D
Daniela Toniolo
Researcher at Vita-Salute San Raffaele University
Publications - 224
Citations - 29071
Daniela Toniolo is an academic researcher from Vita-Salute San Raffaele University. The author has contributed to research in topics: Genome-wide association study & Gene. The author has an hindex of 78, co-authored 222 publications receiving 25644 citations. Previous affiliations of Daniela Toniolo include National Research Council & University of Iceland.
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Journal ArticleDOI
A reference panel of 64,976 haplotypes for genotype imputation
Shane A. McCarthy,Sayantan Das,Warren W. Kretzschmar,Olivier Delaneau,Andrew R. Wood,Alexander Teumer,Hyun Min Kang,Christian Fuchsberger,Petr Danecek,Kevin Sharp,Yang Luo,C Sidore,Alan Kwong,Nicholas J. Timpson,Seppo Koskinen,Scott I. Vrieze,Laura J. Scott,He Zhang,Anubha Mahajan,Jan H. Veldink,Ulrike Peters,Ulrike Peters,Carlos N. Pato,Cornelia M. van Duijn,Christopher E. Gillies,Ilaria Gandin,Massimo Mezzavilla,Arthur Gilly,Massimiliano Cocca,Michela Traglia,Andrea Angius,Jeffrey C. Barrett,D.I. Boomsma,Kari Branham,Gerome Breen,Gerome Breen,Chad M. Brummett,Fabio Busonero,Harry Campbell,Andrew T. Chan,Sai Chen,Emily Y. Chew,Francis S. Collins,Laura J Corbin,George Davey Smith,George Dedoussis,Marcus Dörr,Aliki-Eleni Farmaki,Luigi Ferrucci,Lukas Forer,Ross M. Fraser,Stacey Gabriel,Shawn Levy,Leif Groop,Leif Groop,Tabitha A. Harrison,Andrew T. Hattersley,Oddgeir L. Holmen,Kristian Hveem,Matthias Kretzler,James Lee,Matt McGue,Thomas Meitinger,David Melzer,Josine L. Min,Karen L. Mohlke,John B. Vincent,Matthias Nauck,Deborah A. Nickerson,Aarno Palotie,Aarno Palotie,Michele T. Pato,Nicola Pirastu,Melvin G. McInnis,J. Brent Richards,J. Brent Richards,Cinzia Sala,Veikko Salomaa,David Schlessinger,Sebastian Schoenherr,P. Eline Slagboom,Kerrin S. Small,Tim D. Spector,Dwight Stambolian,Marcus A. Tuke,Jaakko Tuomilehto,Leonard H. van den Berg,Wouter van Rheenen,Uwe Völker,Cisca Wijmenga,Daniela Toniolo,Eleftheria Zeggini,Paolo Gasparini,Matthew G. Sampson,James F. Wilson,Timothy M. Frayling,Paul I.W. de Bakker,Morris A. Swertz,Steven A. McCarroll,Charles Kooperberg,Annelot M. Dekker,David Altshuler,Cristen J. Willer,William G. Iacono,Samuli Ripatti,Nicole Soranzo,Nicole Soranzo,Klaudia Walter,Anand Swaroop,Francesco Cucca,Carl A. Anderson,Richard M. Myers,Michael Boehnke,Mark I. McCarthy,Mark I. McCarthy,Richard Durbin,Gonçalo R. Abecasis,Jonathan Marchini +117 more
TL;DR: A reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies.
Journal ArticleDOI
Modulation of genetic associations with serum urate levels by body-mass-index in humans
Jennifer E. Huffman,Eva Albrecht,Alexander Teumer,Massimo Mangino,Karen Kapur,Toby Johnson,Z. Kutalik,Nicola Pirastu,Giorgio Pistis,Lorna M. Lopez,Toomas Haller,Perttu Salo,Anuj Goel,Man Li,Toshiko Tanaka,Abbas Dehghan,Daniela Ruggiero,Giovanni Malerba,Albert V. Smith,Ilja M. Nolte,Laura Portas,Amanda Phipps-Green,Lora Boteva,Pau Navarro,Åsa Johansson,Andrew A. Hicks,Ozren Polasek,Tõnu Esko,John F. Peden,Sarah E. Harris,Federico Murgia,Sarah H. Wild,Albert Tenesa,Adrienne Tin,Evelin Mihailov,Anne Grotevendt,Gauti Kjartan Gislason,Josef Coresh,Pio D'Adamo,Sheila Ulivi,Peter Vollenweider,Gérard Waeber,Susan Campbell,Ivana Kolcic,Krista Fisher,Margus Viigimaa,Jeffrey Metter,Corrado Masciullo,Elisabetta Trabetti,Cristina Bombieri,Rossella Sorice,Angela Doering,Eva Reischl,Konstantin Strauch,Albert Hofman,André G. Uitterlinden,Melanie Waldenberger,H-Erich Wichmann,Gail Davies,Alan J. Gow,Nicola Dalbeth,Lisa K. Stamp,Johannes H. Smit,Mirna Kirin,Ramaiah Nagaraja,Matthias Nauck,Claudia Schurmann,Kathrin Budde,Susan M. Farrington,Evropi Theodoratou,Antti Jula,Veikko Salomaa,Cinzia Sala,Christian Hengstenberg,Michel Burnier,R Maegi,Norman Klopp,Stefan Kloiber,Sabine Schipf,Samuli Ripatti,Stefano Cabras,Nicole Soranzo,Georg Homuth,Teresa Nutile,Patricia B. Munroe,Nicholas D. Hastie,Harry Campbell,Igor Rudan,Claudia P. Cabrera,Chris Haley,Oscar H. Franco,Tony R. Merriman,Vilmundur Gudnason,Mario Pirastu,Brenda W.J.H. Penninx,Brenda W.J.H. Penninx,Harold Snieder,Andres Metspalu,Marina Ciullo,Peter P. Pramstaller,Cornelia M. van Duijn,Luigi Ferrucci,Giovanni Gambaro,Ian J. Deary,Malcolm G. Dunlop,James F. Wilson,Paolo Gasparini,Ulf Gyllensten,Tim D. Spector,Alan F. Wright,Caroline Hayward,Hugh Watkins,Markus Perola,Murielle Bochud,W. H. Linda Kao,Mark J. Caulfield,Daniela Toniolo,Henry Voelzke,Christian Gieger,Anna Koettgen,Veronique Vitart +120 more
TL;DR: Interactions between body mass index (BMI) and common genetic variants affecting serum urate levels, genome-wide, and regression-type analyses in a non BMI-stratified overall sample suggested a role for N-glycan biosynthesis as a prominent urate-associated pathway in the lean stratum.
