Alessandra Renieri

Rett syndrome: Revised diagnostic criteria and nomenclature

Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze et al. · Annals of Neurology · 2010 · 1.4K citations · Full text

X-linked Alport Syndrome

Jean Philippe Jaïs, Bertrand Knebelmann, Iannis Giatras et al. · Journal of the American Society of Nephrology · 2000 · 574 citations

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

X-Linked Alport Syndrome

Jean Philippe Jaïs, Bertrand Knebelmann, Iannis Giatras et al. · Journal of the American Society of Nephrology · 2003 · 469 citations · Full text

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

Francesca Ariani, Dalila Rondinella, Rosangela Artuso et al. · The American Journal of Human Genetics · 2008 · 430 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +7