Home/People/Francesco Cucca
Francesco Cucca 2018-03-19T08:16:20+00:00

Francesco Cucca

Director

H-index – January 2018 – : 54 (Scopus) 61 (Google scholar)

Education:

1977 – 1984 University of Cagliari Medical School, Italy: degree of M.D. with honours
1985 – 1989 Specialization in Paediatrics, University of Cagliari, with honours

Current position:

2011 – present Full Professor of Medical Genetics, University of Sassari, Italy
2009 – present Director of the Institute for Research in Genetics and Biomedicine (IRGB), of the National Research Council (CNR), Italy

Previous positions:

2005 – 2010 Associate Professor of Medical Genetics, University of Sassari, Italy
1998 – 2004 Assistant Professor in Pediatrics, Department of Biomedical Science and Biotechnology, University of Cagliari, Italy
1991 – 1993 Attending Pediatrician, Pediatrics Unit, Brotzu Hospital, Cagliari, Italy

Fellowships:

1994 – 1997 Postdoctoral fellow at the Nuffield Department of Surgery, Wellcome Trust Centre for Human Genetics, University of Oxford, UK, in the Laboratory of John A. Todd

Institutional responsibilities:

  • During the last 15 years I have served as reviewer for various scientific journals like Diabetes, Lancet Neurology, European Journal of Human Genetics, Human Molecular Genetics, American Journal of Human Genetics and Nature Genetics where, because of time constraints, I have concentrated most of my reviewer activity in the last few years.
  • I have been a member of the steering committee of the FISM (Italian Multiple Sclerosis Foundation) for many years (from 2010 to 2013).

Major collaborations:

A strategic asset for increasing the critical mass and improving the quality of our research activities in Sardinia have been international collaborations I have set up with leading scientists in the fields of functional genetics. To name the main ones:

On-going Grants of which I am the principal investigator/coordinator:

Project Title Funding source Amount Period
Longitudinal studies for Age Associated Conditions in a Sardinia Population Cohort National Institute of Health (USA) $ 4.345.690 2016-2021
Elucidation of BAFF role in Multiple Sclerosis onset. Fondazione Italiana Sclerosi Multipla (FISM) € 240.000 2015-2019
ImmunoAgeing – An integrated approach to dissect determinants, risk factors and pathways of ageing of the immune system EU H2020 € 2.514.063 2015-2019
Utility of omic-based biomarkers in characterizing older individuals at risk for frailty, its progression to disability and general consequences to health and well-being Frailomic € 254.375 2014-2018
NEOGENIA – A pilot study of neonatal genetic screening in the Ogliastra population Sardegna Ricerche € 360.000 2013-2018
Ageing: molecular innovations for heath improvement of the elderly. National Research Council Italy € 1.339.000 2011-2018

Most significant publications:

My research activity includes 184 peer reviewed work (see https://orcid.org/0000-0002-7414-1995) with a total H-index (Scopus) of 54 (January 2018). Below are reported my 10 more significant publications in the last 5 years, and my 10 more significant publications in the previous years

Olivieri, Anna; Sidore, Carlo; Achilli, Alessandro; Angius, Andrea; Posth, Cosimo; ä, Anja Furtw; Brandini, Stefania; Capodiferro, Marco Rosario; Gandini, Francesca; Zoledziewska, Magdalena; Pitzalis, Maristella; Maschio, Andrea; Busonero, Fabio; Lai, Luca; Skeates, Robin; Gradoli, Maria Giuseppina; Beckett, Jessica; Marongiu, Michele; Mazzarello, Vittorio; Marongiu, Patrizia; Rubino, Salvatore; Rito, Teresa; Macaulay, Vincent; Semino, Ornella; Pala, Maria; ç, Gon; Schlessinger, David; Conde-Sousa, Eduardo; Soares, Pedro; Richards, Martin B; Cucca, Francesco; Torroni, Antonio

Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past Journal Article

Molecular Biology and Evolution, 34 (5), pp. 1230–1239, 2017, ISSN: 1537-1719.

Abstract | Links | BibTeX

Pala, Mauro; Zappala, Zachary; Marongiu, Mara; Li, Xin; Davis, Joe R; Cusano, Roberto; Crobu, Francesca; Kukurba, Kimberly R; Gloudemans, Michael J; Reinier, Frederic; Berutti, Riccardo; Piras, Maria G; Mulas, Antonella; Zoledziewska, Magdalena; Marongiu, Michele; Sorokin, Elena P; Hess, Gaelen T; Smith, Kevin S; Busonero, Fabio; Maschio, Andrea; Steri, Maristella; Sidore, Carlo; Sanna, Serena; Fiorillo, Edoardo; Bassik, Michael C; Sawcer, Stephen J; Battle, Alexis; Novembre, John; Jones, Chris; Angius, Andrea; ç, Gon; Schlessinger, David; Cucca, Francesco; Montgomery, Stephen B

Population- and individual-specific regulatory variation in Sardinia Journal Article

Nature Genetics, 49 (5), pp. 700–707, 2017, ISSN: 1546-1718.

Abstract | Links | BibTeX

Steri, Maristella; Orrù, Valeria; Idda, Laura M; Pitzalis, Maristella; Pala, Mauro; Zara, Ilenia; Sidore, Carlo; Faà, Valeria; Floris, Matteo; Deiana, Manila; Asunis, Isadora; Porcu, Eleonora; Mulas, Antonella; Piras, Maria G; Lobina, Monia; Lai, Sandra; Marongiu, Mara; Serra, Valentina; Marongiu, Michele; Sole, Gabriella; Busonero, Fabio; Maschio, Andrea; Cusano, Roberto; Cuccuru, Gianmauro; Deidda, Francesca; Poddie, Fausto; Farina, Gabriele; Dei, Mariano; Virdis, Francesca; Olla, Stefania; Satta, Maria A; Pani, Mario; Delitala, Alessandro; Cocco, Eleonora; Frau, Jessica; Coghe, Giancarlo; Lorefice, Lorena; Fenu, Giuseppe; Ferrigno, Paola; Ban, Maria; Barizzone, Nadia; Leone, Maurizio; Guerini, Franca R; Piga, Matteo; Firinu, Davide; Kockum, Ingrid; Lima Bomfim, Izaura ; Olsson, Tomas; Alfredsson, Lars; Suarez, Ana; Carreira, Patricia E; Castillo-Palma, Maria J; Marcus, Joseph H; Congia, Mauro; Angius, Andrea; Melis, Maurizio; Gonzalez, Antonio; ó}n Riquelme, Marta {Alarc E; da Silva, Berta M; Marchini, Maurizio; Danieli, Maria G; Del Giacco, Stefano ; Mathieu, Alessandro; Pani, Antonello; Montgomery, Stephen B; Rosati, Giulio; Hillert, Jan; Sawcer, Stephen; D'Alfonso, Sandra; Todd, John A; Novembre, John; ç, Gon; Whalen, Michael B; Marrosu, Maria G; Meloni, Alessandra; Sanna, Serena; Gorospe, Myriam; Schlessinger, David; Fiorillo, Edoardo; Zoledziewska, Magdalena; Cucca, Francesco

Overexpression of the Cytokine BAFF and Autoimmunity Risk Journal Article

The New England Journal of Medicine, 376 (17), pp. 1615–1626, 2017, ISSN: 1533-4406, (See Editorials, Korn T, Oukka M. A BAFFling Association between Malaria Resistance and the Risk of Multiple Sclerosis. N Engl J Med. 2017 Apr 27;376(17):1680-1681. doi: 10.1056/NEJMe1700720.; Stohl W., Systemic lupus erythematosus: BAFF emerges from the genetic shadows. Nat Rev Rheumatol. 2017 Jun 15. doi: 10.1038/nrrheum.2017.99; Comabella M. Neuroimmunology: B cells and variant BAFF in autoimmune disease. Nat Rev Neurol. 2017 Jun 16. doi: 10.1038/nrneurol.2017.87.).

Abstract | Links | BibTeX

Sidore, Carlo; Busonero, Fabio; Maschio, Andrea; Porcu, Eleonora; Naitza, Silvia; Zoledziewska, Magdalena; Mulas, Antonella; Pistis, Giorgio; Steri, Maristella; Danjou, Fabrice; Kwong, Alan; Ortega Del Vecchyo, Vicente Diego ; Chiang, Charleston W K; Bragg-Gresham, Jennifer; Pitzalis, Maristella; Nagaraja, Ramaiah; Tarrier, Brendan; Brennan, Christine; Uzzau, Sergio; Fuchsberger, Christian; Atzeni, Rossano; Reinier, Frederic; Berutti, Riccardo; Huang, Jie; Timpson, Nicholas J; Toniolo, Daniela; Gasparini, Paolo; Malerba, Giovanni; Dedoussis, George; Zeggini, Eleftheria; Soranzo, Nicole; Jones, Chris; Lyons, Robert; Angius, Andrea; Kang, Hyun M; Novembre, John; Sanna, Serena; Schlessinger, David; Cucca, Francesco; ç, Gon

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers Journal Article

Nature Genetics, 47 (11), pp. 1272–1281, 2015, ISSN: 1546-1718.

Abstract | Links | BibTeX

Danjou, Fabrice; Zoledziewska, Magdalena; Sidore, Carlo; Steri, Maristella; Busonero, Fabio; Maschio, Andrea; Mulas, Antonella; Perseu, Lucia; Barella, Susanna; Porcu, Eleonora; Pistis, Giorgio; Pitzalis, Maristella; Pala, Mauro; Menzel, Stephan; Metrustry, Sarah; Spector, Timothy D; Leoni, Lidia; Angius, Andrea; Uda, Manuela; Moi, Paolo; Thein, Swee Lay; Galanello, Renzo; ç, Gon; Schlessinger, David; Sanna, Serena; Cucca, Francesco

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels Journal Article

Nature Genetics, 47 (11), pp. 1264–1271, 2015, ISSN: 1546-1718.