Journal ArticleDOI
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Gisèle Bonne,M R Di Barletta,S. Varnous,H.M. Bécane,EL-Hadi Hammouda,Luciano Merlini,Francesco Muntoni,Cheryl R. Greenberg,Françoise Gary,Jon Andoni Urtizberea,Denis Duboc,Michel Fardeau,Daniela Toniolo,Ketty Schwartz +13 more
TL;DR: This work has mapped the locus for EDMD-AD to an 8-cM interval on chromosome 1q11-q23 in a large French pedigree, and found that the EMD phenotype in four other small families was potentially linked to this locus, and identified four mutations in LMNA that co-segregate with the disease phenotype in the five families.
A reference panel of 64,976 haplotypes for genotype imputation
Shane A. McCarthy,Sayantan Das,Warren W. Kretzschmar,Olivier Delaneau,Andrew R. Wood,Alexander Teumer,Hyun Min Kang,Christian Fuchsberger,Petr Danecek,Kevin Sharp,Yang Luo,Carlo Sidorel,Alan Kwong,Nicholas J. Timpson,Seppo Koskinen,Scott I. Vrieze,Laura J. Scott,He Zhang,Anubha Mahajan,Jan H. Veldink,Ulrike Peters,Carlos N. Pato,Cornelia M. van Duijn,Christopher E. Gillies,Ilaria Gandin,Massimo Mezzavilla,Arthur Gilly,Massimiliano Cocca,Michela Traglia,Andrea Angius,Jeffrey C. Barrett,D.I. Boomsma,Kari Branham,Gerome Breen,Chad M. Brummett,Fabio Busonero,Harry Campbell,Andrew T. Chan,Sai Che,Emily Y. Chew,Francis S. Collins,Laura J Corbin,George Davey Smith,George Dedoussis,Marcus Dörr,Aliki-Eleni Farmaki,Luigi Ferrucci,Lukas Forer,Ross M. Fraser,Stacey Gabriel,Shawn Levy,Leif Groop,Tabitha A. Harrison,Andrew T. Hattersley,Oddgeir L. Holmen,Kristian Hveem,Matthias Kretzler,James Lee,Matt McGue,Thomas Meitinger,David Melzer,Josine L. Min,Karen L. Mohlke,John B. Vincent,Matthias Nauck,Deborah A. Nickerson,Aarno Palotie,Michele T. Pato,Nicola Pirastu,Melvin G. McInnis,J. Brent Richards,Cinzia Sala,Veikko Salomaa,David Schlessinger,Sebastian Schoenherr,P. Eline Slagboom,Kerrin S. Small,Tim D. Spector,Dwight Stambolian,Marcus A. Tuke,Jaakko Tuomilehto,Leonard H. van den Berg,Wouter van Rheenen,Uwe Völker,Cisca Wijmenga,Daniela Toniolo,Eleftheria Zeggini,Paolo Gasparini,Matthew G. Sampson,James F. Wilson,Timothy M. Frayling,Paul I.W. de Bakker,Morris A. Swertz,Steven A. McCarroll,Charles Kooperberg,Annelot M. Dekker,David Altshuler,Cristen J. Willer,William G. Iacono,Samuli Ripatti,Nicole Soranzo,Klaudia Walter,Anand Swaroop,Francesco Cucca,Carl A. Anderson,Richard M. Myers,Michael Boehnke,Mark I. McCarthy,Richard Durbin,Gonçalo R. Abecasis,Jonathan Marchini +110 more
TL;DR: In this article, a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry is presented.
Journal ArticleDOI
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.
Silvia Bione,Elena Maestrini,Stefano Rivella,Mita Mancini,Stefano Regis,Giovanni Romeo,Daniela Toniolo +6 more
TL;DR: In all five patients studied, unique mutations in one of the genes, STA: these mutations result in the loss of all or part of the protein are reported.