Federica Buonocore

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

Tülay Güran, Federica Buonocore, Nurçin Saka et al. · The Journal of Clinical Endocrinology & Metabolism · 2015 · 212 citations · Full text

Medicine, Endocrinology, Pediatrics +16

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

Rathi Prasad, Irene Hadjidemetriou, Avinaash Maharaj et al. · Journal of Clinical Investigation · 2017 · 175 citations · Full text

Medicine, Endocrinology, Molecular Genetics +16

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

Federica Buonocore, Peter Kühnen, Jenifer P. Suntharalingham et al. · Journal of Clinical Investigation · 2017 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Anu Bashamboo, Patricia A. Donohoue, Éric Vilain et al. · Human Molecular Genetics · 2016 · 131 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A genomic atlas of human adrenal and gonad development

Ignacio del Valle, Federica Buonocore, Andrew Duncan et al. · Wellcome Open Research · 2017 · 116 citations · Full text

Life Sciences, Developmental Biology, Genetics +17