Abstract | Links | BibTeX

Zoledziewska, Magdalena; Sidore, Carlo; Chiang, Charleston W K; Sanna, Serena; Mulas, Antonella; Steri, Maristella; Busonero, Fabio; Marcus, Joseph H; Marongiu, Michele; Maschio, Andrea; Del Vecchyo, Diego Ortega ; Floris, Matteo; Meloni, Antonella; Delitala, Alessandro; Concas, Maria Pina; Murgia, Federico; Biino, Ginevra; Vaccargiu, Simona; Nagaraja, Ramaiah; Lohmueller, Kirk E; Consortium, UK10K; Timpson, Nicholas J; Soranzo, Nicole; Tachmazidou, Ioanna; Dedoussis, George; Zeggini, Eleftheria; Group, Understanding Society Scientific; Uzzau, Sergio; Jones, Chris; Lyons, Robert; Angius, Andrea; ç, Gon; Novembre, John; Schlessinger, David; Cucca, Francesco

Height-reducing variants and selection for short stature in Sardinia Journal Article

Nature Genetics, 47 (11), pp. 1352–1356, 2015, ISSN: 1546-1718.

Abstract | Links | BibTeX

Orrù, Valeria; Steri, Maristella; Sole, Gabriella; Sidore, Carlo; Virdis, Francesca; Dei, Mariano; Lai, Sandra; Zoledziewska, Magdalena; Busonero, Fabio; Mulas, Antonella; Floris, Matteo; Mentzen, Wieslawa I; Urru, Silvana A M; Olla, Stefania; Marongiu, Michele; Piras, Maria G; Lobina, Monia; Maschio, Andrea; Pitzalis, Maristella; Urru, Maria F; Marcelli, Marco; Cusano, Roberto; Deidda, Francesca; Serra, Valentina; Oppo, Manuela; Pilu, Rosella; Reinier, Frederic; Berutti, Riccardo; Pireddu, Luca; Zara, Ilenia; Porcu, Eleonora; Kwong, Alan; Brennan, Christine; Tarrier, Brendan; Lyons, Robert; Kang, Hyun M; Uzzau, Sergio; Atzeni, Rossano; Valentini, Maria; Firinu, Davide; Leoni, Lidia; Rotta, Gianluca; Naitza, Silvia; Angius, Andrea; Congia, Mauro; Whalen, Michael B; Jones, Chris M; Schlessinger, David; ç, Gon; Fiorillo, Edoardo; Sanna, Serena; Cucca, Francesco

Genetic variants regulating immune cell levels in health and disease. Journal Article

Cell, 155 (1), pp. 242–56, 2013, ISSN: 1097-4172.

Abstract | Links | BibTeX

Francalacci, Paolo; Morelli, Laura; Angius, Andrea; Berutti, Riccardo; Reinier, Frederic; Atzeni, Rossano; Pilu, Rosella; Busonero, Fabio; Maschio, Andrea; Zara, Ilenia; Sanna, Daria; Useli, Antonella; Urru, Maria Francesca; Marcelli, Marco; Cusano, Roberto; Oppo, Manuela; Zoledziewska, Magdalena; Pitzalis, Maristella; Deidda, Francesca; Porcu, Eleonora; Poddie, Fausto; Kang, Hyun Min; Lyons, Robert; Tarrier, Brendan; Gresham, Jennifer Bragg; Li, Bingshan; Tofanelli, Sergio; Alonso, Santos; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Whalen, Michael B; Uzzau, Sergio; Jones, Chris; Schlessinger, David; ç, Gon; Sanna, Serena; Sidore, Carlo; Cucca, Francesco

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny Journal Article

Science (New York, N.Y.), 341 (6145), pp. 565–569, 2013, ISSN: 1095-9203.

Abstract | Links | BibTeX

Naitza, Silvia ; Porcu, Eleonora ; Steri, Maristella ; Taub, Dennis D; Mulas, Antonella ; Xiao, Xiang ; Strait, James ; Dei, Mariano ; Lai, Sandra ; Busonero, Fabio ; Maschio, Andrea ; Usala, Gianluca ; Zoledziewska, Magdalena ; Sidore, Carlo ; Zara, Ilenia ; Pitzalis, Maristella ; Loi, Alessia ; Virdis, Francesca ; Piras, Roberta ; Deidda, Francesca ; Whalen, Michael B; Crisponi, Laura ; Concas, Antonio ; Podda, Carlo ; Uzzau, Sergio ; Scheet, Paul ; Longo, Dan L; Lakatta, Edward ; Abecasis, Gon{ç}alo R; Cao, Antonio ; Schlessinger, David ; Uda, Manuela ; Sanna, Serena ; Cucca, Francesco

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. Journal Article

PLoS genetics, 8 (1), pp. e1002480, 2012, ISSN: 1553-7404.

Abstract | Links | BibTeX

Sanna, Serena ; Pitzalis, Maristella ; Zoledziewska, Magdalena ; Zara, Ilenia ; Sidore, Carlo ; Murru, Raffaele ; Whalen, Michael B; Busonero, Fabio ; Maschio, Andrea ; Costa, Gianna ; Melis, Maria Cristina ; Deidda, Francesca ; Poddie, Fausto ; Morelli, Laura ; Farina, Gabriele ; Li, Yun ; Dei, Mariano ; Lai, Sandra ; Mulas, Antonella ; Cuccuru, Gianmauro ; Porcu, Eleonora ; Liang, Liming ; Zavattari, Patrizia ; Moi, Loredana ; Deriu, Elisa ; Urru, Francesca M; Bajorek, Michele ; Satta, Maria Anna ; Cocco, Eleonora ; Ferrigno, Paola ; Sotgiu, Stefano ; Pugliatti, Maura ; Traccis, Sebastiano ; Angius, Andrea ; Melis, Maurizio ; Rosati, Giulio ; Abecasis, Gon{ç}alo R; Uda, Manuela ; Marrosu, Maria Giovanna ; Schlessinger, David ; Cucca, Francesco

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Journal Article

Nature genetics, 42 (6), pp. 495–7, 2010, ISSN: 1546-1718.

Abstract | Links | BibTeX

Zoledziewska, M; Costa, G; Pitzalis, M; Cocco, E; Melis, C; Moi, L; Zavattari, P; Murru, R; Lampis, R; Morelli, L; Poddie, F; Frongia, P; Pusceddu, P; Bajorek, M; Marras, A; Satta, A M; Chessa, A; Pugliatti, M; Sotgiu, S; Whalen, M B; Rosati, G; Cucca, F; Marrosu, M G

Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia. Journal Article

Genes and immunity, 10 (1), pp. 15–7, 2009, ISSN: 1476-5470.

Abstract | Links | BibTeX

Zoledziewska, Magdalena ; Perra, Chiara ; Orr{ù}, Valeria ; Moi, Loredana ; Frongia, Paola ; Congia, Mauro ; Bottini, Nunzio ; Cucca, Francesco

Further evidence of a primary, causal association of the PTPN22 620W variant with type 1 diabetes. Journal Article

Diabetes, 57 (1), pp. 229–34, 2008, ISSN: 1939-327X.

Abstract | Links | BibTeX

Bottini, Nunzio ; Vang, Torkel ; Cucca, Francesco ; Mustelin, Tomas

Role of PTPN22 in type 1 diabetes and other autoimmune diseases Journal Article

Seminars in Immunology, 18 (4), pp. 207–213, 2006, ISSN: 10445323.

Abstract | Links | BibTeX

Vang, Torkel ; Congia, Mauro ; Macis, Maria Doloretta ; Musumeci, Lucia ; Orr{ú}, Valeria ; Zavattari, Patrizia ; Nika, Konstantina ; Tautz, Lutz ; Task{é}n, Kjetil ; Cucca, Francesco ; Mustelin, Tomas ; Bottini, Nunzio

Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Journal Article

Nature genetics, 37 (12), pp. 1317–9, 2005, ISSN: 1061-4036.

Abstract | Links | BibTeX

Marrosu, Maria Giovanna ; Motzo, Costantino ; Murru, Raffaele ; Lampis, Rosanna ; Costa, Gianna ; Zavattari, Patrizia ; Contu, Daniela ; Fadda, Elisabetta ; Cocco, Eleonora ; Cucca, Francesco

The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone. Journal Article

Human molecular genetics, 13 (23), pp. 2919–24, 2004, ISSN: 0964-6906.

Abstract | Links | BibTeX

Contu, Daniela ; Morelli, Laura ; Zavattari, Patrizia ; Lampis, Rosanna ; Angius, Efisio ; Frongia, Paola ; Murru, Daniela ; Maioli, Mario ; Francalacci, Paolo ; Todd, John A; Cucca, Francesco

Sex-related bias and exclusion mapping of the nonrecombinant portion of chromosome Y in human type 1 diabetes in the isolated founder population of Sardinia. Journal Article

Diabetes, 51 (12), pp. 3573–3576, 2002, ISSN: 0012-1797 0012-1797.

Abstract | BibTeX

Marrosu, M G; Murru, R; Murru, M R; Costa, G; Zavattari, P; Whalen, M; Cocco, E; Mancosu, C; Schirru, L; Solla, E; Fadda, E; Melis, C; Porru, I; Rolesu, M; Cucca, F

Dissection of the HLA association with multiple sclerosis in the founder isolated population of Sardinia. Journal Article

Human molecular genetics, 10 (25), pp. 2907–16, 2001, ISSN: 0964-6906.

Abstract | Links | BibTeX

Cucca, F; Dudbridge, F; Loddo, M; Mulargia, A P; Lampis, R; Angius, E; {De Virgiliis}, S; Koeleman, B P; Bain, S C; Barnett, A H; Gilchrist, F; Cordell, H; Welsh, K; Todd, J A

The HLA-DPB1--associated component of the IDDM1 and its relationship to the major loci HLA-DQB1, -DQA1, and -DRB1. Journal Article

Diabetes, 50 (5), pp. 1200–5, 2001, ISSN: 0012-1797.

Abstract | Links | BibTeX

Zavattari, P; Lampis, R; Motzo, C; Loddo, M; Mulargia, A; Whalen, M; Maioli, M; Angius, E; Todd, J A; Cucca, F

Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1, -DRB1 disease loci. Journal Article

Human molecular genetics, 10 (8), pp. 881–9, 2001, ISSN: 0964-6906.

