Damien Sanlaville

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters, Sébastien Jacquemont, Armand Valsesia et al. · Nature · 2010 · 560 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau et al. · Nature Genetics · 2013 · 441 citations

Medicine, Neurology, Neuroscience +17

Selective predisposition to bacterial infections in IRAK-4–deficient children: IRAK-4–dependent TLRs are otherwise redundant in protective immunity

Cheng‐Lung Ku, Horst von Bernuth, Capucine Pïcard et al. · The Journal of Experimental Medicine · 2007 · 392 citations · Full text

Life Sciences, Immunology, Microbiology +17

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 334 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16