Jacques L. Michaud

Thème (s)

• Génétique des désordres du neuro-développement, incluant la déficience intellectuelle, l’autisme et l’épilepsie;
• Caractérisation fonctionnelle des gènes associés aux désordres du neuro-développement.

Publications choisies

• Perrault I, Hamdan FF, Rio M, Décarie J-C, Boddaert N, Maranda B, Lortie A, Nabbout R, Capo-Chichi J, Roux P, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL. (2014). Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. American Journal of Human Genetics, 94:891-7.
• Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie J-C, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge A-M, Maftei C, Care4Rare Canada Consortium, Boycott K, Brais B, Boucher R-M, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. (2015). Joubert syndrome in French Canadians and identification of mutations in CEP104. American Journal of Human Genetics, 97:744-53.
• Berryer MH, Chattopadhyaya B, Xing P, Riebe I, Bosoi C, Sanon N, Antoine-Bertrand J, Lévesque M, Avoli M, Hamdan FF, Carmant L, Lamarche-Vane N, Lacaille J-C*, Michaud JL*, Di Cristo G.* (2016). Decrease of Syngap1 in GABAergic cells impairs inhibitory synapse development, synaptic inhibition and cognitive function. Nature Communications, 7:13340 (14 pages). *contribution égale
• Srour M, Shimokawa N, Fadi F. Hamdan, Nassif C, Poulin C, Al Gazali L, Rosenfeld JA, Koibuchi N, Rouleau GA, Al Shamsi A, Michaud JL. (2017). Dysfunction of the cerebral glucose transporter SLC45A1 in individuals with intellectual disability and epilepsy. American Journal of Human Genetics, 100:824-830.
• 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*. (2017). High rate of recurrent de novo mutations in developmental and epileptic encephalopathies. American Journal of Human Genetics, 101:664-685. *contribution égale