Lorena Travaglini

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2009 · 408 citations · Full text

Signal Transduction, Signaling Pathway, Cell Signaling +9

Epigenetic Silencing of the Myelopoiesis Regulator microRNA-223 by the AML1/ETO Oncoprotein

Francesco Fazi, Serena Racanicchi, Giuseppe Zardo et al. · Cancer Cell · 2007 · 384 citations · Full text

Epigenetic Silencing, Chromatin, Myelopoiesis Regulator Microrna-223 +12

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 281 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy et al. · The American Journal of Human Genetics · 2007 · 156 citations

Urology, Genetic Disorder, Genetics +10

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

Diego Martinelli, Lorena Travaglini, Christian A. Drouin et al. · Brain · 2013 · 151 citations · Full text

Mednik Syndrome, Pathology, Zinc Acetate Therapy +18