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 · 694 citations

Cardiomyopathy, Mendelian Disorder, Genetic Disorder +6

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 · 596 citations · Full text

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 · 418 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +5

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 · 350 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

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 · 164 citations

Down Syndrome, Clinical Disorders, Mendelian Disorder +6