Haghighi P, Drapeau P, Barker PA, Carbonetto S, Rouleau GA. Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Hum Mol Genet 2008; 17(24): 3965-3974.

Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage - Seyrantepe V, Canuel M, Carpentier S, Landry K, Durand S, Feng L, Zeng J, Caqueret A, Gravel R, Marchesini S, Zwingmann C, Michaud JL, Morales C, Levade T, Pshezhetsky AV. Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage. Hum Mol Genet 2008; 17(11): 1556-1568.

Cardiopathies congénitales - Bigras JL, Fournier A, Vobecky S, Fouron J-C, Michaud JL. Cardiopathies congénitales. Dans: Turgeon J, Bernard-Bonnin AC, Gervais P, Ovetchkine P, Gauthier M (eds). Dictionnaire de thérapeutique pédiatrique Weber, 2e édition. Boucherville. Gaëtan Morin, 2007; 231-244.

Laminar organization of the early developing anterior hypothalamus - Caqueret A, Boucher F, Michaud JL. Laminar organization of the early developing anterior hypothalamus. Dev Biol 2006; 298(1): 95-106.

Adenoviral-mediated modulation of Sim1 expression in the paraventricular nucleus affects food intake - Yang C, Gagnon D, Vachon P, Tremblay A, Levy E, Massie B, Michaud JL. Adenoviral-mediated modulation of Sim1 expression in the paraventricular nucleus affects food intake. J Neurosci 2006; 26(26): 7116-7120.

Obstetrical sonography: Watch the fetal hands! - Rypens FF, Dubois J, Garel L, Fournet JC, Michaud JL, Grignon A. Obstetrical sonography: Watch the fetal hands!. Radiographics 2006; 26(3): 811-29; discussion 830-831.

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus - Crow YJ, Hayward BE, Parma R, Robins P, Leitch A, Ali M, Black DN, Bokhoven HV, Brunner HG, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat Genet 2006; 38(8): 917-920.

Recurrent pancreatitis in mitochondrial cytopathy - Debray FG, Drouin E, Herzog D, Lortie A, Lambert MA, Garel L, Mitchell GA, Michaud JL. Recurrent pancreatitis in mitochondrial cytopathy. Am J Med Genet A 2006; 140A(21): 2330-2335 .

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations - Ou Z, Jarmuz M, Sparagana SP, Michaud JL, Décarie JC, Yatsenko SA, Nowakowska B, Furman P, Shaw CA, Shaffer LG, Lupski J, Chinault AC, Cheung SW, Stankiewicz P. Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum Genet 2006; 120(2): 227-237.

Population history and its impact on medical genetics in Quebec - Laberge AM, Michaud JL, Richter A, Lemyre E, Lambert MA, Brais B, Mitchell GA. Population history and its impact on medical genetics in Quebec. Clin Genet 2005; 68(4): 287-301.

Population history and its impact on medical genetics in Quebec - Laberge AM, Michaud JL, Richter A, Lemyre E, Lambert MA, Brais B, Mitchell GA. Population history and its impact on medical genetics in Quebec. Clin Genet 2005; 68(4): 287-301.

Looking for trouble: a Search for developmental defects of the hypothalamus - Caqueret A, Yang C, Duplan S, Boucher F, Michaud JL. Looking for trouble: a Search for developmental defects of the hypothalamus. Horm Res 2005; 64(5): 222-230 .

Sim1 and Sim2 are required for correct targeting of mammillary body axons - Marion JF, Yang C, Caqueret A, Boucher F, Michaud JL. Sim1 and Sim2 are required for correct targeting of mammillary body axons. Development 2005; 132(24): 5527-5537.

Regionalization of the anterior hypothalamus in the chick embryo - Caqueret A, Coumailleau P, Michaud JL. Regionalization of the anterior hypothalamus in the chick embryo. Dev Dynamics 2005; 233(2): 652-658.

Fat chance: genetic syndromes with obesity - Delrue M-A, Michaud JL. Fat chance: genetic syndromes with obesity. Clin Genet 2004; 66(2): 83-93.

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity - Senée V, Vattem KM, Delépine M, Rainbow L, Haton C, Lecoq A, Shaw N, Robert JJ, Rooman R, Diatloff-Zito C, Michaud JL, Bin-Abbas B, Taha D, Zabel B, Franceschini P, Topaloglu AK, Lathrop GM, Barrett TG, Nicolino M, Wek RC, Julier C. Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes 2004; 53(2): 1876-1883.

The developmental program of the paraventricular and supraoptic nuclei - Kawano H, Caqueret A, Michaud JL. The developmental program of the paraventricular and supraoptic nuclei. Topical Endocrinol 2004; 23: 2-5.

