Stefano Paolacci

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortüm, Viviana Caputo, Christiane K. Bauer et al. · Nature Genetics · 2015 · 218 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni et al. · Human Molecular Genetics · 2014 · 142 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Further delineation of an entity caused by <i>CREBBP</i> and <i>EP300</i> mutations but not resembling Rubinstein–Taybi syndrome

Leonie A. Menke, Thatjana Gardeitchik, Peter Hammond et al. · American Journal of Medical Genetics Part A · 2018 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndrome

Stefano Paolacci, Yun Li, Emanuele Agolini et al. · Journal of Medical Genetics · 2018 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Wiedemann–Rautenstrauch syndrome: A phenotype analysis

Stefano Paolacci, Débora Romeo Bertola, José Francisco da Silva Franco et al. · American Journal of Medical Genetics Part A · 2017 · 59 citations · Full text

Medicine, Pediatrics, Craniofacial Genetics +15