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

Mutations in<i>SYNGAP1</i>Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Martin H. Berryer, Fadi F. Hamdan, Laura L. Klitten, +24

Human Mutation

GeneticsPathologyDisease-causing Point MutationsDisease Gene IdentificationSynaptic Signaling +17

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

Anna Fassio, Lysanne Patry, Sonia Congia, +18

Human Molecular Genetics

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

Duane L. Guernsey, Haiyan Jiang, Julie Hussin, +21

The American Journal of Human Genetics

Developmental BiologyCell DivisionMolecular GeneticsCentrosomal Protein Cep152Medicine +1

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

Duane L. Guernsey, Makoto Matsuoka, Haiyan Jiang, +20

Nature Genetics

Allelic VariantMendelian DisorderGenetic DisorderGeneticsMolecular Genetics +4

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev, +41

Neuron

Developmental AnomalyDevelopmental BiologyGenetic DisorderProgressive FormGenetics +4

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

Myriam Srour, Jeremy Schwartzentruber, Fadi F. Hamdan, +16

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsFrench Canadian PopulationGenetic Epidemiology +6

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

Myriam Srour, David Chitayat, Véronique Caron, +13

The American Journal of Human Genetics

Diaphragmatic HerniaDevelopmental BiologyOphthalmologyPathologyMedicine +2

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Jacek Majewski, Jeremy Schwartzentruber, Aurore Caqueret, +10

Human Mutation

Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome

José‐Mario Capo‐Chichi, Sanjay Kumar Bharti, Joshua A. Sommers, +10

Human Mutation