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31 results for Dionne-Laporte,+Alexandre

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Whole exome sequencing identifies novel predisposing genes in neural tube defects
Author / Creator: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
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-01, Vol.7 (1), p.e00467-n/a
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Triple A syndrome presenting as complicated hereditary spastic paraplegia
Author / Creator: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
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2018-11, Vol.6 (6), p.1134-1139
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Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2018-03, Vol.5 (1), p.18001-18001, Article 18001
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De Novo Mutations in Moderate or Severe Intellectual Disability
Author / Creator: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.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2014-10, Vol.10 (10), p.e1004772
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Draft genome sequence of the rubber tree Hevea brasiliensis
Author / Creator:Rahman, Ahmad Yamin Abdul ; Usharraj, Abhilash O ; Misra, Biswapriya B ; Thottathil, Gincy P ; Jayasekaran, Kandakumar ; Feng, Yun ; Hou, Shaobin ; Ong, Su Yean ; Ng, Fui Ling ; Lee, Ling Sze ; Tan, Hock Siew ; Sakaff, Muhd Khairul Luqman Muhd ; Teh, Beng Soon ; Khoo, Bee Feong ; Badai, Siti Suriawati ; Aziz, Nurohaida Ab ; Yuryev, Anton ; Knudsen, Bjarne ; Dionne-Laporte, Alexandre ; Mchunu, Nokuthula P ; Yu, Qingyi ; Langston, Brennick J ; Freitas, Tracey Allen K ; Young, Aaron G ; Chen, Rui ; Wang, Lei ; Najimudin, Nazalan ; Saito, Jennifer A ; Alam, Maqsudul
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2013-02, Vol.14 (1), p.75-75, Article 75
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Global characterization of copy number variants in epilepsy patients from whole genome sequencing
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2018-04, Vol.14 (4), p.e1007285-e1007285
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De novo variants in sporadic cases of childhood onset schizophrenia
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.944-948
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Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression
Author / Creator: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.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-11, Vol.14 (11), p.e0225186-e0225186
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Loss-of-function de novo mutations play an important role in severe human neural tube defects
Author / Creator:Lemay, Philippe ; Guyot, Marie-Claude ; Tremblay, Élizabeth ; Dionne-Laporte, Alexandre ; Spiegelman, Dan ; Henrion, Édouard ; Diallo, Ousmane ; De Marco, Patrizia ; Merello, Elisa ; Massicotte, Christine ; Désilets, Valérie ; Michaud, Jacques L ; Rouleau, Guy A ; Capra, Valeria ; Kibar, Zoha
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-07, Vol.52 (7), p.493-497
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SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia
Author / Creator:Leveille, Etienne ; Estiar, Mehrdad A. ; Krohn, Lynne ; Spiegelman, Dan ; Dionne-Laporte, Alexandre ; Dupré, Nicolas ; Trempe, Jean François ; Rouleau, Guy A. ; Gan-Or, Ziv
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-11, Vol.64 (11), p.1145-1151
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Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia
Author / Creator:Sardaar, Sameer ; Qi, Bill ; Dionne-Laporte, Alexandre ; Rouleau, Guy. A. ; Rabbany, Reihaneh ; Trakadis, Yannis J.
Publisher:England: BioMed Central Ltd
Journal title:BMC psychiatry, 2020-02, Vol.20 (1), p.92-11, Article 92
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Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia
Author / Creator:Accogli, Andrea ; Russell, Laura ; Sébire, Guillaume ; Rivière, Jean-Baptiste ; St-Onge, Judith ; Addour-Boudrahem, Nassima ; Laporte, Alexandre Dionne ; Rouleau, Guy A. ; Saint-Martin, Christine ; Srour, Myriam
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2019-05, Vol.20 (2), p.103-108
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Novel germline and somatic variants in familial and sporadic meningioma genes
Author / Creator:Bencheikh, Bouchra Ouled Amar ; Dilliott, Allison A. ; Gauthier, Julie ; Laurent, Sandra Beatrice ; Ambalavanan, Amirthagowri ; Spiegelman, Dan ; Dionne-Laporte, Alexandre ; Lyahyai, Jaber ; Martuza, Robert L. ; Sieb, Jörn P. ; Farhan, Sali M. K. ; Dion, Patrick A. ; Pulst, Stefan-M. ; Rouleau, Guy A.
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2025-05, Vol.10 (1), p.41-9, Article 41
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Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-04, Vol.62 (4), p.465-471
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Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population
Author / Creator: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.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-05, Vol.10 (5), p.e0128255-e0128255
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Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2018-04, Vol.18 (1), p.138-138, Article 138
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Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Author / Creator:Lyahyai, Jaber ; Ouled 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
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2018-02, Vol.18 (1), p.90-90, Article 90
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Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia
Author / Creator: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.
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2020-04, Vol.25 (4), p.821-830
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Increased exonic de novo mutation rate in individuals with schizophrenia
Author / Creator:Girard, Simon L ; Gauthier, Julie ; Noreau, Anne ; Xiong, Lan ; Zhou, Sirui ; Jouan, Loubna ; Dionne-Laporte, Alexandre ; Spiegelman, Dan ; Henrion, Edouard ; Diallo, Ousmane ; Thibodeau, Pascale ; Bachand, Isabelle ; Bao, Jessie Y J ; Tong, Amy Hin Yan ; Lin, Chi-Ho ; Millet, Bruno ; Jaafari, Nematollah ; Joober, Ridha ; Dion, Patrick A ; Lok, Si ; Krebs, Marie-Odile ; Rouleau, Guy A
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-09, Vol.43 (9), p.860-863
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Genetic architecture and adaptations of Nunavik Inuit
Author / Creator:Zhou, Sirui ; Xie (谢萍星), Pingxing ; Quoibion, Amélie ; Ambalavanan, Amirthagowri ; Dionne-Laporte, Alexandre ; Spiegelman, Dan ; Bourassa, Cynthia V. ; Xiong, Lan ; Dion, Patrick A. ; Rouleau, Guy A.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2019-08, Vol.116 (32), p.16012-16017
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Showing 1 to 20 of 31 results

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Whole exome sequencing identifies novel predisposing genes in neural tube defects

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Triple A syndrome presenting as complicated hereditary spastic paraplegia

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

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De Novo Mutations in Moderate or Severe Intellectual Disability

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Draft genome sequence of the rubber tree Hevea brasiliensis

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

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De novo variants in sporadic cases of childhood onset schizophrenia

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

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Loss-of-function de novo mutations play an important role in severe human neural tube defects

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SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia

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

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Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

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Novel germline and somatic variants in familial and sporadic meningioma genes

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Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

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

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

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

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

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Increased exonic de novo mutation rate in individuals with schizophrenia

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Genetic architecture and adaptations of Nunavik Inuit

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