Abstract | Links | BibTeX

Cucca, F; Lampis, R; Congia, M; Angius, E; Nutland, S; Bain, S C; Barnett, A H; Todd, J A

A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins. Journal Article

Hum Mol Genet, 10 (19), pp. 2025–2037, 2001, ISSN: 0964-6906 0964-6906.

Abstract | BibTeX

Zavattari, P; Lampis, R; Mulargia, A; Loddo, M; Angius, E; Todd, J A; Cucca, F

Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia. Journal Article

Human molecular genetics, 9 (20), pp. 2967–72, 2000, ISSN: 0964-6906.

Abstract | Links | BibTeX

Zavattari, P; Deidda, E; Whalen, M; Lampis, R; Mulargia, A; Loddo, M; Eaves, I; Mastio, G; Todd, J A; Cucca, F

Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: demography, chromosome recombination frequency and selection. Journal Article

Human molecular genetics, 9 (20), pp. 2947–57, 2000, ISSN: 0964-6906.

Abstract | Links | BibTeX

Lampis, R; Morelli, L; Congia, M; Macis, M D; Mulargia, A; Loddo, M; {De Virgiliis}, S; Marrosu, M G; Todd, J A; Cucca, F

The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases. Journal Article

Human molecular genetics, 9 (20), pp. 2959–65, 2000, ISSN: 0964-6906.

Abstract | Links | BibTeX

Eaves, I A; Merriman, T R; Barber, R A; Nutland, S; Tuomilehto-Wolf, E; Tuomilehto, J; Cucca, F; Todd, J A

The genetically isolated populations of Finland and sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes. Journal Article

Nat Genet, 25 (3), pp. 320–323, 2000, ISSN: 1061-4036 1061-4036.

Abstract | Links | BibTeX

Cucca, F; Esposito, L; Goy, J V; Merriman, M E; Wilson, A J; Reed, P W; Bain, S C; Todd, J A

Investigation of linkage of chromosome 8 to type 1 diabetes: multipoint analysis and exclusion mapping of human chromosome 8 in 593 affected sib-pair families from the U.K. and U.S. Journal Article

Diabetes, 47 (9), pp. 1525–7, 1998, ISSN: 0012-1797.

Links | BibTeX

Marrosu, M G; Murru, M R; Costa, G; Murru, R; Muntoni, F; Cucca, F

DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population. Journal Article

Human molecular genetics, 7 (8), pp. 1235–7, 1998, ISSN: 0964-6906.

Abstract | Links | BibTeX

Cucca, F; Goy, J V; Kawaguchi, Y; Esposito, L; Merriman, M E; Wilson, A J; Cordell, H J; Bain, S C; Todd, J A

A male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC HLA-DR3-positive patients. Journal Article

Nature genetics, 19 (3), pp. 301–2, 1998, ISSN: 1061-4036.

Abstract | Links | BibTeX

Cucca, F; Lampis, R; Frau, F; Macis, D; Angius, E; Masile, P; Chessa, M; Frongia, P; Silvetti, M; Cao, A; {De Virgiliis}, S; Congia, M

The distribution of DR4 haplotypes in Sardinia suggests a primary association of type I diabetes with DRB1 and DQB1 loci. Journal Article

Human immunology, 43 (4), pp. 301–8, 1995, ISSN: 0198-8859.

Abstract | Links | BibTeX

Copeman, J B; Cucca, F; Hearne, C M; Cornall, R J; Reed, P W; R{ø}nningen, K S; Undlien, D E; Nistic{ò}, L; Buzzetti, R; Tosi, R; Pociot, F; Nerup, J; Corn{é}lis, F; Barnett, A H; Bain, S C; Todd, J A

Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM7) to chromosome 2q31–q33 Journal Article

Nature Genetics, 9 (1), pp. 80–85, 1995, ISSN: 1061-4036.

Abstract | Links | BibTeX

2018

Angius, A; Cossu, S; Uva, P; Oppo, M; Onano, S; Persico, I; Fotia, G; Atzeni, R; Cuccuru, G; Asunis, M; Cucca, F; Pruna, D; Crisponi, L

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome. Journal Article

Clin Genet, 2018, ISSN: 1399-0004 0009-9163.

Abstract | Links | BibTeX

2017

Piras, Doloretta ; Zoledziewska, Magdalena ; Cucca, Francesco ; Pani, Antonello

Genome-Wide Analysis Studies and Chronic Kidney Disease. Journal Article

Kidney Dis (Basel), 3 (3), pp. 106–110, 2017, ISSN: 2296-9381 2296-9357.

Abstract | Links | BibTeX

Iuculano, Ambra ; Stagnati, Valentina ; Serrenti, Marianna ; Peddes, Cristina ; Monni, Giovanni ; Sole, Gabriella ; Cucca, Francesco

Crown-rump length: are they different or similar after homologous vs heterologous oocyte/embryo donation? Journal Article

Am J Obstet Gynecol, 217 (2), pp. 224–225, 2017, ISSN: 1097-6868 0002-9378.

Links | BibTeX

Boger, Carsten A; Gorski, Mathias ; McMahon, Gearoid M; Xu, Huichun ; Chang, Yen-Pei C; van der Most, Peter J; Navis, Gerjan ; Nolte, Ilja M; de Borst, Martin H; Zhang, Weihua ; Lehne, Benjamin ; Loh, Marie ; Tan, Sian-Tsung ; Boerwinkle, Eric ; Grams, Morgan E; Sekula, Peggy ; Li, Man ; Wilmot, Beth ; Moon, James G; Scheet, Paul ; Cucca, Francesco ; Xiao, Xiangjun ; Lyytikainen, Leo-Pekka ; Delgado, Graciela ; Grammer, Tanja B; Kleber, Marcus E; Sedaghat, Sanaz ; Rivadeneira, Fernando ; Corre, Tanguy ; Kutalik, Zoltan ; Bergmann, Sven ; Nielson, Carrie M; Srikanth, Priya ; Teumer, Alexander ; Muller-Nurasyid, Martina ; Brockhaus, Anne Catharina ; Pfeufer, Arne ; Rathmann, Wolfgang ; Peters, Annette ; Matsumoto, Martha ; de Andrade, Mariza ; Atkinson, Elizabeth J; Robinson-Cohen, Cassianne ; de Boer, Ian H; Hwang, Shih-Jen ; Heid, Iris M; Gogele, Martin ; Concas, Maria Pina ; Tanaka, Toshiko ; Bandinelli, Stefania ; Nalls, Mike A; Singleton, Andrew ; Tajuddin, Salman M; Adeyemo, Adebowale ; Zhou, Jie ; Doumatey, Ayo ; McWeeney, Shannon ; Murabito, Joanne ; Franceschini, Nora ; Flessner, Michael ; Shlipak, Michael ; Wilson, James G; Chen, Guanjie ; Rotimi, Charles N; Zonderman, Alan B; Evans, Michele K; Ferrucci, Luigi ; Devuyst, Olivier ; Pirastu, Mario ; Shuldiner, Alan ; Hicks, Andrew A; Pramstaller, Peter Paul ; Kestenbaum, Bryan ; Kardia, Sharon L R; Turner, Stephen T; Study, LifeLines Cohort ; Briske, Tamara Ellefson ; Gieger, Christian ; Strauch, Konstantin ; Meisinger, Christa ; Meitinger, Thomas ; Volker, Uwe ; Nauck, Matthias ; Volzke, Henry ; Vollenweider, Peter ; Bochud, Murielle ; Waeber, Gerard ; Kahonen, Mika ; Lehtimaki, Terho ; Marz, Winfried ; Dehghan, Abbas ; Franco, Oscar H; Uitterlinden, Andre G; Hofman, Albert ; Taylor, Herman A; Chambers, John C; Kooner, Jaspal S; Fox, Caroline S; Hitzemann, Robert ; Orwoll, Eric S; Pattaro, Cristian ; Schlessinger, David ; Kottgen, Anna ; Snieder, Harold ; Parsa, Afshin ; Cohen, David M

NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. Journal Article

J Am Soc Nephrol, 28 (8), pp. 2311–2321, 2017, ISSN: 1533-3450 1046-6673.

Abstract | Links | BibTeX

Tanca, Alessandro ; Abbondio, Marcello ; Palomba, Antonio ; Fraumene, Cristina ; Manghina, Valeria ; Cucca, Francesco ; Fiorillo, Edoardo ; Uzzau, Sergio

Potential and active functions in the gut microbiota of a healthy human cohort. Journal Article

Microbiome, 5 (1), pp. 79, 2017, ISSN: 2049-2618 2049-2618.

Abstract | Links | BibTeX

Tachmazidou, Ioanna ; Suveges, Daniel ; Min, Josine L; Ritchie, Graham R S; Steinberg, Julia ; Walter, Klaudia ; Iotchkova, Valentina ; Schwartzentruber, Jeremy ; Huang, Jie ; Memari, Yasin ; McCarthy, Shane ; Crawford, Andrew A; Bombieri, Cristina ; Cocca, Massimiliano ; Farmaki, Aliki-Eleni ; Gaunt, Tom R; Jousilahti, Pekka ; Kooijman, Marjolein N; Lehne, Benjamin ; Malerba, Giovanni ; Mannisto, Satu ; Matchan, Angela ; Medina-Gomez, Carolina ; Metrustry, Sarah J; Nag, Abhishek ; Ntalla, Ioanna ; Paternoster, Lavinia ; Rayner, Nigel W; Sala, Cinzia ; Scott, William R; Shihab, Hashem A; Southam, Lorraine ; St Pourcain, Beate ; Traglia, Michela ; Trajanoska, Katerina ; Zaza, Gialuigi ; Zhang, Weihua ; Artigas, Maria S; Bansal, Narinder ; Benn, Marianne ; Chen, Zhongsheng ; Danecek, Petr ; Lin, Wei-Yu ; Locke, Adam ; Luan, Jian'an ; Manning, Alisa K; Mulas, Antonella ; Sidore, Carlo ; Tybjaerg-Hansen, Anne ; Varbo, Anette ; Zoledziewska, Magdalena ; Finan, Chris ; Hatzikotoulas, Konstantinos ; Hendricks, Audrey E; Kemp, John P; Moayyeri, Alireza ; Panoutsopoulou, Kalliope ; Szpak, Michal ; Wilson, Scott G; Boehnke, Michael ; Cucca, Francesco ; Di Angelantonio, Emanuele ; Langenberg, Claudia ; Lindgren, Cecilia ; McCarthy, Mark I; Morris, Andrew P; Nordestgaard, Borge G; Scott, Robert A; Tobin, Martin D; Wareham, Nicholas J; Burton, Paul ; Chambers, John C; Smith, George Davey ; Dedoussis, George ; Felix, Janine F; Franco, Oscar H; Gambaro, Giovanni ; Gasparini, Paolo ; Hammond, Christopher J; Hofman, Albert ; Jaddoe, Vincent W V; Kleber, Marcus ; Kooner, Jaspal S; Perola, Markus ; Relton, Caroline ; Ring, Susan M; Rivadeneira, Fernando ; Salomaa, Veikko ; Spector, Timothy D; Stegle, Oliver ; Toniolo, Daniela ; Uitterlinden, Andre G; Barroso, Ines ; Greenwood, Celia M T; Perry, John R B; Walker, Brian R; Butterworth, Adam S; Xue, Yali ; Durbin, Richard ; Small, Kerrin S; Soranzo, Nicole ; Timpson, Nicholas J; Zeggini, Eleftheria

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. Journal Article

Am J Hum Genet, 100 (6), pp. 865–884, 2017, ISSN: 1537-6605 0002-9297.

