De Novo Mutations in Moderate or Severe Intellectual Disability

Fadi F. Hamdan, Myriam Srour, José‐Mario Capo‐Chichi, +14

PLoS Genetics

Genetic DiseasesMendelian DisorderGenetic DisorderMedicineGenetics +11

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

Fadi F. Hamdan, Julie Gauthier, Yoichi Araki, +30

The American Journal of Human Genetics

Genes AssociatedGenetic DisorderGeneticsPsychiatric GeneticsNonsyndromic Intellectual Disability +6

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

Philip Awadalla, Julie Gauthier, Rachel A. Myers, +30

The American Journal of Human Genetics

PsychiatrySyndromic AutismGeneticsPsychiatric GeneticsGenetic Epidemiology +6

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

Fadi F. Hamdan, Hussein Daoud, Daniel Rochefort, +16

The American Journal of Human Genetics

Neurodevelopmental DisordersGenetic DisorderGeneticsFragile X SpectrumLanguage Impairment +7

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Kelly L. Williams, Simon Topp, Shu Yang, +65

Nature Communications

Contribution of <i>TARDBP</i> mutations to sporadic amyotrophic lateral sclerosis

Hussein Daoud, Paul N. Valdmanis, Edor Kabashi, +5

Journal of Medical Genetics

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

Fadi F. Hamdan, Hussein Daoud, Amélie Piton, +13

Biological Psychiatry

Neurodevelopmental DisordersSyndromic AutismGenetic DisorderGeneticsPsychiatric Genetics +7

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in <i>C9orf72</i> reveals marked differences in results among 14 laboratories

Chizuru Akimoto, Alexander E. Volk, Marka van Blitterswijk, +40

Journal of Medical Genetics

Mutations in <i>FUS</i> cause FALS and SALS in French and French Canadian populations

Véronique Belzil, Paul N. Valdmanis, Patrick A. Dion, +14

Neurology

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

Hannah Kaneb, Andrew W. Folkmann, Véronique Belzil, +17

Human Molecular Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisDevelopmental BiologyMotor NeuronsGenetic Disorder +8