Publications by authors named "Massimo Mezzavilla"

47Publications

A population-based approach for gene prioritization in understanding complex traits.

Hum Genet 2020 May 30;139(5):647-655. Epub 2020 Mar 30.

Institute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria 65/1, 34137, Trieste, Italy.

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http://dx.doi.org/10.1007/s00439-020-02152-4DOI Listing
May 2020

Author Correction: Establishment and equilibrium levels of deleterious mutations in large populations.

Sci Rep 2020 Mar 17;10(1):5091. Epub 2020 Mar 17.

Institute for Cellular and Molecular Medicine, Department of Immunology, University of Pretoria, Pretoria, 0084, South Africa.

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http://dx.doi.org/10.1038/s41598-020-62009-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078268PMC
March 2020

Associations of autozygosity with a broad range of human phenotypes.

Authors:
David W Clark Yukinori Okada Kristjan H S Moore Dan Mason Nicola Pirastu Ilaria Gandin Hannele Mattsson Catriona L K Barnes Kuang Lin Jing Hua Zhao Patrick Deelen Rebecca Rohde Claudia Schurmann Xiuqing Guo Franco Giulianini Weihua Zhang Carolina Medina-Gomez Robert Karlsson Yanchun Bao Traci M Bartz Clemens Baumbach Ginevra Biino Matthew J Bixley Marco Brumat Jin-Fang Chai Tanguy Corre Diana L Cousminer Annelot M Dekker David A Eccles Kristel R van Eijk Christian Fuchsberger He Gao Marine Germain Scott D Gordon Hugoline G de Haan Sarah E Harris Edith Hofer Alicia Huerta-Chagoya Catherine Igartua Iris E Jansen Yucheng Jia Tim Kacprowski Torgny Karlsson Marcus E Kleber Shengchao Alfred Li Ruifang Li-Gao Anubha Mahajan Koichi Matsuda Karina Meidtner Weihua Meng May E Montasser Peter J van der Most Matthias Munz Teresa Nutile Teemu Palviainen Gauri Prasad Rashmi B Prasad Tallapragada Divya Sri Priyanka Federica Rizzi Erika Salvi Bishwa R Sapkota Daniel Shriner Line Skotte Melissa C Smart Albert Vernon Smith Ashley van der Spek Cassandra N Spracklen Rona J Strawbridge Salman M Tajuddin Stella Trompet Constance Turman Niek Verweij Clara Viberti Lihua Wang Helen R Warren Robyn E Wootton Lisa R Yanek Jie Yao Noha A Yousri Wei Zhao Adebowale A Adeyemo Saima Afaq Carlos Alberto Aguilar-Salinas Masato Akiyama Matthew L Albert Matthew A Allison Maris Alver Tin Aung Fereidoun Azizi Amy R Bentley Heiner Boeing Eric Boerwinkle Judith B Borja Gert J de Borst Erwin P Bottinger Linda Broer Harry Campbell Stephen Chanock Miao-Li Chee Guanjie Chen Yii-Der I Chen Zhengming Chen Yen-Feng Chiu Massimiliano Cocca Francis S Collins Maria Pina Concas Janie Corley