Bruno Dallapiccola

Research interests

Publications

• Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

  The American Journal of Human Genetics · 2017 · https://doi.org/10.1016/j.ajhg.2017.11.013

• High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

  The American Journal of Human Genetics · 2017 · 10.1016/j.ajhg.2017.09.008

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

  Hepatology · 2016 · https://doi.org/10.1002/hep.28572

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

  Hepatology · 2014 · 10.1002/hep.27490

• Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

  The American Journal of Human Genetics · 2011 · 10.1016/j.ajhg.2011.11.021

• Joubert Syndrome and related disorders

  Orphanet Journal of Rare Diseases · 2010 · 10.1186/1750-1172-5-20

• A restricted spectrum of NRAS mutations causes Noonan syndrome

  Nature Genetics · 2009 · 10.1038/ng.497

• Mutations in PYCR1 cause cutis laxa with progeroid features

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.413

• Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.423

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

  Nature Genetics · 2009 · 10.1038/ng.489

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

  Nature Genetics · 2009 · 10.1038/ng.425

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

  Rejuvenation Research · 2008 · 10.1089/rej.2007.0569

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

  Science · 2008 · 10.1126/science.1151174

• Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

  Human Mutation · 2008 · 10.1002/humu.20746

• Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

  PEDIATRICS · 2008 · 10.1542/peds.2007-0929

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

  Nature Genetics · 2007 · https://doi.org/10.1038/ng2073

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

  Nature Genetics · 2006 · https://doi.org/10.1038/ng1805

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

  Human Molecular Genetics · 2005 · 10.1093/hmg/ddi377

• PINK1 mutations are associated with sporadic early‐onset parkinsonism

  Annals of Neurology · 2004 · 10.1002/ana.20256

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

  Science · 2004 · https://doi.org/10.1126/science.1096284

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

  The American Journal of Human Genetics · 2002 · https://doi.org/10.1086/341908

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

  The American Journal of Human Genetics · 2002 · 10.1086/341528

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

  Cell · 2001 · https://doi.org/10.1016/s0092-8674(01)00571-2

• Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

  Nature Genetics · 2000 · 10.1038/73508

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

  Journal of Medical Genetics · 1997 · https://doi.org/10.1136/jmg.34.10.798

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

  Nature Genetics · 1994 · https://doi.org/10.1038/ng0694-169

• Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

  Nature Genetics · 1994 · 10.1038/ng0494-420

Current projects

No projects listed.