Bruno Dallapiccola

Hereditary Early-Onset Parkinson's Disease Caused by Mutations in <i>PINK1</i>

Enza Maria Valente, Patrick M. Abou‐Sleiman, Viviana Caputo et al. · Science · 2004 · 3.4K citations · Full text

Neurodegenerative Diseases, Mitophagy, Mitochondrial Function +14

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Yaoqin Gong, Roger B. Slee, N Fukai et al. · Cell · 2001 · 2.2K citations · Full text

Bone Accrual, Sclerostin, Signal Transduction +8

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

Cytogenetics, Genetics, Genetic Epidemiology +23

Gut microbiota profiling of pediatric nonalcoholic fatty liver disease and obese patients unveiled by an integrated meta‐omics‐based approach

Federica Del Chierico, Valério Nobili, Pamela Vernocchi et al. · Hepatology · 2016 · 698 citations

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