Massimiliano Rossi

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

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon et al. · European Journal of Human Genetics · 2014 · 171 citations · Full text

Neurological Disorder, Clinical Neurology, Baraitser–winter Cerebrofrontofacial Syndrome +3

Penile Doppler Ultrasound in Patients with Erectile Dysfunction (ED): Role of Peak Systolic Velocity Measured in the Flaccid State in Predicting Arteriogenic ED and Silent Coronary Artery Disease

Giovanni Corona, Giorgio Fagioli, Edoardo Mannucci et al. · The Journal of Sexual Medicine · 2008 · 152 citations

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz, Judith St‐Onge, Yannis Duffourd et al. · Genetics in Medicine · 2017 · 133 citations · Full text

Molecular Diagnosis, Genetic Testing, Mendelian Disorder +9

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Sandra Whalen, Delphine Héron, Thierry Gaillon et al. · Human Mutation · 2011 · 128 citations

Missense Mutations, Clinical Diagnosis Score, Genetics +19