Patrícia Dias

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Nadia Bahi‐Buisson, Karine Poirier, Nathalie Boddaert et al. · Brain · 2010 · 141 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Sandra Whalen, Delphine Héron, Thierry Gaillon et al. · Human Mutation · 2011 · 131 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Catherine Fallet‐Bianco, Annie Laquerrière, Karine Poirier et al. · Acta Neuropathologica Communications · 2014 · 131 citations · Full text

Medicine, Developmental Biology, Genetics +17

<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer et al. · Clinical Genetics · 2013 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Machteld M. Oud, Paul Tuijnenburg, Maja Hempel et al. · The American Journal of Human Genetics · 2017 · 101 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12