Sara Giangiobbe

Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family

Abhishek Kumar, Obul Reddy Bandapalli, Nagarajan Paramasivam et al. · Scientific Reports · 2018 · 42 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Whole Genome Sequencing of Familial Non-Medullary Thyroid Cancer Identifies Germline Alterations in MAPK/ERK and PI3K/AKT Signaling Pathways

Aayushi Srivastava, Abhishek Kumar, Sara Giangiobbe et al. · Biomolecules · 2019 · 35 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency

Annamaria Macchiaroli, Daniel Kelberman, Renata S. Auriemma et al. · Gene · 2013 · 29 citations

Medicine, Genetics, Molecular Genetics +15

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6

Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski et al. · Genes · 2019 · 26 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Deregulation of MiR-34b/Sox2 Predicts Prostate Cancer Progression

Irene Forno, Stefano Ferrero, Maria Veronica Russo et al. · PLoS ONE · 2015 · 25 citations · Full text

Medicine, Molecular Biology, Oncology +17