• 192 Citations
  • 4 h-Index
20162019
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Fingerprint Dive into the research topics where Stefania Lenarduzzi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 5 Similar Profiles
Magnesium Medicine & Life Sciences
Hearing Loss Medicine & Life Sciences
Genome Medicine & Life Sciences
Genes Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Urine Medicine & Life Sciences
Uniparental Disomy Medicine & Life Sciences
Bilateral Hearing Loss Medicine & Life Sciences

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Research Output 2016 2019

  • 192 Citations
  • 4 h-Index
  • 9 Article
  • 1 Review article

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

Lenarduzzi, S., Morgan, A., Faletra, F., Cappellani, S., Morgutti, M., Mezzavilla, M., Peruzzi, A., Ghiselli, S., Ambrosetti, U., Graziano, C., Seri, M., Gasparini, P. & Girotto, G., Sep 15 2019, In : Hearing Research. 381, 107769.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Genome-wide meta-analysis unravels interactions between magnesium homeostasis and metabolic phenotypes

Corre, T., Arjona, F. J., Hayward, C., Youhanna, S., De Baaij, J. H. F., Belge, H., Nägele, N., Debaix, H., Blanchard, M. G., Traglia, M., Harris, S. E., Ulivi, S., Rueedi, R., Lamparter, D., Macé, A., Sala, C., Lenarduzzi, S., Ponte, B., Pruijm, M., Ackermann, D. & 21 others, Ehret, G., Baptista, D., Polasek, O., Rudan, I., Hurd, T. W., Hastie, N. D., Vitart, V., Waeber, G., Kutalik, Z., Bergmann, S., Vargas-Poussou, R., Konrad, M., Gasparini, P., Deary, I. J., Starr, J. M., Toniolo, D., Vollenweider, P., Hoenderop, J. G. J., Bindels, R. J. M., Bochud, M. & Devuyst, O., Jan 1 2018, In : Journal of the American Society of Nephrology. 29, 1, p. 335-348 14 p.

Research output: Contribution to journalArticle

Magnesium
Meta-Analysis
Homeostasis
Genome
Phenotype
Uniparental Disomy
Hearing
Hearing Loss
Alleles
Single Nucleotide Polymorphism

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.

Morgan, A., Lenarduzzi, S., Cappellani, S., Pecile, V., Morgutti, M., Orzan, E., Ghiselli, S., Ambrosetti, U., Brumat, M., Gajendrarao, P., Bianca, M. L., Faletra, F., Grosso, E., Sirchia, F., Sensi, A., Graziano, C., Seri, M., Gasparini, P. & Girotto, G., 2018, In : Frontiers in Genetics. 2018 Dec 21, 9:681, p. 681

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)

A novel OTOA mutation in an Italian family with hearing loss

Fontana, P., Morgutti, M., Pecile, V., Lenarduzzi, S., Cappellani, S., Falco, M., Scarano, F. & Lonardo, F., Dec 1 2017, In : Gene Reports. 9, p. 111-114 4 p.

Research output: Contribution to journalArticle

Bilateral Hearing Loss
Gene Deletion
Missense Mutation
Hearing Loss
Point Mutation