Giovanni Cugliari Rob M van Dam Anna Damulina Maryam S Daneshpour Felix R Day Graciela E Delgado Klodian Dhana Alexander S F Doney Marcus Dörr Ayo P Doumatey Nduna Dzimiri S Sunna Ebenesersdóttir Joshua Elliott Paul Elliott Ralf Ewert Janine F Felix Krista Fischer Barry I Freedman Giorgia Girotto Anuj Goel Martin Gögele Mark O Goodarzi Mariaelisa Graff Einat Granot-Hershkovitz Francine Grodstein Simonetta Guarrera Daniel F Gudbjartsson Kamran Guity Bjarni Gunnarsson Yu Guo Saskia P Hagenaars Christopher A Haiman Avner Halevy Tamara B Harris Mehdi Hedayati David A van Heel Makoto Hirata Imo Höfer Chao Agnes Hsiung Jinyan Huang Yi-Jen Hung M Arfan Ikram Anuradha Jagadeesan Pekka Jousilahti Yoichiro Kamatani Masahiro Kanai Nicola D Kerrison Thorsten Kessler Kay-Tee Khaw Chiea Chuen Khor Dominique P V de Kleijn Woon-Puay Koh Ivana Kolcic Peter Kraft Bernhard K Krämer Zoltán Kutalik Johanna Kuusisto Claudia Langenberg Lenore J Launer Deborah A Lawlor I-Te Lee Wen-Jane Lee Markus M Lerch Liming Li Jianjun Liu Marie Loh Stephanie J London Stephanie Loomis Yingchang Lu Jian'an Luan Reedik Mägi Ani W Manichaikul Paolo Manunta Gísli Másson Nana Matoba Xue W Mei Christa Meisinger Thomas Meitinger Massimo Mezzavilla Lili Milani Iona Y Millwood Yukihide Momozawa Amy Moore Pierre-Emmanuel Morange Hortensia Moreno-Macías Trevor A Mori Alanna C Morrison Taulant Muka Yoshinori Murakami Alison D Murray Renée de Mutsert Josyf C Mychaleckyj Mike A Nalls Matthias Nauck Matt J Neville Ilja M Nolte Ken K Ong Lorena Orozco Sandosh Padmanabhan Gunnar Pálsson James S Pankow Cristian Pattaro Alison Pattie Ozren Polasek Neil Poulter Peter P Pramstaller Lluis Quintana-Murci Katri Räikkönen Sarju Ralhan Dabeeru C Rao Wouter van Rheenen Stephen S Rich Paul M Ridker Cornelius A Rietveld Antonietta Robino Frank J A van Rooij Daniela Ruggiero Yasaman Saba Charumathi Sabanayagam Maria Sabater-Lleal Cinzia Felicita Sala Veikko Salomaa Kevin Sandow Helena Schmidt Laura J Scott William R Scott Bahareh Sedaghati-Khayat Bengt Sennblad Jessica van Setten Peter J Sever Wayne H-H Sheu Yuan Shi Smeeta Shrestha Sharvari Rahul Shukla Jon K Sigurdsson Timo Tonis Sikka Jai Rup Singh Blair H Smith Alena Stančáková Alice Stanton John M Starr Lilja Stefansdottir Leon Straker Patrick Sulem Gardar Sveinbjornsson Morris A Swertz Adele M Taylor Kent D Taylor Natalie Terzikhan Yih-Chung Tham Gudmar Thorleifsson Unnur Thorsteinsdottir Annika Tillander Russell P Tracy Teresa Tusié-Luna Ioanna Tzoulaki Simona Vaccargiu Jagadish Vangipurapu Jan H Veldink Veronique Vitart Uwe Völker Eero Vuoksimaa Salma M Wakil Melanie Waldenberger Gurpreet