Abstract | Links | BibTeX

Iuculano, Ambra; Stagnati, Valentina; Serrenti, Marianna; Peddes, Cristina; Monni, Giovanni; Sole, Gabriella; Cucca, Francesco

Crown-rump length: are they different or similar after homologous vs heterologous oocyte/embryo donation? Journal Article

American Journal of Obstetrics and Gynecology, 2017, ISSN: 1097-6868.

Links | BibTeX

Qian, Yong ; Butler, Thomas J; Opsahl-Ong, Krista ; Giroux, Nicholas S; Sidore, Carlo ; Nagaraja, Ramaiah ; Cucca, Francesco ; Ferrucci, Luigi ; Abecasis, Goncalo R; Schlessinger, David ; Ding, Jun

fastMitoCalc: an ultra-fast program to estimate mitochondrial DNA copy number from whole-genome sequences. Journal Article

Bioinformatics, 33 (9), pp. 1399–1401, 2017, ISSN: 1367-4811 1367-4803.

Abstract | Links | BibTeX

Olivieri, Anna; Sidore, Carlo; Achilli, Alessandro; Angius, Andrea; Posth, Cosimo; ä, Anja Furtw; Brandini, Stefania; Capodiferro, Marco Rosario; Gandini, Francesca; Zoledziewska, Magdalena; Pitzalis, Maristella; Maschio, Andrea; Busonero, Fabio; Lai, Luca; Skeates, Robin; Gradoli, Maria Giuseppina; Beckett, Jessica; Marongiu, Michele; Mazzarello, Vittorio; Marongiu, Patrizia; Rubino, Salvatore; Rito, Teresa; Macaulay, Vincent; Semino, Ornella; Pala, Maria; ç, Gon; Schlessinger, David; Conde-Sousa, Eduardo; Soares, Pedro; Richards, Martin B; Cucca, Francesco; Torroni, Antonio

Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past Journal Article

Molecular Biology and Evolution, 34 (5), pp. 1230–1239, 2017, ISSN: 1537-1719.

Abstract | Links | BibTeX

Pala, Mauro; Zappala, Zachary; Marongiu, Mara; Li, Xin; Davis, Joe R; Cusano, Roberto; Crobu, Francesca; Kukurba, Kimberly R; Gloudemans, Michael J; Reinier, Frederic; Berutti, Riccardo; Piras, Maria G; Mulas, Antonella; Zoledziewska, Magdalena; Marongiu, Michele; Sorokin, Elena P; Hess, Gaelen T; Smith, Kevin S; Busonero, Fabio; Maschio, Andrea; Steri, Maristella; Sidore, Carlo; Sanna, Serena; Fiorillo, Edoardo; Bassik, Michael C; Sawcer, Stephen J; Battle, Alexis; Novembre, John; Jones, Chris; Angius, Andrea; ç, Gon; Schlessinger, David; Cucca, Francesco; Montgomery, Stephen B

Population- and individual-specific regulatory variation in Sardinia Journal Article

Nature Genetics, 49 (5), pp. 700–707, 2017, ISSN: 1546-1718.

Abstract | Links | BibTeX

Doro, Maria G; Casu, Giuseppina ; Frogheri, Laura ; Persico, Ivana ; Triet, Le Phan Minh ; Hoa, Phan Thi Thuy ; Hoang, Nguyen Huy ; Pirastru, Monica ; Mereu, Paolo ; Cucca, Francesco ; Masala, Bruno

Molecular Characterization of beta-Thalassemia Mutations in Central Vietnam. Journal Article

Hemoglobin, 41 (2), pp. 96–99, 2017, ISSN: 1532-432X 0363-0269.

Abstract | Links | BibTeX

Palombo, Flavia ; Al-Wardy, Nadia ; Ruscone, Guido Alberto Gnecchi ; Oppo, Manuela ; Kindi, Mohammed Nasser Al ; Angius, Andrea ; Al Lamki, Khalsa ; Girotto, Giorgia ; Giangregorio, Tania ; Benelli, Matteo ; Magi, Alberto ; Seri, Marco ; Gasparini, Paolo ; Cucca, Francesco ; Sazzini, Marco ; Al Khabori, Mazin ; Pippucci, Tommaso ; Romeo, Giovanni

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman. Journal Article

J Hum Genet, 62 (2), pp. 259–264, 2017, ISSN: 1435-232X 1434-5161.

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de Vries, Paul S; Sabater-Lleal, Maria ; Chasman, Daniel I; Trompet, Stella ; Ahluwalia, Tarunveer S; Teumer, Alexander ; Kleber, Marcus E; Chen, Ming-Huei ; Wang, Jie Jin ; Attia, John R; Marioni, Riccardo E; Steri, Maristella ; Weng, Lu-Chen ; Pool, Rene ; Grossmann, Vera ; Brody, Jennifer A; Venturini, Cristina ; Tanaka, Toshiko ; Rose, Lynda M; Oldmeadow, Christopher ; Mazur, Johanna ; Basu, Saonli ; Franberg, Mattias ; Yang, Qiong ; Ligthart, Symen ; Hottenga, Jouke J; Rumley, Ann ; Mulas, Antonella ; de Craen, Anton J M; Grotevendt, Anne ; Taylor, Kent D; Delgado, Graciela E; Kifley, Annette ; Lopez, Lorna M; Berentzen, Tina L; Mangino, Massimo ; Bandinelli, Stefania ; Morrison, Alanna C; Hamsten, Anders ; Tofler, Geoffrey ; de Maat, Moniek P M; Draisma, Harmen H M; Lowe, Gordon D; Zoledziewska, Magdalena ; Sattar, Naveed ; Lackner, Karl J; Volker, Uwe ; McKnight, Barbara ; Huang, Jie ; Holliday, Elizabeth G; McEvoy, Mark A; Starr, John M; Hysi, Pirro G; Hernandez, Dena G; Guan, Weihua ; Rivadeneira, Fernando ; McArdle, Wendy L; Slagboom, Eline P; Zeller, Tanja ; Psaty, Bruce M; Uitterlinden, Andre G; de Geus, Eco J C; Stott, David J; Binder, Harald ; Hofman, Albert ; Franco, Oscar H; Rotter, Jerome I; Ferrucci, Luigi ; Spector, Tim D; Deary, Ian J; Marz, Winfried ; Greinacher, Andreas ; Wild, Philipp S; Cucca, Francesco ; Boomsma, Dorret I; Watkins, Hugh ; Tang, Weihong ; Ridker, Paul M; Jukema, Jan W; Scott, Rodney J; Mitchell, Paul ; Hansen, Torben ; O'Donnell, Christopher J; Smith, Nicholas L; Strachan, David P; Dehghan, Abbas

Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. Journal Article

PLoS One, 12 (1), pp. e0167742, 2017, ISSN: 1932-6203 1932-6203.

Abstract | Links | BibTeX

Steri, Maristella; Orrù, Valeria; Idda, Laura M; Pitzalis, Maristella; Pala, Mauro; Zara, Ilenia; Sidore, Carlo; Faà, Valeria; Floris, Matteo; Deiana, Manila; Asunis, Isadora; Porcu, Eleonora; Mulas, Antonella; Piras, Maria G; Lobina, Monia; Lai, Sandra; Marongiu, Mara; Serra, Valentina; Marongiu, Michele; Sole, Gabriella; Busonero, Fabio; Maschio, Andrea; Cusano, Roberto; Cuccuru, Gianmauro; Deidda, Francesca; Poddie, Fausto; Farina, Gabriele; Dei, Mariano; Virdis, Francesca; Olla, Stefania; Satta, Maria A; Pani, Mario; Delitala, Alessandro; Cocco, Eleonora; Frau, Jessica; Coghe, Giancarlo; Lorefice, Lorena; Fenu, Giuseppe; Ferrigno, Paola; Ban, Maria; Barizzone, Nadia; Leone, Maurizio; Guerini, Franca R; Piga, Matteo; Firinu, Davide; Kockum, Ingrid; Lima Bomfim, Izaura ; Olsson, Tomas; Alfredsson, Lars; Suarez, Ana; Carreira, Patricia E; Castillo-Palma, Maria J; Marcus, Joseph H; Congia, Mauro; Angius, Andrea; Melis, Maurizio; Gonzalez, Antonio; ó}n Riquelme, Marta {Alarc E; da Silva, Berta M; Marchini, Maurizio; Danieli, Maria G; Del Giacco, Stefano ; Mathieu, Alessandro; Pani, Antonello; Montgomery, Stephen B; Rosati, Giulio; Hillert, Jan; Sawcer, Stephen; D'Alfonso, Sandra; Todd, John A; Novembre, John; ç, Gon; Whalen, Michael B; Marrosu, Maria G; Meloni, Alessandra; Sanna, Serena; Gorospe, Myriam; Schlessinger, David; Fiorillo, Edoardo; Zoledziewska, Magdalena; Cucca, Francesco

Overexpression of the Cytokine BAFF and Autoimmunity Risk Journal Article

The New England Journal of Medicine, 376 (17), pp. 1615–1626, 2017, ISSN: 1533-4406, (See Editorials, Korn T, Oukka M. A BAFFling Association between Malaria Resistance and the Risk of Multiple Sclerosis. N Engl J Med. 2017 Apr 27;376(17):1680-1681. doi: 10.1056/NEJMe1700720.; Stohl W., Systemic lupus erythematosus: BAFF emerges from the genetic shadows. Nat Rev Rheumatol. 2017 Jun 15. doi: 10.1038/nrrheum.2017.99; Comabella M. Neuroimmunology: B cells and variant BAFF in autoimmune disease. Nat Rev Neurol. 2017 Jun 16. doi: 10.1038/nrneurol.2017.87.).

