Bruno Dallapiccola

Research.com Recognitions

• 2026 - Research.com Genetics in Italy Leader Award
• 2025 - Research.com Genetics in Italy Leader Award

Overview

Best Publications

• Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1

  Eriza Maria Valente;Patrick M. Abou-Sleiman;Viviana Caputo;Miratul M K Muqit

  4186
  Citations

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

  Y. Q. Gong;R. B. Slee;N. Fukai;G. Rawadi

  2623
  Citations

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

  A K Ryan;J A Goodship;D I Wilson;N Philip

  1310
  Citations

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

  Bhaswati Pandit;Anna Sarkozy;Len A Pennacchio;Claudio Carta

  759
  Citations

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

  Federica Del Chierico;Valerio Nobili;Pamela Vernocchi;Alessandra Russo

  726
  Citations

• PINK1 mutations are associated with sporadic early-onset parkinsonism.

  Enza Maria Valente;Sergio Salvi;Tamara Ialongo;Roberta Marongiu

  662
  Citations

• Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

  Marco Tartaglia;Len A Pennacchio;Len A Pennacchio;Chen Zhao;Kamlesh K Yadav

  654
  Citations

• Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

  Giuseppe Novelli;Antoine Muchir;Federica Sangiuolo;Anne Helbling-Leclerc

  628
  Citations

• Common variants at five new loci associated with early-onset inflammatory bowel disease.

  Marcin Imielinski;Robert N. Baldassano;Anne Griffiths;Richard K. Russell

  572
  Citations

• Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

  Laura Silvestri;Viviana Caputo;Emanuele Bellacchio;Luigia Atorino

  552
  Citations

• Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease

  Paola Dongiovanni;Salvatore Petta;Cristina Maglio;Anna Ludovica Fracanzani

  536
  Citations

• Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

  Enza Maria Valente;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Giuseppe Barrano;Giuseppe Barrano

  527
  Citations

• Joubert Syndrome and related disorders

  Francesco Brancati;Bruno Dallapiccola;Enza Maria Valente;Enza Maria Valente

  524
  Citations

• Development and Validation of a Multidimensional Prognostic Index for One-Year Mortality from Comprehensive Geriatric Assessment in Hospitalized Older Patients

  Alberto Pilotto;Luigi Ferrucci;Marilisa Franceschi;Luigi P. D'Ambrosio

  522
  Citations

• Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

  Maria Cristina Digilio;Emanuela Conti;Anna Sarkozy;Rita Mingarelli

  476
  Citations

• Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

  Viviana Cordeddu;Elia Di Schiavi;Len A. Pennacchio;Len A. Pennacchio;Avi Ma’ayan

  461
  Citations

• Parkes Weber syndrome, vein of galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

  Nicole Revencu;Laurence M. Boon;John B. Mulliken;Odile Enjolras

  450
  Citations

• Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

  Anita Rauch;Christian T. Thiel;Detlev Schindler;Ursula Wick

  449
  Citations

• The origin of the major cystic fibrosis mutation (ΔF508) in European populations

  N. Morral;J. Bertranpetit;X. Estivill;V. Nunes

  444
  Citations

• Leopard syndrome

  Anna Sarkozy;Maria Cristina Digilio;Bruno Dallapiccola

  352
  Citations