S Wander Ya Xing Wang Nicholas J Wareham Sarah Wild Chittaranjan S Yajnik Jian-Min Yuan Lingyao Zeng Liang Zhang Jie Zhou Najaf Amin Folkert W Asselbergs Stephan J L Bakker Diane M Becker Benjamin Lehne David A Bennett Leonard H van den Berg Sonja I Berndt Dwaipayan Bharadwaj Lawrence F Bielak Murielle Bochud Mike Boehnke Claude Bouchard Jonathan P Bradfield Jennifer A Brody Archie Campbell Shai Carmi Mark J Caulfield David Cesarini John C Chambers Giriraj Ratan Chandak Ching-Yu Cheng Marina Ciullo Marilyn Cornelis Daniele Cusi George Davey Smith Ian J Deary Rajkumar Dorajoo Cornelia M van Duijn David Ellinghaus Jeanette Erdmann Johan G Eriksson Evangelos Evangelou Michele K Evans Jessica D Faul Bjarke Feenstra Mary Feitosa Sylvain Foisy Andre Franke Yechiel Friedlander Paolo Gasparini Christian Gieger Clicerio Gonzalez Philippe Goyette Struan F A Grant Lyn R Griffiths Leif Groop Vilmundur Gudnason Ulf Gyllensten Hakon Hakonarson Anders Hamsten Pim van der Harst Chew-Kiat Heng Andrew A Hicks Hagit Hochner Heikki Huikuri Steven C Hunt Vincent W V Jaddoe Philip L De Jager Magnus Johannesson Åsa Johansson Jost B Jonas J Wouter Jukema Juhani Junttila Jaakko Kaprio Sharon L R Kardia Fredrik Karpe Meena Kumari Markku Laakso Sander W van der Laan Jari Lahti Matthias Laudes Rodney A Lea Wolfgang Lieb Thomas Lumley Nicholas G Martin Winfried März Giuseppe Matullo Mark I McCarthy Sarah E Medland Tony R Merriman Andres Metspalu Brian F Meyer Karen L Mohlke Grant W Montgomery Dennis Mook-Kanamori Patricia B Munroe Kari E North Dale R Nyholt Jeffery R O'connell Carole Ober Albertine J Oldehinkel Walter Palmas Colin Palmer Gerard G Pasterkamp Etienne Patin Craig E Pennell Louis Perusse Patricia A Peyser Mario Pirastu Tinca J C Polderman David J Porteous Danielle Posthuma Bruce M Psaty John D Rioux Fernando Rivadeneira Charles Rotimi Jerome I Rotter Igor Rudan Hester M Den Ruijter Dharambir K Sanghera Naveed Sattar Reinhold Schmidt Matthias B Schulze Heribert Schunkert Robert A Scott Alan R Shuldiner Xueling Sim Neil Small Jennifer A Smith Nona Sotoodehnia E-Shyong Tai Alexander Teumer Nicholas J Timpson Daniela Toniolo David-Alexandre Tregouet Tiinamaija Tuomi Peter Vollenweider Carol A Wang David R Weir John B Whitfield Cisca Wijmenga Tien-Yin Wong John Wright Jingyun Yang Lei Yu Babette S Zemel Alan B Zonderman Markus Perola Patrik K E Magnusson André G Uitterlinden Jaspal S Kooner Daniel I Chasman Ruth J F Loos Nora Franceschini Lude Franke Chris S Haley Caroline Hayward Robin G Walters John R B Perry Tōnu Esko Agnar Helgason Kari Stefansson Peter K Joshi Michiaki Kubo James F Wilson