Abstract | Links | BibTeX

2016

Scuteri, Angelo ; Franco, Oscar H; Majiid, AlGhatrif ; Jolita, Badariene ; Sergey, Boytsov ; Cheng, Hao-Min ; Chen, Chen-Huan ; Choi, Seong-Woo ; Francesco, Cucca ; De Buyzere, Marc L; Alessandro, Delitala ; Marcus, Dorr ; Gunnar, Engstrom ; Albert, Hofman ; Seul-Ki, Jeong ; Kweon, Sun-Seog ; Michel, Langlois ; Lee, Young-Hoon ; Mattace Raso, Francesco ; Olle, Melander ; Morrell, Cristopher H; Park, Kyeong-Soo ; Rietzschel, Ernst R; Kristina, Ryliskiene ; Ryliskyte, Ligita ; Ulf, Schminke ; David, Schlessinger ; Shin, Min-Ho ; Irina, Strazhesko ; Shih-Hsien, Sung ; Olga, Tkacheva ; Volzke, Henry ; Lakatta, Edward G; Nilsson, Peter

The relationship between the metabolic syndrome and arterial wall thickness: A mosaic still to be interpreted. Journal Article

Atherosclerosis, 255 , pp. 11–16, 2016, ISSN: 1879-1484 0021-9150.

Abstract | Links | BibTeX

Danjou, Fabrice ; Fozza, Claudio ; Zoledziewska, Magdalena ; Mulas, Antonella ; Corda, Giovanna ; Contini, Salvatore ; Dore, Fausto ; Galleu, Antonio ; Di Tucci, Anna Angela ; Caocci, Giovanni ; Gaviano, Eleonora ; Latte, Giancarlo ; Gabbas, Attilio ; Casula, Paolo ; Delogu, Lucia Gemma ; La Nasa, Giorgio ; Angelucci, Emanuele ; Cucca, Francesco ; Longinotti, Maurizio

A genome-wide association study by ImmunoChip reveals potential modifiers in myelodysplastic syndromes. Journal Article

Exp Hematol, 44 (11), pp. 1034–1038, 2016, ISSN: 1873-2399 0301-472X.

Abstract | Links | BibTeX

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

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

Nat Genet, 48 (10), pp. 1279–1283, 2016, ISSN: 1546-1718 1061-4036.

Abstract | Links | BibTeX

Delitala, Alessandro P; Steri, Maristella ; Pilia, Maria Grazia ; Dei, Mariano ; Lai, Sandra ; Delitala, Giuseppe ; Schlessinger, David ; Cucca, Francesco

Menopause modulates the association between thyrotropin levels and lipid parameters: The SardiNIA study. Journal Article

Maturitas, 92 , pp. 30–34, 2016, ISSN: 1873-4111 0378-5122.

Abstract | Links | BibTeX

Das, Sayantan; Forer, Lukas; ö, Sebastian Sch; Sidore, Carlo; Locke, Adam E; Kwong, Alan; Vrieze, Scott I; Chew, Emily Y; Levy, Shawn; McGue, Matt; Schlessinger, David; Stambolian, Dwight; Loh, Po-Ru; Iacono, William G; Swaroop, Anand; Scott, Laura J; Cucca, Francesco; Kronenberg, Florian; Boehnke, Michael; ç, Gon; Fuchsberger, Christian

Next-generation genotype imputation service and methods Journal Article

Nature Genetics, 48 (10), pp. 1284–1287, 2016, ISSN: 1546-1718.

Abstract | Links | BibTeX

Scuteri, Angelo ; Morrell, Christopher H; Orru', Marco ; AlGhatrif, Majid ; Saba, Pier Sergio ; Terracciano, Antonio ; Ferreli, Liana Anna Pina ; Loi, Francesco ; Marongiu, Michele ; Pilia, Maria Grazia ; Delitala, Alessandro ; Tarasov, Kirill V; Schlessinger, David ; Ganau, Antonello ; Cucca, Francesco ; Lakatta, Edward G

Gender specific profiles of white coat and masked hypertension impacts on arterial structure and function in the SardiNIA study. Journal Article

Int J Cardiol, 217 , pp. 92–98, 2016, ISSN: 1874-1754 0167-5273.

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Marongiu, Mara; Deiana, Manila; Marcia, Loredana; Sbardellati, Andrea; Asunis, Isadora; Meloni, Alessandra; Angius, Andrea; Cusano, Roberto; Loi, Angela; Crobu, Francesca; Fotia, Giorgio; Cucca, Francesco; Schlessinger, David; Crisponi, Laura

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation Journal Article

Developmental Biology, 416 (1), pp. 200–211, 2016, ISSN: 1095-564X.

Abstract | Links | BibTeX

Andlauer, Till F M; Buck, Dorothea ; Antony, Gisela ; Bayas, Antonios ; Bechmann, Lukas ; Berthele, Achim ; Chan, Andrew ; Gasperi, Christiane ; Gold, Ralf ; Graetz, Christiane ; Haas, Jurgen ; Hecker, Michael ; Infante-Duarte, Carmen ; Knop, Matthias ; Kumpfel, Tania ; Limmroth, Volker ; Linker, Ralf A; Loleit, Verena ; Luessi, Felix ; Meuth, Sven G; Muhlau, Mark ; Nischwitz, Sandra ; Paul, Friedemann ; Putz, Michael ; Ruck, Tobias ; Salmen, Anke ; Stangel, Martin ; Stellmann, Jan-Patrick ; Sturner, Klarissa H; Tackenberg, Bjorn ; Then Bergh, Florian ; Tumani, Hayrettin ; Warnke, Clemens ; Weber, Frank ; Wiendl, Heinz ; Wildemann, Brigitte ; Zettl, Uwe K; Ziemann, Ulf ; Zipp, Frauke ; Arloth, Janine ; Weber, Peter ; Radivojkov-Blagojevic, Milena ; Scheinhardt, Markus O; Dankowski, Theresa ; Bettecken, Thomas ; Lichtner, Peter ; Czamara, Darina ; Carrillo-Roa, Tania ; Binder, Elisabeth B; Berger, Klaus ; Bertram, Lars ; Franke, Andre ; Gieger, Christian ; Herms, Stefan ; Homuth, Georg ; Ising, Marcus ; Jockel, Karl-Heinz ; Kacprowski, Tim ; Kloiber, Stefan ; Laudes, Matthias ; Lieb, Wolfgang ; Lill, Christina M; Lucae, Susanne ; Meitinger, Thomas ; Moebus, Susanne ; Muller-Nurasyid, Martina ; Nothen, Markus M; Petersmann, Astrid ; Rawal, Rajesh ; Schminke, Ulf ; Strauch, Konstantin ; Volzke, Henry ; Waldenberger, Melanie ; Wellmann, Jurgen ; Porcu, Eleonora ; Mulas, Antonella ; Pitzalis, Maristella ; Sidore, Carlo ; Zara, Ilenia ; Cucca, Francesco ; Zoledziewska, Magdalena ; Ziegler, Andreas ; Hemmer, Bernhard ; Muller-Myhsok, Bertram

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation. Journal Article

Sci Adv, 2 (6), pp. e1501678, 2016, ISSN: 2375-2548 2375-2548.

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Demirkan, A; Lahti, J; Direk, N; Viktorin, A; Lunetta, K L; Terracciano, A; Nalls, M A; Tanaka, T; Hek, K; Fornage, M; Wellmann, J; Cornelis, M C; Ollila, H M; Yu, L; Smith, J A; Pilling, L C; Isaacs, A; Palotie, A; Zhuang, W V; Zonderman, A; Faul, J D; Sutin, A; Meirelles, O; Mulas, A; Hofman, A; Uitterlinden, A; Rivadeneira, F; Perola, M; Zhao, W; Salomaa, V; Yaffe, K; Luik, A I; Liu, Y; Ding, J; Lichtenstein, P; Landen, M; Widen, E; Weir, D R; Llewellyn, D J; Murray, A; Kardia, S L R; Eriksson, J G; Koenen, K; Magnusson, P K E; Ferrucci, L; Mosley, T H; Cucca, F; Oostra, B A; Bennett, D A; Paunio, T; Berger, K; Harris, T B; Pedersen, N L; Murabito, J M; Tiemeier, H; van Duijn, C M; Raikkonen, K

Somatic, positive and negative domains of the Center for Epidemiological Studies Depression (CES-Đ) scale: a meta-analysis of genome-wide association studies. Journal Article

Psychol Med, 46 (8), pp. 1613–1623, 2016, ISSN: 1469-8978 0033-2917.

Abstract | Links | BibTeX

Delitala, Alessandro P; Terracciano, Antonio; Fiorillo, Edoardo; ù, Valeria Orr; Schlessinger, David; Cucca, Francesco

Depressive symptoms, thyroid hormone and autoimmunity in a population-based cohort from Sardinia Journal Article

Journal of Affective Disorders, 191 , pp. 82–87, 2016, ISSN: 1573-2517.

