Bruno Marino

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Bhaswati Pandit, Anna Sárközy, L Pennacchio et al. · Nature Genetics · 2007 · 702 citations

Life Sciences, Genetics, Molecular Genetics +9

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Anne S. Bassett, Donna M. McDonald‐McGinn, Koenraad Devriendt et al. · The Journal of Pediatrics · 2011 · 601 citations · Full text

Medicine, Cardiology, Genetics +15

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

M. Cristina Digilio, Emanuela Conti, Anna Sárközy et al. · The American Journal of Human Genetics · 2002 · 422 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

Richard N. Bamford, Erich Roessler, Rebecca D. Burdine et al. · Nature Genetics · 2000 · 351 citations

Life Sciences, Genetics, Molecular Genetics +12

Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome

Caterina Cancrini, Pamela Puliafito, M. Cristina Digilio et al. · The Journal of Pediatrics · 2014 · 167 citations

Life Sciences, Genetics, Molecular Genetics +14