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Fingerprint Dive into the research topics where Diego Vozzi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 28 Similar Profiles
Hearing Loss Medicine & Life Sciences
Exome Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Usher Syndromes Medicine & Life Sciences
Alleles Medicine & Life Sciences
Mevalonate Kinase Deficiency Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 2006 2018

  • 1043 Citations
  • 14 h-Index
  • 32 Article
  • 2 Comment/debate
  • 2 Letter
3 Citations (Scopus)

Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss

Morgan, A., Vuckovic, D., Krishnamoorthy, N., Rubinato, E., Ambrosetti, U., Castorina, P., Franzè, A., Vozzi, D., La Bianca, M., Cappellani, S., Di Stazio, M., Gasparini, P. & Girotto, G., 1 Jan 2018, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Hearing Loss
Age of Onset
Genes
Hearing
Central Asia
2 Citations (Scopus)

Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype

Girardelli, M., Loganes, C., Pin, A., Stacul, E., Decleva, E., Vozzi, D., Baj, G., De Giacomo, C., Tommasini, A. & Bianco, A. M., 18 May 2018, In : Inflammatory Bowel Diseases. 24, 6, p. 1204-1212 9 p.

Research output: Contribution to journalArticle

Nucleotides
Phenotype
Mutation
Inflammatory Bowel Diseases
NF-kappa B
1 Citation (Scopus)

TBL1Y: a new gene involved in syndromic hearing loss

Di Stazio, M., Collesi, C., Vozzi, D., Liu, W., Myers, M., Morgan, A., D′Adamo, P. A., Girotto, G., Rubinato, E., Giacca, M. & Gasparini, P., 1 Jan 2018, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Hearing Loss
Genes
Prostate
Y-Linked Genes
Exome

The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma

Verzegnassi, F., Valencic, E., Kiren, V., Giurici, N., Bianco, A. M., Marcuzzi, A., Vozzi, D., Tommasini, A. & Faletra, F., 1 Jul 2018, In : Journal of Pediatric Hematology/Oncology. 40, 5, p. e323-e326

Research output: Contribution to journalArticle

Exome
Human Herpesvirus 4
Lymphoma
Hemophagocytic Lymphohistiocytosis
Infectious Mononucleosis
176 Citations (Scopus)

Rare and low-frequency coding variants alter human adult height

MAGIC Investigators, The EPIC-InterAct Consortium, EPIC-CVD Consortium, CHD Exome+ Consortium, ExomeBP Consortium, T2D-Genes Consortium, GoT2D Genes Consortium, Global Lipids Genetics Consortium & ReproGen Consortium, 9 Feb 2017, In : Nature. 542, 7640, p. 186-190 5 p.

Research output: Contribution to journalArticle

Alleles
Insulin-Like Growth Factor Binding Protein 4
Pregnancy-Associated Plasma Protein-A
Growth Disorders
Multifactorial Inheritance