Abstract | Links | BibTeX

Delitala, Alessandro P; Terracciano, Antonio ; Fiorillo, Edoardo ; Orru, Valeria ; Schlessinger, David ; Cucca, Francesco

Depressive symptoms, thyroid hormone and autoimmunity in a population-based cohort from Sardinia. Journal Article

J Affect Disord, 191 , pp. 82–87, 2016, ISSN: 1573-2517 0165-0327.

Abstract | Links | BibTeX

de Vries, Paul S; Chasman, Daniel I; Sabater-Lleal, Maria; Chen, Ming-Huei; Huffman, Jennifer E; Steri, Maristella; Tang, Weihong; Teumer, Alexander; Marioni, Riccardo E; Grossmann, Vera; Hottenga, Jouke J; Trompet, Stella; ü, Martina M; Zhao, Jing Hua; Brody, Jennifer A; Kleber, Marcus E; Guo, Xiuqing; Wang, Jie Jin; Auer, Paul L; Attia, John R; Yanek, Lisa R; Ahluwalia, Tarunveer S; Lahti, Jari; Venturini, Cristina; Tanaka, Toshiko; Bielak, Lawrence F; Joshi, Peter K; Rocanin-Arjo, Ares; Kolcic, Ivana; Navarro, Pau; Rose, Lynda M; Oldmeadow, Christopher; Riess, Helene; Mazur, Johanna; Basu, Saonli; Goel, Anuj; Yang, Qiong; Ghanbari, Mohsen; Willemsen, Gonneke; Rumley, Ann; Fiorillo, Edoardo; de Craen, Anton J M; Grotevendt, Anne; Scott, Robert; Taylor, Kent D; Delgado, Graciela E; Yao, Jie; Kifley, Annette; Kooperberg, Charles; Qayyum, Rehan; Lopez, Lorna M; Berentzen, Tina L; ö, Katri R{ä}ikk; Mangino, Massimo; Bandinelli, Stefania; Peyser, Patricia A; Wild, Sarah; ë, David-Alexandre Tr{é}gou; Wright, Alan F; Marten, Jonathan; Zemunik, Tatijana; Morrison, Alanna C; Sennblad, Bengt; Tofler, Geoffrey; de Maat, Moniek P M; de Geus, Eco J C; Lowe, Gordon D; Zoledziewska, Magdalena; Sattar, Naveed; Binder, Harald; ö, Uwe V; Waldenberger, Melanie; Khaw, Kay-Tee; Mcknight, Barbara; Huang, Jie; Jenny, Nancy S; Holliday, Elizabeth G; Qi, Lihong; Mcevoy, Mark G; Becker, Diane M; Starr, John M; Sarin, Antti-Pekka; Hysi, Pirro G; Hernandez, Dena G; Jhun, Min A; Campbell, Harry; Hamsten, Anders; Rivadeneira, Fernando; Mcardle, Wendy L; Slagboom, Eline P; Zeller, Tanja; Koenig, Wolfgang; Psaty, Bruce M; Haritunians, Talin; Liu, Jingmin; Palotie, Aarno; é, Andr; Stott, David J; Hofman, Albert; Franco, Oscar H; Polasek, Ozren; Rudan, Igor; Morange, Pierre-Emmanuel; Wilson, James F; Kardia, Sharon L R; Ferrucci, Luigi; Spector, Tim D; Eriksson, Johan G; Hansen, Torben; Deary, Ian J; Becker, Lewis C; Scott, Rodney J; Mitchell, Paul; ä, Winfried M; Wareham, Nick J; Peters, Annette; Greinacher, Andreas; Wild, Philipp S; Jukema, Wouter J; Boomsma, Dorret I; Hayward, Caroline; Cucca, Francesco; Tracy, Russell; Watkins, Hugh; Reiner, Alex P; Folsom, Aaron R; Ridker, Paul M; O'Donnell, Christopher J; Smith, Nicholas L; Strachan, David P; Dehghan, Abbas

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration Journal Article

Human Molecular Genetics, 25 (2), pp. 358–370, 2016, ISSN: 1460-2083.

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2015

Delitala, A P; Filigheddu, F; Orru, M; AlGhatrif, M; Steri, M; Pilia, M G; Scuteri, A; Lobina, M; Piras, M G; Delitala, G; Lakatta, E G; Schlessinger, D; Cucca, F

No evidence of association between subclinical thyroid disorders and common carotid intima medial thickness or atherosclerotic plaque. Journal Article

Nutr Metab Cardiovasc Dis, 25 (12), pp. 1104–1110, 2015, ISSN: 1590-3729 0939-4753.

Abstract | Links | BibTeX

Sidore, Carlo; Busonero, Fabio; Maschio, Andrea; Porcu, Eleonora; Naitza, Silvia; Zoledziewska, Magdalena; Mulas, Antonella; Pistis, Giorgio; Steri, Maristella; Danjou, Fabrice; Kwong, Alan; Ortega Del Vecchyo, Vicente Diego ; Chiang, Charleston W K; Bragg-Gresham, Jennifer; Pitzalis, Maristella; Nagaraja, Ramaiah; Tarrier, Brendan; Brennan, Christine; Uzzau, Sergio; Fuchsberger, Christian; Atzeni, Rossano; Reinier, Frederic; Berutti, Riccardo; Huang, Jie; Timpson, Nicholas J; Toniolo, Daniela; Gasparini, Paolo; Malerba, Giovanni; Dedoussis, George; Zeggini, Eleftheria; Soranzo, Nicole; Jones, Chris; Lyons, Robert; Angius, Andrea; Kang, Hyun M; Novembre, John; Sanna, Serena; Schlessinger, David; Cucca, Francesco; ç, Gon

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers Journal Article

Nature Genetics, 47 (11), pp. 1272–1281, 2015, ISSN: 1546-1718.

Abstract | Links | BibTeX

Danjou, Fabrice; Zoledziewska, Magdalena; Sidore, Carlo; Steri, Maristella; Busonero, Fabio; Maschio, Andrea; Mulas, Antonella; Perseu, Lucia; Barella, Susanna; Porcu, Eleonora; Pistis, Giorgio; Pitzalis, Maristella; Pala, Mauro; Menzel, Stephan; Metrustry, Sarah; Spector, Timothy D; Leoni, Lidia; Angius, Andrea; Uda, Manuela; Moi, Paolo; Thein, Swee Lay; Galanello, Renzo; ç, Gon; Schlessinger, David; Sanna, Serena; Cucca, Francesco

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels Journal Article

Nature Genetics, 47 (11), pp. 1264–1271, 2015, ISSN: 1546-1718.

Abstract | Links | BibTeX

Zoledziewska, Magdalena; Sidore, Carlo; Chiang, Charleston W K; Sanna, Serena; Mulas, Antonella; Steri, Maristella; Busonero, Fabio; Marcus, Joseph H; Marongiu, Michele; Maschio, Andrea; Del Vecchyo, Diego Ortega ; Floris, Matteo; Meloni, Antonella; Delitala, Alessandro; Concas, Maria Pina; Murgia, Federico; Biino, Ginevra; Vaccargiu, Simona; Nagaraja, Ramaiah; Lohmueller, Kirk E; Consortium, UK10K; Timpson, Nicholas J; Soranzo, Nicole; Tachmazidou, Ioanna; Dedoussis, George; Zeggini, Eleftheria; Group, Understanding Society Scientific; Uzzau, Sergio; Jones, Chris; Lyons, Robert; Angius, Andrea; ç, Gon; Novembre, John; Schlessinger, David; Cucca, Francesco

Height-reducing variants and selection for short stature in Sardinia Journal Article

Nature Genetics, 47 (11), pp. 1352–1356, 2015, ISSN: 1546-1718.

Abstract | Links | BibTeX

Reinier, Frederic; Zoledziewska, Magdalena; Hanna, David; Smith, Josh D; Valentini, Maria; Zara, Ilenia; Berutti, Riccardo; Sanna, Serena; Oppo, Manuela; Cusano, Roberto; Satta, Rosanna; Montesu, Maria Antonietta; Jones, Chris; Cerimele, Decio; Nickerson, Deborah A; Angius, Andrea; Cucca, Francesco; Cottoni, Francesca; Crisponi, Laura

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies Journal Article

Metabolism: Clinical and Experimental, 64 (11), pp. 1530–1540, 2015, ISSN: 1532-8600.

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Barizzone, Nadia ; Zara, Ilenia ; Sorosina, Melissa ; Lupoli, Sara ; Porcu, Eleonora ; Pitzalis, Maristella ; Zoledziewska, Magdalena ; Esposito, Federica ; Leone, Maurizio ; Mulas, Antonella ; Cocco, Eleonora ; Ferrigno, Paola ; Guerini, Franca R; Brambilla, Paola ; Farina, Gabriele ; Murru, Raffaele ; Deidda, Francesca ; Sanna, Sonia ; Loi, Alessia ; Barlassina, Cristina ; Vecchio, Domizia ; Zauli, Andrea ; Clarelli, Ferdinando ; Braga, Daniele ; Poddie, Fausto ; Cantello, Roberto ; Martinelli, Vittorio ; Comi, Giancarlo ; Frau, Jessica ; Lorefice, Lorena ; Pugliatti, Maura ; Rosati, Giulio ; Melis, Maurizio ; Marrosu, Maria G; Cusi, Daniele ; Cucca, Francesco ; Martinelli Boneschi, Filippo ; Sanna, Serena ; D'Alfonso, Sandra

The burden of multiple sclerosis variants in continental Italians and Sardinians. Journal Article

Mult Scler, 21 (11), pp. 1385–1395, 2015, ISSN: 1477-0970 1352-4585.

