Bénédicte Demeer

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

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Davor Lessel, Christina Gehbauer, Nuria C. Bramswig et al. · Brain · 2018 · 132 citations · Full text

Bcl11b Mutations, Brain Development, Lymphocyte Development +21

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes

M. H. Basha, Bénédicte Demeer, Nicole Revençu et al. · Journal of Medical Genetics · 2018 · 109 citations · Full text

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

Lucas Fares‐Taie, S. Gerber, Nicolas Chassaing et al. · The American Journal of Human Genetics · 2013 · 100 citations · Full text

Ocular Disease, Aldehyde Dehydrogenase, Ophthalmology +3

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth‐Bolard, Flavie Diguet, Nicolas Chatron et al. · Journal of Medical Genetics · 2019 · 79 citations · Full text