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Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection.
Vuckovic D, Mezzavilla M, Cocca M, Morgan A, Brumat M, Catamo E, Concas MP, Biino G, Franzè A, Ambrosetti U, Pirastu M, Gasparini P, Girotto G. Vuckovic D, et al. Among authors: mezzavilla m. Eur J Hum Genet. 2018 Aug;26(8):1167-1179. doi: 10.1038/s41431-018-0126-2. Epub 2018 Apr 30. Eur J Hum Genet. 2018. PMID: 29725052 Free PMC article.
A bird's-eye view of Italian genomic variation through whole-genome sequencing.
Cocca M, Barbieri C, Concas MP, Robino A, Brumat M, Gandin I, Trudu M, Sala CF, Vuckovic D, Girotto G, Matullo G, Polasek O, Kolčić I, Gasparini P, Soranzo N, Toniolo D, Mezzavilla M. Cocca M, et al. Among authors: mezzavilla m. Eur J Hum Genet. 2020 Apr;28(4):435-444. doi: 10.1038/s41431-019-0551-x. Epub 2019 Nov 29. Eur J Hum Genet. 2020. PMID: 31784700 Free PMC article.
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.
Spedicati B, Cocca M, Palmisano R, Faletra F, Barbieri C, Francescatto M, Mezzavilla M, Morgan A, Pelliccione G, Gasparini P, Girotto G. Spedicati B, et al. Among authors: mezzavilla m. Eur J Hum Genet. 2021 Aug;29(8):1272-1281. doi: 10.1038/s41431-021-00850-9. Epub 2021 Mar 16. Eur J Hum Genet. 2021. PMID: 33727708 Free PMC article.
A reference panel of 64,976 haplotypes for genotype imputation.
McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, Vrieze S, Scott LJ, Zhang H, Mahajan A, Veldink J, Peters U, Pato C, van Duijn CM, Gillies CE, Gandin I, Mezzavilla M, Gilly A, Cocca M, Traglia M, Angius A, Barrett JC, Boomsma D, Branham K, Breen G, Brummett CM, Busonero F, Campbell H, Chan A, Chen S, Chew E, Collins FS, Corbin LJ, Smith GD, Dedoussis G, Dorr M, Farmaki AE, Ferrucci L, Forer L, Fraser RM, Gabriel S, Levy S, Groop L, Harrison T, Hattersley A, Holmen OL, Hveem K, Kretzler M, Lee JC, McGue M, Meitinger T, Melzer D, Min JL, Mohlke KL, Vincent JB, Nauck M, Nickerson D, Palotie A, Pato M, Pirastu N, McInnis M, Richards JB, Sala C, Salomaa V, Schlessinger D, Schoenherr S, Slagboom PE, Small K, Spector T, Stambolian D, Tuke M, Tuomilehto J, Van den Berg LH, Van Rheenen W, Volker U, Wijmenga C, Toniolo D, Zeggini E, Gasparini P, Sampson MG, Wilson JF, Frayling T, de Bakker PI, Swertz MA, McCarroll S, Kooperberg C, Dekker A, Altshuler D, Willer C, Iacono W, Ripatti S, Soranzo N, Walter K, Swaroop A, Cucca F, Anderson CA, Myers RM, Boehnke M, McCarthy MI, Durbi… See abstract for full author list ➔ McCarthy S, et al. Among authors: mezzavilla m. Nat Genet. 2016 Oct;48(10):1279-83. doi: 10.1038/ng.3643. Epub 2016 Aug 22. Nat Genet. 2016. PMID: 27548312 Free PMC article.
Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.
Xue Y, Mezzavilla M, Haber M, McCarthy S, Chen Y, Narasimhan V, Gilly A, Ayub Q, Colonna V, Southam L, Finan C, Massaia A, Chheda H, Palta P, Ritchie G, Asimit J, Dedoussis G, Gasparini P, Palotie A, Ripatti S, Soranzo N, Toniolo D, Wilson JF, Durbin R, Tyler-Smith C, Zeggini E. Xue Y, et al. Among authors: mezzavilla m. Nat Commun. 2017 Jun 23;8:15927. doi: 10.1038/ncomms15927. Nat Commun. 2017. PMID: 28643794 Free PMC article.
Associations of autozygosity with a broad range of human phenotypes.
Clark DW, Okada Y, Moore KHS, Mason D, Pirastu N, Gandin I, Mattsson H, Barnes CLK, Lin K, Zhao JH, Deelen P, Rohde R, Schurmann C, Guo X, Giulianini F, Zhang W, Medina-Gomez C, Karlsson R, Bao Y, Bartz TM, Baumbach C, Biino G, Bixley MJ, Brumat M, Chai JF, Corre T, Cousminer DL, Dekker AM, Eccles DA, van Eijk KR, Fuchsberger C, Gao H, Germain M, Gordon SD, de Haan HG, Harris SE, Hofer E, Huerta-Chagoya A, Igartua C, Jansen IE, Jia Y, Kacprowski T, Karlsson T, Kleber ME, Li SA, Li-Gao R, Mahajan A, Matsuda K, Meidtner K, Meng W, Montasser ME, van der Most PJ, Munz M, Nutile T, Palviainen T, Prasad G, Prasad RB, Priyanka TDS, Rizzi F, Salvi E, Sapkota BR, Shriner D, Skotte L, Smart MC, Smith AV, van der Spek A, Spracklen CN, Strawbridge RJ, Tajuddin SM, Trompet S, Turman C, Verweij N, Viberti C, Wang L, Warren HR, Wootton RE, Yanek LR, Yao J, Yousri NA, Zhao W, Adeyemo AA, Afaq S, Aguilar-Salinas CA, Akiyama M, Albert ML, Allison MA, Alver M, Aung T, Azizi F, Bentley AR, Boeing H, Boerwinkle E, Borja JB, de Borst GJ, Bottinger EP, Broer L, Campbell H, Chanock S, Chee ML, Chen G, Chen YI, Chen Z, Chiu YF, Cocca M, Collins FS, Concas MP, Corley J, Cugliari G, van Dam RM, Damulina A, … See abstract for full author list ➔ Clark DW, et al. Among authors: mezzavilla m. Nat Commun. 2019 Oct 31;10(1):4957. doi: 10.1038/s41467-019-12283-6. Nat Commun. 2019. PMID: 31673082 Free PMC article.
59 results