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Human Genetics|December 15, 2021
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in malesHans-Jürgen Kreienkamp, Matias Wagner, Heike Weigand, et al.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.Journal of Medical Genetics|February 21, 2013
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresiaMark E Samuels, Jacek Majewski, Najmeh Alirezaie, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|June 1, 1996
[Sleeping position, prevention of sudden death syndrome and gastroesophageal reflux]C Faure, B Leluyer, Y Aujard, 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.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.Pageof 50