Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes

by Calwing Liao, Alexandre D. Laporte, Dan Spiegelman, Fulya Akçimen, Ridha Joober, Patrick A. Dion, Guy A. Rouleau
Published 2019-10-01

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype

by Mehrdad A. Estiar, Etienne Leveille, Dan Spiegelman, Nicolas Dupre, Jean-François Trempe, Guy A. Rouleau, Ziv Gan‐Or
Published 2020-03-01

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

by Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani
Published 2018-02-01

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

by Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani
Published 2018-04-01

Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.

by Sirui Zhou, Lan Xiong, Pingxing Xie, Amirthagowri Ambalavanan, Cynthia V Bourassa, Alexandre Dionne-Laporte, Dan Spiegelman, Maude Turcotte Gauthier, Edouard Henrion, Ousmane Diallo, Patrick A Dion, Guy A Rouleau
Published 2015-01-01

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

by Jean Monlong, Simon L Girard, Caroline Meloche, Maxime Cadieux-Dion, Danielle M Andrade, Ron G Lafreniere, Micheline Gravel, Dan Spiegelman, Alexandre Dionne-Laporte, Cyrus Boelman, Fadi F Hamdan, Jacques L Michaud, Guy Rouleau, Berge A Minassian, Guillaume Bourque, Patrick Cossette
Published 2018-04-01

De novo mutations in moderate or severe intellectual disability.

by Fadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo, Edouard Henrion, Alexandre Dionne-Laporte, Anne Fougerat, Alexey V Pshezhetsky, Sunita Venkateswaran, Guy A Rouleau, Jacques L Michaud
Published 2014-10-01

Fine mapping of the HLA locus in Parkinson’s disease in Europeans

by Eric Yu, Aditya Ambati, Maren Stolp Andersen, Lynne Krohn, Mehrdad A. Estiar, Prabhjyot Saini, Konstantin Senkevich, Yuri L. Sosero, Ashwin Ashok Kumar Sreelatha, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Mathias Toft, Marte K. Viken, Manu Sharma, Cornelis Blauwendraat, Lasse Pihlstrøm, Emmanuel Mignot, Ziv Gan-Or
Published 2021-09-01

Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor

by Calwing Liao, Calwing Liao, Faezeh Sarayloo, Faezeh Sarayloo, Veikko Vuokila, Daniel Rochefort, Fulya Akçimen, Fulya Akçimen, Simone Diamond, Gabrielle Houle, Gabrielle Houle, Alexandre D. Laporte, Dan Spiegelman, Qin He, Hélène Catoire, Patrick A. Dion, Patrick A. Dion, Guy A. Rouleau, Guy A. Rouleau, Guy A. Rouleau
Published 2020-07-01

A population genetic approach to mapping neurological disorder genes using deep resequencing.

by Rachel A Myers, Ferran Casals, Julie Gauthier, Fadi F Hamdan, Jon Keebler, Adam R Boyko, Carlos D Bustamante, Amelie M Piton, Dan Spiegelman, Edouard Henrion, Martine Zilversmit, Julie Hussin, Jacklyn Quinlan, Yan Yang, Ronald G Lafrenière, Alexander R Griffing, Eric A Stone, Guy A Rouleau, Philip Awadalla
Published 2011-02-01