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Human Molecular Genetics|September 20, 2008
Mutations in the calcium-related gene IL1RAPL1 are associated with autismAmélie Piton, Jacques L Michaud, Huashan Peng, et al.Journal of Medical Genetics|September 27, 2012
Mutations in TMEM231 cause Joubert syndrome in French CanadiansMyriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, et al.Journal of Medical Genetics|May 21, 2013
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephalyJosé-Mario Capo-Chichi, Joseph Tcherkezian, Fadi F Hamdan, et al.American Journal of Human Genetics|October 19, 2010
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairmentFadi F Hamdan, Hussein Daoud, Daniel Rochefort, et al.Plos Genetics|March 9, 2011
A population genetic approach to mapping neurological disorder genes using deep resequencingRachel A Myers, Ferran Casals, Julie Gauthier, et al.American Journal of Human Genetics|March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationMyriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.American Journal of Human Genetics|May 13, 2014
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindnessIsabelle Perrault, Fadi F Hamdan, Marlène Rio, et al.Human Genetics|March 23, 2011
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaJulie Gauthier, Tabrez J Siddiqui, Peng Huashan, et al.Plos Genetics|October 3, 2013
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humansFerran Casals, Alan Hodgkinson, Julie Hussin, et al.Human Mutation|April 28, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor ImpairmentMyriam Srour, Véronique Caron, Toni Pearson, et al.Pageof 10