G protein-coupled receptor-dependent development of human frontal cortex - Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter DA, Inness AM, Voit T, Ross ME, Michaud JL, Descarie JC, Barkovich AJ, Walsh CA. G protein-coupled receptor-dependent development of human frontal cortex. Science 2004; 303(5666): 2033-2036.

Regulatory interaction between arylhydrocarbon receptor and SIM1, two basic helix-loop-helix PAS proteins involved in the control of food intake - Yang C, Boucher F, Tremblay A, Michaud JL. Regulatory interaction between arylhydrocarbon receptor and SIM1, two basic helix-loop-helix PAS proteins involved in the control of food intake. J Biol Chem 2004; 279(10): 9306-9312.

Sim2 defines region-specific neuroendocrine cell types in the anterior hypothalamus - Goshu E, Hui J, Marion JF, Michaud JL, Fan CM. Sim2 defines region-specific neuroendocrine cell types in the anterior hypothalamus. Mol Endocrinol 2004; 18(5): 1251-1262.

Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism - Crow YJ, Black DN, Ali M, Bond J, Jackson AP, Lefson M, Michaud JL, Roberts EA, Stephenson JB, Wood C, Lebon P. Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. J Med Genet 2003; 40(3): 183-187.

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis - Chagnon P, Michaud JL, Mitchell GA, Mercier J, Marion JF, Drouin E, Rasquin A, Hudson TJ, Richter A. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet 2002; 71(6): 1443-1449.

Sim2 has complex developmental functions which do not overlap those of Sim1 - Goshu E, Jin H, Fasnacht R, Michaud JL, Fan CM. Sim2 has complex developmental functions which do not overlap those of Sim1. Mol Cell Biol 2002; 22: 4147-4157.

Sim 1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus - Michaud JL, Boucher F, Melnyk A, Gauthier F, Goshu E, Levy E, Mitchell GA, Himms-Hagen J, Fan CM. Sim 1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus. Hum Mol Genet 2001; 10(14): 1465-1473.

The developmental program of the hypothalamus and its disorder - Michaud JL. The developmental program of the hypothalamus and its disorder. Clin Genet 2001; 60: 255-263.

Effect of human recombinant leptin on lipid handling by fully differentiated Caco-2 cells - Stan S, Levy E, Bendayan M, Zoltowska M, Lambert MA, Michaud JL, Asselin C, Delvin EE. Effect of human recombinant leptin on lipid handling by fully differentiated Caco-2 cells. FEBS Lett 2001; 508(1): 80-84.

ARNT2 acts as the dimerization partner of SMI1 for the developement of the hypothalamus - Michaud JL, DeRossi C, May N, Holdener BC, Fan CM. ARNT2 acts as the dimerization partner of SMI1 for the developement of the hypothalamus. Mech Dev 2000; 90: 253-261.

Members of the bHLH Sim family regulates Shh transcription in cranial regions of the mouse CNS - Epstein DJ, Martinu L, Michaud JL, Losos KM, Fan CM, Joyer AL. Members of the bHLH Sim family regulates Shh transcription in cranial regions of the mouse CNS. Development 2000; 127(21): 4701-4709.

Alström syndrome: further evidence for linkage to human chromosome 2p13 - Collin GB, Marshall J, Boerkoel CF, Levin AV, Weksberg R, Greenberg J, Michaud JL, Naggert JK, Nishima PM. Alström syndrome: further evidence for linkage to human chromosome 2p13. Hum Genet 1999; 105: 474-479.

Progressive impairment of developing neuroendocrine cell lineages in the hypothalamus of mice lacking the Orthopedia gene - Acampora D, Postiglione MP, Di Bonito M, Vaccarino FM, Michaud JL, Simeone A. Progressive impairment of developing neuroendocrine cell lineages in the hypothalamus of mice lacking the Orthopedia gene. Gene Dev 1999; 13: 2787-2800.

Development of neuroendocrine lineages requires the bHLH/PAS transcription factor S1M1 - Michaud JL, Rosenquist T, May N, Martin GR, Tessier-Lavigne M, Fan CM. Development of neuroendocrine lineages requires the bHLH/PAS transcription factor S1M1. Gene Dev 1998; 12: 3264-3275.

Analysis of the genetic pathway leading to formation of ectopic apical ectodermal ridges in mouse Engrailed-1 mutant limbs - Loomis CA, Kimmel R, Tong CX, Michaud JL, Joyer AL. Analysis of the genetic pathway leading to formation of ectopic apical ectodermal ridges in mouse Engrailed-1 mutant limbs. Development 1998; 125: 1137-1148.