Patrizia D’Adamo

A novel X-linked gene, G4.5. is responsible for Barth syndrome

Silvia Bione, Patrizia D’Adamo, Elena Maestrini et al. · Nature Genetics · 1996 · 748 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

Patrizia D’Adamo, Andrea Menegon, Cristiana Lo Nigro et al. · Nature Genetics · 1998 · 333 citations

Mendelian Disorder, Psychiatry, Genetic Disorder +7

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean et al. · The American Journal of Human Genetics · 2014 · 268 citations · Full text

Neurodegenerative Diseases, Genetic Disorder, Genetics +8

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna et al. · The American Journal of Human Genetics · 2010 · 234 citations · Full text

Syndromic Autism, Genetic Disorder, Genetics +8

The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

Patrizia D’Adamo, Lucia Fassone, Ági K. Gedeon et al. · The American Journal of Human Genetics · 1997 · 232 citations · Full text

X-linked Gene G4.5, Cardiac Muscle, Cardiomyopathy +9