• 19011 Citations
  • 69 h-Index
1987 …2019
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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 5 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Hearing Loss Medicine & Life Sciences
Genome-Wide Association Study Medicine & Life Sciences
Population Medicine & Life Sciences
Cystic Fibrosis Medicine & Life Sciences
Cystinuria Medicine & Life Sciences
Chromosomes Medicine & Life Sciences

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Research Output 1987 2019

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., Jan 2019, In : European Journal of Human Genetics. 27, 1, p. 70-79 10 p.

Research output: Contribution to journalArticle

Hearing Loss
Age of Onset
Genes
Hearing
Central Asia
1 Citation (Scopus)

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

Trimouille, A., Houcinat, N., Vuillaume, M. L., Fergelot, P., Fergelot, P., Boucher, C., Toutain, J., Caignec, C. L., Vincent, M., Nizon, M., Andrieux, J., Vanlerberghe, C., Delobel, B., Duban, B., Mansour, S., Baple, E., McKeown, C., Poke, G., Robertshaw, K., Fifield, E. & 12 othersFabretto, A., Pecile, V., Gasparini, P., Gasparini, P., Carrozzi, M., Lacombe, D., Lacombe, D., Arveiler, B., Arveiler, B., Rooryck, C., Rooryck, C. & Moutton, S., Jan 1 2018, In : European Journal of Human Genetics. 26, 1, p. 85-93 9 p.

Research output: Contribution to journalArticle

Sotos Syndrome
Intellectual Disability
Head
Phenotype
Chromosome Duplication

A genome-wide association study identifies an association between variants in EFCAB4B gene and periodontal disease in an Italian isolated population

Bevilacqua, L., Navarra, C. O., Pirastu, N., Lenarda, R. D., Gasparini, P. & Robino, A., Dec 1 2018, In : Journal of Periodontal Research. 53, 6, p. 992-998 7 p.

Research output: Contribution to journalArticle

Periodontitis
Genome-Wide Association Study
Periodontal Diseases
Single Nucleotide Polymorphism
Chronic Periodontitis

Association of LTA gene haploblock with periodontal disease in Italian adults

Zupin, L., Moura Rodrigues, R., Navarra, C. O., Bevilacqua, L., Catamo, E., Di Lenarda, R., Gasparini, P., Crovella, S. & Robino, A., Jan 1 2018, (Accepted/In press) In : Journal of Periodontal Research.

Research output: Contribution to journalArticle

Periodontitis
Periodontal Diseases
Mouth Diseases
Tooth Loss
Lymphotoxin-alpha
2 Citations (Scopus)

Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway

Fetoni, A. R., Zorzi, V., Paciello, F., Ziraldo, G., Peres, C., Raspa, M., Scavizzi, F., Salvatore, A. M., Crispino, G., Tognola, G., Gentile, G., Spampinato, A. G., Cuccaro, D., Guarnaccia, M., Morello, G., Van Camp, G., Fransen, E., Brumat, M., Girotto, G., Paludetti, G. & 3 othersGasparini, P., Cavallaro, S. & Mammano, F., Oct 1 2018, In : Redox Biology. 19, p. 301-317 17 p.

Research output: Contribution to journalArticle

Presbycusis
Connexins
Audition
Oxidation-Reduction
Genes