V. Pelletier

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

Céline Bonnet, Joris Andrieux, Mylène Béri‐Dexheimer et al. · Journal of Medical Genetics · 2010 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with <i><scp>LZTFL1</scp></i> (<i><scp>BBS17</scp></i>) mutations

Élise Schaefer, Julia Lauer, M. Durand et al. · Clinical Genetics · 2013 · 40 citations

Life Sciences, Genetics, Molecular Genetics +14

Confirmation of <i>ADAMTSL4</i> mutations for autosomal recessive isolated bilateral Ectopia Lentis

V. Bennouna Greene, Corinne Stoetzel, V. Pelletier et al. · Ophthalmic Genetics · 2010 · 36 citations

Medicine, Genetics, Ophthalmology +12

Confirmation of <i>TFAP2A</i> gene involvement in branchio‐oculo‐facial syndrome (BOFS) and report of temporal bone anomalies

Corinne Stoetzel, S. Riehm, V. Bennouna Greene et al. · American Journal of Medical Genetics Part A · 2009 · 33 citations

Dentistry, Craniofacial Biology, Oral Radiology +17

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

Konstantinos A. Aliferis, Claire Marsal, V. Pelletier et al. · Ophthalmic Genetics · 2010 · 24 citations

Life Sciences, Genetics, Molecular Genetics +17