Lysanne Patry

De Novo Mutations in Moderate or Severe Intellectual Disability

Fadi F. Hamdan, Myriam Srour, José‐Mario Capo‐Chichi et al. · PLoS Genetics · 2014 · 411 citations · Full text

Genetic Diseases, Mendelian Disorder, Genetic Disorder +13

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 et al. · Human Mutation · 2012 · 270 citations

Genetics, Pathology, Disease-causing Point Mutations +19

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

Anna Fassio, Lysanne Patry, Sonia Congia et al. · Human Molecular Genetics · 2011 · 233 citations · Full text

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

Duane L. Guernsey, Haiyan Jiang, Julie Hussin et al. · The American Journal of Human Genetics · 2010 · 194 citations · Full text

Developmental Biology, Cell Division, Molecular Genetics +3

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

Duane L. Guernsey, Makoto Matsuoka, Haiyan Jiang et al. · Nature Genetics · 2011 · 171 citations

Allelic Variant, Mendelian Disorder, Genetic Disorder +6