Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

by Noreau, Anne, Beauchemin, Philippe, Dionne-Laporte, Alexandre, Dion, Patrick A, Rouleau, Guy A, Dupré, Nicolas
Published in Cerebellum Ataxias (2014)

Screening of novel restless legs syndrome–associated genes in French-Canadian families

by Akçimen, Fulya, Spiegelman, Dan, Dionne-Laporte, Alexandre, Gan-Or, Ziv, Dion, Patrick A., Rouleau, Guy A.
Published in Neurol Genet (2018)

Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia

by Sardaar, Sameer, Qi, Bill, Dionne-Laporte, Alexandre, Rouleau, Guy. A., Rabbany, Reihaneh, Trakadis, Yannis J.
Published in BMC Psychiatry (2020)

Genetic architecture and adaptations of Nunavik Inuit

by Zhou, Sirui, Xie, Pingxing, Quoibion, Amélie, Ambalavanan, Amirthagowri, Dionne-Laporte, Alexandre, Spiegelman, Dan, Bourassa, Cynthia V., Xiong, Lan, Dion, Patrick A., Rouleau, Guy A.
Published in Proc Natl Acad Sci U S A (2019)

Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails

by Kariminejad, Ariana, Ajeawung, Norbert Fonya, Bozorgmehr, Bita, Dionne-Laporte, Alexandre, Molidperee, Sirinart, Najafi, Kimia, Gibbs, Richard A, Lee, Brendan H, Hennekam, Raoul C, Campeau, Philippe M
Published in J Hum Genet (2016)

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia

by Chaumette, Boris, Ferrafiat, Vladimir, Ambalavanan, Amirthagowri, Goldenberg, Alice, Dionne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A., Gerardin, Priscille, Laurent, Claudine, Cohen, David, Rapoport, Judith, Rouleau, Guy A.
Published in Mol Psychiatry (2018)

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

by Lyahyai, Jaber, Oulad Amar Bencheikh, Bouchra, Elalaoui, Siham C., Mansouri, Maria, Boualla, Lamia, DIonne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A., Cossette, Patrick, Rouleau, Guy A., Sefiani, Abdelaziz
Published in BMC Pediatr (2018)

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

by Lyahyai, Jaber, Bencheikh, Bouchra Ouled Amar, Elalaoui, Siham C., Mansouri, Maria, Boualla, Lamia, DIonne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A., Cossette, Patrick, Rouleau, Guy A., Sefiani, Abdelaziz
Published in BMC Pediatr (2018)

Triple A syndrome presenting as complicated hereditary spastic paraplegia

by Leveille, Etienne, Gonorazky, Hernan D., Rioux, Marie‐France, Hazrati, Lili‐Naz, Ruskey, Jennifer A., Carnevale, Amanda, Spiegelman, Dan, Dionne‐Laporte, Alexandre, Rouleau, Guy A., Yoon, Grace, Gan‐Or, Ziv
Published in Mol Genet Genomic Med (2018)

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression

by Sarayloo, Faezeh, Dionne-Laporte, Alexandre, Catoire, Helene, Rochefort, Daniel, Houle, Gabrielle, Ross, Jay P., Akçimen, Fulya, Barros Oliveira, Rachel De, Turecki, Gustavo, Dion, Patrick A., Rouleau, Guy A.
Published in PLoS One (2019)

Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population

by Zhou, Sirui, Xiong, Lan, Xie, Pingxing, Ambalavanan, Amirthagowri, Bourassa, Cynthia V., Dionne-Laporte, Alexandre, Spiegelman, Dan, Turcotte Gauthier, Maude, Henrion, Edouard, Diallo, Ousmane, Dion, Patrick A., Rouleau, Guy A.
Published in PLoS One (2015)

Whole exome sequencing identifies novel predisposing genes in neural tube defects

by Lemay, Philippe, De Marco, Patrizia, Traverso, Monica, Merello, Elisa, Dionne‐Laporte, Alexandre, Spiegelman, Dan, Henrion, Édouard, Diallo, Ousmane, Audibert, François, Michaud, Jacques L., Cama, Armando, Rouleau, Guy A., Kibar, Zoha, Capra, Valeria
Published in Mol Genet Genomic Med (2018)

Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing

by Walcott, Brian P, Winkler, Ethan A, Zhou, Sirui, Birk, Harjus, Guo, Diana, Koch, Matthew J, Stapleton, Christopher J, Spiegelman, Dan, Dionne-Laporte, Alexandre, Dion, Patrick A, Kahle, Kristopher T, Rouleau, Guy A, Lawton, Michael T
Published in Hum Genome Var (2018)

De novo variants in sporadic cases of childhood onset schizophrenia

by Ambalavanan, Amirthagowri, Girard, Simon L, Ahn, Kwangmi, Zhou, Sirui, Dionne-Laporte, Alexandre, Spiegelman, Dan, Bourassa, Cynthia V, Gauthier, Julie, Hamdan, Fadi F, Xiong, Lan, Dion, Patrick A, Joober, Ridha, Rapoport, Judith, Rouleau, Guy A
Published in Eur J Hum Genet (2016)

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

by Jouan, Loubna, Ouled Amar Bencheikh, Bouchra, Daoud, Hussein, Dionne-Laporte, Alexandre, Dobrzeniecka, Sylvia, Spiegelman, Dan, Rochefort, Daniel, Hince, Pascale, Szuto, Anna, Lassonde, Maryse, Barbelanne, Marine, Tsang, William Y, Dion, Patrick A, Théoret, Hugo, Rouleau, Guy A
Published in Eur J Hum Genet (2016)

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

by Zhou, Sirui, Gan-Or, Ziv, Ambalavanan, Amirthagowri, Lai, Dongbing, Xie, Pingxing, Bourassa, Cynthia V., Strong, Stephanie, Ross, Jay P., Dionne-Laporte, Alexandre, Spiegelman, Dan, Dupré, Nicolas, Foroud, Tatiana M, Xiong, Lan, Dion, Patrick A., Rouleau, Guy A.
Published in Sci Rep (2018)

Epistasis analysis links immune cascades and cerebral amyloidosis

by Benedet, Andréa L., Labbe, Aurélie, Lemay, Philippe, Zimmer, Eduardo R., Pascoal, Tharick A., Leuzy, Antoine, Mathotaarachchi, Sulantha, Mohades, Sara, Shin, Monica, Dionne-Laporte, Alexandre, Beaudry, Thomas, Picard, Cynthia, Gauthier, Serge, Poirier, Judes, Rouleau, Guy, Rosa-Neto, Pedro
Published in J Neuroinflammation (2015)

De Novo Mutations in Moderate or Severe Intellectual Disability

by Hamdan, Fadi F., Srour, Myriam, Capo-Chichi, Jose-Mario, Daoud, Hussein, Nassif, Christina, Patry, Lysanne, Massicotte, Christine, Ambalavanan, Amirthagowri, Spiegelman, Dan, Diallo, Ousmane, Henrion, Edouard, Dionne-Laporte, Alexandre, Fougerat, Anne, Pshezhetsky, Alexey V., Venkateswaran, Sunita, Rouleau, Guy A., Michaud, Jacques L.
Published 2014

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

by Monlong, Jean, Girard, Simon L., Meloche, Caroline, Cadieux-Dion, Maxime, Andrade, Danielle M., Lafreniere, Ron G., Gravel, Micheline, Spiegelman, Dan, Dionne-Laporte, Alexandre, Boelman, Cyrus, Hamdan, Fadi F., Michaud, Jacques L., Rouleau, Guy, Minassian, Berge A., Bourque, Guillaume, Cossette, Patrick
Published in PLoS Genet (2018)

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

by Zhou, Sirui, Ambalavanan, Amirthagowri, Rochefort, Daniel, Xie, Pingxing, Bourassa, Cynthia V., Hince, Pascale, Dionne-Laporte, Alexandre, Spiegelman, Dan, Gan-Or, Ziv, Mirarchi, Cathy, Zaharieva, Vessela, Dupré, Nicolas, Kobayashi, Hatasu, Hitomi, Toshiaki, Harada, Kouji, Koizumi, Akio, Xiong, Lan, Dion, Patrick A., Rouleau, Guy A.
Published in Am J Hum Genet (2016)