Bénédicte Duban‐Bedu

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 480 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

Caroline Schluth‐Bolard, Bruno Delobel, Damien Sanlaville et al. · European Journal of Medical Genetics · 2009 · 173 citations

Life Sciences, Genetics, Molecular Genetics +17

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

Nicolas Chassaing, Alexandre Causse, Adeline Vigouroux et al. · Clinical Genetics · 2013 · 119 citations · Full text

Medicine, Genetics, Molecular Genetics +15

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

Patricia Blanchet, Martina Bebin, Shaam Bruet et al. · PLoS Genetics · 2017 · 92 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

Eugenia Migliavacca, Christelle Golzio, Katrin Männik et al. · The American Journal of Human Genetics · 2015 · 72 citations · Full text

Medicine, Pathobiology, Pathology +6