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Lunetta, Kathryn L; Day, Felix R; Sulem, Patrick ; Ruth, Katherine S; Tung, Joyce Y; Hinds, David A; Esko, Tonu ; Elks, Cathy E; Altmaier, Elisabeth ; He, Chunyan ; Huffman, Jennifer E; Mihailov, Evelin ; Porcu, Eleonora ; Robino, Antonietta ; Rose, Lynda M; Schick, Ursula M; Stolk, Lisette ; Teumer, Alexander ; Thompson, Deborah J; Traglia, Michela ; Wang, Carol A; Yerges-Armstrong, Laura M; Antoniou, Antonis C; Barbieri, Caterina ; Coviello, Andrea D; Cucca, Francesco ; Demerath, Ellen W; Dunning, Alison M; Gandin, Ilaria ; Grove, Megan L; Gudbjartsson, Daniel F; Hocking, Lynne J; Hofman, Albert ; Huang, Jinyan ; Jackson, Rebecca D; Karasik, David ; Kriebel, Jennifer ; Lange, Ethan M; Lange, Leslie A; Langenberg, Claudia ; Li, Xin ; Luan, Jian'an ; Magi, Reedik ; Morrison, Alanna C; Padmanabhan, Sandosh ; Pirie, Ailith ; Polasek, Ozren ; Porteous, David ; Reiner, Alex P; Rivadeneira, Fernando ; Rudan, Igor ; Sala, Cinzia F; Schlessinger, David ; Scott, Robert A; Stockl, Doris ; Visser, Jenny A; Volker, Uwe ; Vozzi, Diego ; Wilson, James G; Zygmunt, Marek ; Boerwinkle, Eric ; Buring, Julie E; Crisponi, Laura ; Easton, Douglas F; Hayward, Caroline ; Hu, Frank B; Liu, Simin ; Metspalu, Andres ; Pennell, Craig E; Ridker, Paul M; Strauch, Konstantin ; Streeten, Elizabeth A; Toniolo, Daniela ; Uitterlinden, Andre G; Ulivi, Sheila ; Volzke, Henry ; Wareham, Nicholas J; Wellons, Melissa ; Franceschini, Nora ; Chasman, Daniel I; Thorsteinsdottir, Unnur ; Murray, Anna ; Stefansson, Kari ; Murabito, Joanne M; Ong, Ken K; Perry, John R B

Rare coding variants and X-linked loci associated with age at menarche. Journal Article

Nat Commun, 6 , pp. 7756, 2015, ISSN: 2041-1723 2041-1723.

Abstract | Links | BibTeX

Ding, Jun ; Sidore, Carlo ; Butler, Thomas J; Wing, Mary Kate ; Qian, Yong ; Meirelles, Osorio ; Busonero, Fabio ; Tsoi, Lam C; Maschio, Andrea ; Angius, Andrea ; Kang, Hyun Min ; Nagaraja, Ramaiah ; Cucca, Francesco ; Abecasis, Goncalo R; Schlessinger, David

Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of textasciitilde2,000 Sardinians Using Tailored Sequencing Analysis Tools. Journal Article

PLoS Genet, 11 (7), pp. e1005306, 2015, ISSN: 1553-7404 1553-7390.

Abstract | Links | BibTeX

Pistis, Giorgio ; Porcu, Eleonora ; Vrieze, Scott I; Sidore, Carlo ; Steri, Maristella ; Danjou, Fabrice ; Busonero, Fabio ; Mulas, Antonella ; Zoledziewska, Magdalena ; Maschio, Andrea ; Brennan, Christine ; Lai, Sandra ; Miller, Michael B; Marcelli, Marco ; Urru, Maria Francesca ; Pitzalis, Maristella ; Lyons, Robert H; Kang, Hyun M; Jones, Chris M; Angius, Andrea ; Iacono, William G; Schlessinger, David ; McGue, Matt ; Cucca, Francesco ; Abecasis, Goncalo R; Sanna, Serena

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs. Journal Article

Eur J Hum Genet, 23 (7), pp. 975–983, 2015, ISSN: 1476-5438 1018-4813.

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Taylor, Peter N; Porcu, Eleonora ; Chew, Shelby ; Campbell, Purdey J; Traglia, Michela ; Brown, Suzanne J; Mullin, Benjamin H; Shihab, Hashem A; Min, Josine ; Walter, Klaudia ; Memari, Yasin ; Huang, Jie ; Barnes, Michael R; Beilby, John P; Charoen, Pimphen ; Danecek, Petr ; Dudbridge, Frank ; Forgetta, Vincenzo ; Greenwood, Celia ; Grundberg, Elin ; Johnson, Andrew D; Hui, Jennie ; Lim, Ee M; McCarthy, Shane ; Muddyman, Dawn ; Panicker, Vijay ; Perry, John R B; Bell, Jordana T; Yuan, Wei ; Relton, Caroline ; Gaunt, Tom ; Schlessinger, David ; Abecasis, Goncalo ; Cucca, Francesco ; Surdulescu, Gabriela L; Woltersdorf, Wolfram ; Zeggini, Eleftheria ; Zheng, Hou-Feng ; Toniolo, Daniela ; Dayan, Colin M; Naitza, Silvia ; Walsh, John P; Spector, Tim ; Smith, George Davey ; Durbin, Richard ; Richards, Brent J; Sanna, Serena ; Soranzo, Nicole ; Timpson, Nicholas J; Wilson, Scott G

Erratum: Whole-genome sequence-based analysis of thyroid function. Journal Article

Nat Commun, 6 , pp. 7172, 2015, ISSN: 2041-1723 2041-1723.

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Feng, Shuang ; Pistis, Giorgio ; Zhang, He ; Zawistowski, Matthew ; Mulas, Antonella ; Zoledziewska, Magdalena ; Holmen, Oddgeir L; Busonero, Fabio ; Sanna, Serena ; Hveem, Kristian ; Willer, Cristen ; Cucca, Francesco ; Liu, Dajiang J; Abecasis, Goncalo R

Methods for association analysis and meta-analysis of rare variants in families. Journal Article

Genet Epidemiol, 39 (4), pp. 227–238, 2015, ISSN: 1098-2272 0741-0395.

Abstract | Links | BibTeX

Francalacci, Paolo; Sanna, Daria; Useli, Antonella; Berutti, Riccardo; Barbato, Mario; Whalen, Michael B; Angius, Andrea; Sidore, Carlo; Alonso, Santos; Tofanelli, Sergio; Cucca, Francesco

Detection of phylogenetically informative polymorphisms in the entire euchromatic portion of human Y chromosome from a Sardinian sample Journal Article

BMC research notes, 8 , pp. 174, 2015, ISSN: 1756-0500.

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Scuteri, Angelo ; Laurent, Stephane ; Cucca, Francesco ; Cockcroft, John ; Cunha, Pedro Guimaraes ; Manas, Leocadio Rodriguez ; Mattace Raso, Francesco U; Muiesan, Maria Lorenza ; Ryliskyte, Ligita ; Rietzschel, Ernst ; Strait, James ; Vlachopoulos, Charalambos ; Volzke, Henry ; Lakatta, Edward G; Nilsson, Peter M

Metabolic syndrome across Europe: different clusters of risk factors. Journal Article

Eur J Prev Cardiol, 22 (4), pp. 486–491, 2015, ISSN: 2047-4881 2047-4873.

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Delitala, Alessandro P; Orru, Marco ; Filigheddu, Fabiana ; Pilia, Maria Grazia ; Delitala, Giuseppe ; Ganau, Antonello ; Saba, Pier Sergio ; Decandia, Federica ; Scuteri, Angelo ; Marongiu, Michele ; Lakatta, Edward G; Strait, James ; Cucca, Francesco

Serum free thyroxine levels are positively associated with arterial stiffness in the SardiNIA study. Journal Article

Clin Endocrinol (Oxf), 82 (4), pp. 592–597, 2015, ISSN: 1365-2265 0300-0664.

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Predazzi, Irene M; Sobota, Rafal S; Sanna, Serena ; Bush, William S; Bartlett, Jacquelaine ; Lilley, Jessica S; Linton, MacRae F; Schlessinger, David ; Cucca, Francesco ; Fazio, Sergio ; Williams, Scott M

Sex-Specific Parental Effects on Offspring Lipid Levels. Journal Article

J Am Heart Assoc, 4 (7), 2015, ISSN: 2047-9980 2047-9980.

Abstract | Links | BibTeX

Taylor, Peter N; Porcu, Eleonora ; Chew, Shelby ; Campbell, Purdey J; Traglia, Michela ; Brown, Suzanne J; Mullin, Benjamin H; Shihab, Hashem A; Min, Josine ; Walter, Klaudia ; Memari, Yasin ; Huang, Jie ; Barnes, Michael R; Beilby, John P; Charoen, Pimphen ; Danecek, Petr ; Dudbridge, Frank ; Forgetta, Vincenzo ; Greenwood, Celia ; Grundberg, Elin ; Johnson, Andrew D; Hui, Jennie ; Lim, Ee M; McCarthy, Shane ; Muddyman, Dawn ; Panicker, Vijay ; Perry, John R B; Bell, Jordana T; Yuan, Wei ; Relton, Caroline ; Gaunt, Tom ; Schlessinger, David ; Abecasis, Goncalo ; Cucca, Francesco ; Surdulescu, Gabriela L; Woltersdorf, Wolfram ; Zeggini, Eleftheria ; Zheng, Hou-Feng ; Toniolo, Daniela ; Dayan, Colin M; Naitza, Silvia ; Walsh, John P; Spector, Tim ; Davey Smith, George ; Durbin, Richard ; Richards, Brent J; Sanna, Serena ; Soranzo, Nicole ; Timpson, Nicholas J; Wilson, Scott G

Whole-genome sequence-based analysis of thyroid function. Journal Article

Nat Commun, 6 , pp. 5681, 2015, ISSN: 2041-1723 2041-1723.

Abstract | Links | BibTeX

2014

Terracciano, Antonio ; Scuteri, Angelo ; Strait, James ; Sutin, Angelina R; Meirelles, Osorio ; Marongiu, Michele ; Orru, Marco ; Pilia, Maria Grazia ; Ferrucci, Luigi ; Cucca, Francesco ; Schlessinger, David ; Lakatta, Edward

Are personality traits associated with white-coat and masked hypertension? Journal Article

J Hypertens, 32 (10), pp. 1987–1992; discussion 1992, 2014, ISSN: 1473-5598 0263-6352.

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Pani, Antonello ; Bragg-Gresham, Jennifer ; Masala, Marco ; Piras, Doloretta ; Atzeni, Alice ; Pilia, Maria G; Ferreli, Liana ; Balaci, Lenuta ; Curreli, Nicol{ò} ; Delitala, Alessandro ; Loi, Francesco ; Abecasis, Gon{ç}alo R; Schlessinger, David ; Cucca, Francesco

Prevalence of CKD and its relationship to eGFR-related genetic loci and clinical risk factors in the SardiNIA study cohort. Journal Article

Journal of the American Society of Nephrology : JASN, 25 (7), pp. 1533–44, 2014, ISSN: 1533-3450.

