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 · 421 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 280 citations

Life Sciences, Genetics, Molecular Genetics +17

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 · 236 citations · Full text

Life Sciences, Genetics, Neuroscience +17

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 · 196 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

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

Life Sciences, Genetics, Molecular Genetics +5