Patricia Blanchet

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Louise Devisme, C Bouchet, Marie Gonzalès et al. · Brain · 2012 · 187 citations

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Nathalie Pallarès-Ruiz, Patricia Blanchet, Michel Mondain et al. · European Journal of Human Genetics · 2002 · 160 citations · Full text

Auditory Processing, Mendelian Disorder, Genetic Disorder +10

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent, David Geneviève, Agnès Ostertag et al. · Genetics in Medicine · 2015 · 159 citations

Large Series, Collins Syndrome, Molecular Study +1

Molecular epidemiology of DFNB1 deafness in France

Anne‐Françoise Roux, Nathalie Pallarès-Ruiz, Anne Vielle et al. · BMC Medical Genetics · 2004 · 124 citations · Full text

15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

Clémence Vanlerberghe, Florence Petit, Valérie Malan et al. · European Journal of Medical Genetics · 2015 · 120 citations

Cardiovascular Disease, Behaviour Issues, Pediatric Heart Disease +9