• 20204 Citations
  • 71 h-Index
1987 …2019
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Fingerprint Dive into the research topics where Paolo Gasparini is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 8 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

A catalog of genetic loci associated with kidney function from analyses of a million individuals

LifeLines Cohort Study, Jun 2019, In : Nature Genetics. 51, 6, p. 957-972 16 p.

Research output: Contribution to journalArticle

Genetic Loci
Kidney
Glomerular Filtration Rate
Chronic Renal Insufficiency
Translational Medical Research
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., 2019, In : European Journal of Human Genetics. 27, 1, p. 70-79

Research output: Contribution to journalArticle

Hearing Loss
Age of Onset
Genes
Hearing
Central Asia

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

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

Hearing Loss
Alleles
Genes
Single Nucleotide Polymorphism
Usher Syndromes
3 Citations (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 others, Fabretto, 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