Martine Doco‐Fenzy

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

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Robert Lyle, Frédérique Béna, Sarantis Gagos et al. · European Journal of Human Genetics · 2008 · 325 citations · Full text

Down Syndrome, Array Cgh, Cytogenetics +6

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer et al. · Journal of Medical Genetics · 2014 · 270 citations · Full text

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Camille Leroy, Emilie Landais, Sylvain Briault et al. · European Journal of Human Genetics · 2012 · 131 citations · Full text

Clinical Disorders, New Patients, Genetic Disorder +4

Subtelomeric imbalances in phenotypically normal individuals

Irina Balikova, Björn Menten, Thomy de Ravel et al. · Human Mutation · 2007 · 126 citations