Patrizia Fiorio

Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract

Stefania Gimelli, Gianluca Caridi, Silvana Beri et al. · Human Mutation · 2010 · 67 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders

Stefania Gimelli, Valeria Capra, Maja Di Rocco et al. · Molecular Cytogenetics · 2014 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma

Stefania Gimelli, Silvana Beri, Harry A. Drabkin et al. · Molecular Cancer · 2009 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1

Valeria Capra, Mariasavina Severino, Andrea Rossi et al. · American Journal of Medical Genetics Part A · 2013 · 20 citations

Life Sciences, Endocrinology, Genetics +14

Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations

Elisa Tassano, Sarà Uccella, Thea Giacomini et al. · Cytogenetic and Genome Research · 2018 · 16 citations

Life Sciences, Genetics, Molecular Genetics +17