Diego Vozzi
Italian Institute of Technology(IT)Italian institute for Genomic Medicine(IT)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genetic Associations and Epidemiology, Immunodeficiency and Autoimmune Disorders
Most-Cited Works
- → Type I interferon-mediated autoinflammation due to DNase II deficiency(2017)218 cited
- → Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss(2013)65 cited
- → Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype(2015)60 cited
- → Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients(2014)50 cited
- → LINE-1 regulates cortical development by acting as long non-coding RNAs(2023)48 cited
- → Genome-wide association analysis on normal hearing function identifiesPCDH20andSLC28A3as candidates for hearing function and loss(2015)47 cited
- → Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection(2013)46 cited
- → Rare coding variants and X-linked loci associated with age at menarche(2015)46 cited
- → A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss(2013)40 cited
- → Mevalonate kinase deficiency and IBD: shared genetic background(2014)35 cited