Annalisa Vetro

Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome

Felix Beuschlein, Guillaume Assié, Davide Calebiro et al. · New England Journal of Medicine · 2014 · 431 citations · Full text

Life Sciences, Endocrinology, Molecular Biology +14

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Manuela De Gregori, Roberto Ciccone, Pamela Magini et al. · Journal of Medical Genetics · 2007 · 357 citations · Full text

Life Sciences, Genetics, Cytogenetics +16

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Immacolata Andolfo, Seth L. Alper, Lucia De Franceschi et al. · Blood · 2013 · 322 citations

Life Sciences, Genetics, Molecular Genetics +5

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 303 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

María Clara Bonaglia, Roberto Giorda, Silvana Beri et al. · PLoS Genetics · 2011 · 230 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17