Sylvie Jaillard

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

<i>MEF2C</i> haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard et al. · Journal of Medical Genetics · 2009 · 220 citations · Full text

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 · Full text

Genetic Disorder, Genetics, Evolutionary Biology +7

Delineation of 15q13.3 microdeletions

Alice Masurel‐Paulet, Joris Andrieux, Patrick Callier et al. · Clinical Genetics · 2010 · 150 citations

Psychiatry, Scientific Data Management, Cosmology +12

Twelve new patients with 13q deletion syndrome: Genotype–phenotype analyses in progress

Chloé Quēlin, Claude Bendavid, Christèle Dubourg et al. · European Journal of Medical Genetics · 2008 · 127 citations

Genetic Disorder, Genetics, Genetic Epidemiology +8