Nat Commun 2019 10 31;10(1):4957. Epub 2019 Oct 31.

Centre for Global Health Research, Usher Institute, University of Edinburgh, Edinburgh, EH8 9AG, Scotland.

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http://dx.doi.org/10.1038/s41467-019-12283-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6823371PMC
October 2019

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

Hear Res 2019 09 13;381:107769. Epub 2019 Jul 13.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy; University of Trieste, Department of Medicine, Surgery and Health Sciences, Trieste, Italy.

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http://dx.doi.org/10.1016/j.heares.2019.07.006DOI Listing
September 2019

Establishment and equilibrium levels of deleterious mutations in large populations.

Sci Rep 2019 07 17;9(1):10384. Epub 2019 Jul 17.

Institute for Cellular and Molecular Medicine, Department of Immunology, University of Pretoria, Pretoria, 0084, South Africa.

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http://dx.doi.org/10.1038/s41598-019-46803-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637196PMC
July 2019

Investigation of the link between PROP taste perception and vegetables consumption using FAOSTAT data.

Int J Food Sci Nutr 2019 Jun 10;70(4):484-490. Epub 2018 Oct 10.

a Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" , Trieste , Italy.

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https://www.tandfonline.com/doi/full/10.1080/09637486.2018.1
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http://dx.doi.org/10.1080/09637486.2018.1519527DOI Listing
June 2019

Investigation of genetic variation and lifestyle determinants in vitamin D levels in Arab individuals.

J Transl Med 2018 01 30;16(1):20. Epub 2018 Jan 30.

Out-Patient Clinic, 5th Floor, Sidra Medicine, Qatar Foundation, Al Luqta Street, Education City North Campus, PO Box 26999, Doha, Qatar.

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http://dx.doi.org/10.1186/s12967-018-1396-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791363PMC
January 2018

FineMAV: prioritizing candidate genetic variants driving local adaptations in human populations.

Genome Biol 2018 01 17;19(1). Epub 2018 Jan 17.

Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK.

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http://dx.doi.org/10.1186/s13059-017-1380-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771147PMC
January 2018

MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.

Rheumatol Int 2018 Jan 12;38(1):121-127. Epub 2017 Dec 12.

IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1007/s00296-017-3890-3DOI Listing
January 2018

A reference panel of 64,976 haplotypes for genotype imputation.

Authors:
Shane McCarthy Sayantan Das Warren Kretzschmar Olivier Delaneau Andrew R Wood Alexander Teumer Hyun Min Kang Christian Fuchsberger Petr Danecek Kevin Sharp Yang Luo Carlo Sidore Alan Kwong Nicholas Timpson Seppo Koskinen Scott Vrieze Laura J Scott He Zhang Anubha Mahajan Jan Veldink Ulrike Peters Carlos Pato Cornelia M van Duijn Christopher E Gillies Ilaria Gandin Massimo Mezzavilla Arthur Gilly Massimiliano Cocca Michela Traglia Andrea Angius Jeffrey C Barrett Dorrett Boomsma Kari Branham Gerome Breen Chad M Brummett Fabio Busonero Harry Campbell Andrew Chan Sai Chen Emily Chew Francis S Collins Laura J Corbin George Davey Smith George Dedoussis Marcus Dorr Aliki-Eleni Farmaki Luigi Ferrucci Lukas Forer Ross M Fraser Stacey Gabriel Shawn Levy Leif Groop Tabitha Harrison Andrew Hattersley Oddgeir L Holmen Kristian Hveem Matthias Kretzler James C Lee Matt McGue Thomas Meitinger David Melzer Josine L Min Karen L Mohlke John B Vincent Matthias Nauck Deborah Nickerson Aarno Palotie Michele Pato Nicola Pirastu Melvin McInnis J Brent Richards Cinzia Sala Veikko Salomaa David Schlessinger Sebastian Schoenherr P Eline Slagboom Kerrin Small Timothy Spector Dwight Stambolian Marcus Tuke Jaakko Tuomilehto Leonard H Van den Berg Wouter Van Rheenen Uwe Volker Cisca Wijmenga Daniela Toniolo Eleftheria Zeggini Paolo Gasparini Matthew G Sampson James F Wilson Timothy Frayling Paul I W de Bakker Morris A Swertz Steven McCarroll Charles Kooperberg Annelot Dekker David Altshuler Cristen Willer William Iacono Samuli Ripatti Nicole Soranzo Klaudia Walter Anand Swaroop Francesco Cucca Carl A Anderson Richard M Myers Michael Boehnke Mark I McCarthy Richard Durbin

Nat Genet 2016 10 22;48(10):1279-83. Epub 2016 Aug 22.

Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.

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http://dx.doi.org/10.1038/ng.3643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388176PMC
October 2016

Understanding the role of personality and alexithymia in food preferences and PROP taste perception.

Physiol Behav 2016 Apr 22;157:72-8. Epub 2016 Jan 22.

Department of Food Science, School of Environmental and Biological Sciences, Rutgers University, 65 Dudley Road, New Brunswick, NJ 08901, USA. Electronic address:

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http://dx.doi.org/10.1016/j.physbeh.2016.01.022DOI Listing
April 2016

Ancient DNA and the rewriting of human history: be sparing with Occam's razor.

Genome Biol 2016 Jan 11;17. Epub 2016 Jan 11.

The Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.

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http://dx.doi.org/10.1186/s13059-015-0866-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707776PMC
January 2016

Early modern human dispersal from Africa: genomic evidence for multiple waves of migration.

Investig Genet 2015 6;6:13. Epub 2015 Nov 6.

Department of Life Sciences and Biotechnologies, University of Ferrara, Ferrara, Italy.

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http://dx.doi.org/10.1186/s13323-015-0030-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4636834PMC
November 2015

Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations.

Eur J Hum Genet 2016 06 21;24(6):931-6. Epub 2015 Oct 21.

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK.

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http://dx.doi.org/10.1038/ejhg.2015.206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820045PMC
June 2016

The Kalash genetic isolate: ancient divergence, drift, and selection.

Am J Hum Genet 2015 May 30;96(5):775-83. Epub 2015 Apr 30.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.

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http://dx.doi.org/10.1016/j.ajhg.2015.03.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570283PMC
May 2015

Analysis of functional variants reveals new candidate genes associated with alexithymia.

Psychiatry Res 2015 Jun 27;227(2-3):363-5. Epub 2015 Mar 27.

Institute for Maternal and Child Health-IRCCS "Burlo Garofolo" - Trieste, Italy.

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http://dx.doi.org/10.1016/j.psychres.2015.03.018DOI Listing
June 2015

Genetic landscape of populations along the Silk Road: admixture and migration patterns.

BMC Genet 2014 Dec 5;15:131. Epub 2014 Dec 5.

Institute of Genetics and Biophysics 'A. Buzzati-Traverso', National Research Council (CNR), via Pietro Castellino 111, 80131, Naples, Italy.

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http://bmcgenet.biomedcentral.com/articles/10.1186/s12863-01
Publisher Site
http://dx.doi.org/10.1186/s12863-014-0131-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267745PMC
December 2014

Insights into the origin of rare haplogroup C3* Y chromosomes in South America from high-density autosomal SNP genotyping.

Forensic Sci Int Genet 2015 Mar 18;15:115-20. Epub 2014 Nov 18.

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2014.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312352PMC
March 2015

Consanguinity and hereditary hearing loss in Qatar.

Hum Hered 2014 29;77(1-4):175-82. Epub 2014 Jul 29.

Department of Medical Sciences, University of Trieste, Trieste, Italy.

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http://dx.doi.org/10.1159/000360475DOI Listing
March 2015

Insight into genetic determinants of resting heart rate.

Gene 2014 Jul 25;545(1):170-4. Epub 2014 Mar 25.

Cardiovascular Department, Ospedali Riuniti and University of Trieste, Trieste, Italy.

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http://dx.doi.org/10.1016/j.gene.2014.03.045DOI Listing
July 2014

A population-based approach to study the impact of PROP perception on food liking in populations along the Silk Road.

PLoS One 2014 13;9(3):e91716. Epub 2014 Mar 13.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy; University of Trieste, Trieste, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0091716PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953580PMC
December 2015

High variance in reproductive success generates a false signature of a genetic bottleneck in populations of constant size: a simulation study.

BMC Bioinformatics 2013 Oct 16;14:309. Epub 2013 Oct 16.

Department of Life Sciences and Biotechnology, University of Ferrara, via Borsari 46, Ferrara I-44121, Italy.

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http://dx.doi.org/10.1186/1471-2105-14-309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852946PMC
October 2013

Genetics of eye colours in different rural populations on the Silk Road.

Eur J Hum Genet 2013 Nov 13;21(11):1320-3. Epub 2013 Mar 13.

Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', Trieste, Italy.

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http://dx.doi.org/10.1038/ejhg.2013.41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798846PMC
November 2013