Abstract | Links | BibTeX

Delitala, Alessandro P; Pilia, Maria Grazia ; Ferreli, Liana ; Loi, Francesco ; Curreli, Nicolo ; Balaci, Lenuta ; Schlessinger, David ; Cucca, Francesco

Prevalence of unknown thyroid disorders in a Sardinian cohort. Journal Article

Eur J Endocrinol, 171 (1), pp. 143–149, 2014, ISSN: 1479-683X 0804-4643.

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Sikora, Martin ; Carpenter, Meredith L; Moreno-Estrada, Andres ; Henn, Brenna M; Underhill, Peter A; S{á}nchez-Quinto, Federico ; Zara, Ilenia ; Pitzalis, Maristella ; Sidore, Carlo ; Busonero, Fabio ; Maschio, Andrea ; Angius, Andrea ; Jones, Chris ; Mendoza-Revilla, Javier ; Nekhrizov, Georgi ; Dimitrova, Diana ; Theodossiev, Nikola ; Harkins, Timothy T; Keller, Andreas ; Maixner, Frank ; Zink, Albert ; Abecasis, Goncalo ; Sanna, Serena ; Cucca, Francesco ; Bustamante, Carlos D

Population genomic analysis of ancient and modern genomes yields new insights into the genetic ancestry of the Tyrolean Iceman and the genetic structure of Europe. Journal Article

PLoS genetics, 10 (5), pp. e1004353, 2014, ISSN: 1553-7404.

Abstract | Links | BibTeX

Scuteri, Angelo ; Cunha, Pedro G; Rosei, Agabiti E; Badariere, Jolita ; Bekaert, Sofie ; Cockcroft, John R; Cotter, Jorge ; Cucca, Francesco ; De Buyzere, Marc L; De Meyer, Tim ; Ferrucci, Luigi ; Franco, Osca ; Gale, Nichols ; Gillebert, Thierry C; Hofman, A; Langlois, Michel ; Laucevicius, Aleksandras ; Laurent, Stephane ; Mattace Raso, Francesco U S; Morrell, Cristopher H; Muiesan, Maria Lorenza ; Munnery, Margaret M; Navickas, Rokas ; Oliveira, Pedro ; Orru', Marco ; Pilia, Maria Grazia ; Rietzschel, Ernst R; Ryliskyte, Ligita ; Salvetti, Massimo ; Schlessinger, David ; Sousa, Nuno ; Stefanadis, Christodoulos ; Strait, James ; Van daele, Caroline ; Villa, Isabel ; Vlachopoulos, Charalambos ; Witteman, Jacqueline ; Xaplanteris, Panagiotis ; Nilsson, Peter ; Lakatta, Edward G

Arterial stiffness and influences of the metabolic syndrome: a cross-countries study. Journal Article

Atherosclerosis, 233 (2), pp. 654–660, 2014, ISSN: 1879-1484 0021-9150.

Abstract | Links | BibTeX

Elhaik, Eran ; Tatarinova, Tatiana ; Chebotarev, Dmitri ; Piras, Ignazio S; Maria Calo, Carla ; De Montis, Antonella ; Atzori, Manuela ; Marini, Monica ; Tofanelli, Sergio ; Francalacci, Paolo ; Pagani, Luca ; Tyler-Smith, Chris ; Xue, Yali ; Cucca, Francesco ; Schurr, Theodore G; Gaieski, Jill B; Melendez, Carlalynne ; Vilar, Miguel G; Owings, Amanda C; Gomez, Rocio ; Fujita, Ricardo ; Santos, Fabricio R; Comas, David ; Balanovsky, Oleg ; Balanovska, Elena ; Zalloua, Pierre ; Soodyall, Himla ; Pitchappan, Ramasamy ; Ganeshprasad, Arunkumar ; Hammer, Michael ; Matisoo-Smith, Lisa ; Wells, Spencer R

Geographic population structure analysis of worldwide human populations infers their biogeographical origins. Journal Article

Nat Commun, 5 , pp. 3513, 2014, ISSN: 2041-1723 2041-1723.

Abstract | Links | BibTeX

Terracciano, Antonio ; Strait, James ; Scuteri, Angelo ; Meirelles, Osorio ; Sutin, Angelina R; Tarasov, Kirill ; Ding, Jun ; Marongiu, Michele ; Orru, Marco ; Pilia, Maria Grazia ; Cucca, Francesco ; Lakatta, Edward ; Schlessinger, David

Personality traits and circadian blood pressure patterns: a 7-year prospective study. Journal Article

Psychosom Med, 76 (3), pp. 237–243, 2014, ISSN: 1534-7796 0033-3174.

Abstract | Links | BibTeX

Sutin, Angelina R; Cutler, Roy G; Camandola, Simonetta ; Uda, Manuela ; Feldman, Neil H; Cucca, Francesco ; Zonderman, Alan B; Mattson, Mark P; Ferrucci, Luigi ; Schlessinger, David ; Terracciano, Antonio

Impulsivity is associated with uric acid: evidence from humans and mice. Journal Article

Biol Psychiatry, 75 (1), pp. 31–37, 2014, ISSN: 1873-2402 0006-3223.

Abstract | Links | BibTeX

Baumert, Jens; Huang, Jie; McKnight, Barbara; Sabater-Lleal, Maria; Steri, Maristella; Chu, Audrey Y; Trompet, Stella; Lopez, Lorna M; Fornage, Myriam; Teumer, Alexander; Tang, Weihong; Rudnicka, Alicja R; ä, Anders M; Hottenga, Jouke-Jan; Kavousi, Maryam; Lahti, Jari; Tanaka, Toshiko; Hayward, Caroline; Huffman, Jennifer E; Morange, Pierre-Emmanuel; Rose, Lynda M; Basu, Saonli; Rumley, Ann; Stott, David J; Buckley, Brendan M; de Craen, Anton J M; Sanna, Serena; Masala, Marco; Biffar, Reiner; Homuth, Georg; Silveira, Angela; Sennblad, Bengt; Goel, Anuj; Watkins, Hugh; ü, Martina M; ü, Regina R; Taylor, Kent; Chen, Ming-Huei; de Geus, Eco J C; Hofman, Albert; Witteman, Jacqueline C M; de Maat, Moniek P M; Palotie, Aarno; Davies, Gail; Siscovick, David S; Kolcic, Ivana; Wild, Sarah H; Song, Jaejoon; McArdle, Wendy L; Ford, Ian; Sattar, Naveed; Schlessinger, David; Grotevendt, Anne; Franzosi, Maria Grazia; Illig, Thomas; Waldenberger, Melanie; Lumley, Thomas; Tofler, Geoffrey H; Willemsen, Gonneke; é, Andr; Rivadeneira, Fernando; ö, Katri R{ä}ikk; Chasman, Daniel I; Folsom, Aaron R; Lowe, Gordon D; Westendorp, Rudi G J; Slagboom, Eline P; Cucca, Francesco; Wallaschofski, Henri; Strawbridge, Rona J; Seedorf, Udo; Koenig, Wolfgang; Bis, Joshua C; Mukamal, Kenneth J; van Dongen, Jenny; Widen, Elisabeth; Franco, Oscar H; Starr, John M; Liu, Kiang; Ferrucci, Luigi; Polasek, Ozren; Wilson, James F; Oudot-Mellakh, Tiphaine; Campbell, Harry; Navarro, Pau; Bandinelli, Stefania; Eriksson, Johan; Boomsma, Dorret I; Dehghan, Abbas; Clarke, Robert; Hamsten, Anders; Boerwinkle, Eric; Jukema, Wouter J; Naitza, Silvia; Ridker, Paul M; ö, Henry V; Deary, Ian J; Reiner, Alexander P; ë, David-Alexandre Tr{é}gou; O'Donnell, Christopher J; Strachan, David P; Peters, Annette; Smith, Nicholas L

No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects Journal Article

PloS One, 9 (12), pp. e111156, 2014, ISSN: 1932-6203.

Abstract | Links | BibTeX

2013

Stephens, Sarah H; Hartz, Sarah M; Hoft, Nicole R; Saccone, Nancy L; Corley, Robin C; Hewitt, John K; Hopfer, Christian J; Breslau, Naomi ; Coon, Hilary ; Chen, Xiangning ; Ducci, Francesca ; Dueker, Nicole ; Franceschini, Nora ; Frank, Josef ; Han, Younghun ; Hansel, Nadia N; Jiang, Chenhui ; Korhonen, Tellervo ; Lind, Penelope A; Liu, Jason ; Lyytikainen, Leo-Pekka ; Michel, Martha ; Shaffer, John R; Short, Susan E; Sun, Juzhong ; Teumer, Alexander ; Thompson, John R; Vogelzangs, Nicole ; Vink, Jacqueline M; Wenzlaff, Angela ; Wheeler, William ; Yang, Bao-Zhu ; Aggen, Steven H; Balmforth, Anthony J; Baumeister, Sebastian E; Beaty, Terri H; Benjamin, Daniel J; Bergen, Andrew W; Broms, Ulla ; Cesarini, David ; Chatterjee, Nilanjan ; Chen, Jingchun ; Cheng, Yu-Ching ; Cichon, Sven ; Couper, David ; Cucca, Francesco ; Dick, Danielle ; Foroud, Tatiana ; Furberg, Helena ; Giegling, Ina ; Gillespie, Nathan A; Gu, Fangyi ; Hall, Alistair S; Hallfors, Jenni ; Han, Shizhong ; Hartmann, Annette M; Heikkila, Kauko ; Hickie, Ian B; Hottenga, Jouke Jan ; Jousilahti, Pekka ; Kaakinen, Marika ; Kahonen, Mika ; Koellinger, Philipp D; Kittner, Stephen ; Konte, Bettina ; Landi, Maria-Teresa ; Laatikainen, Tiina ; Leppert, Mark ; Levy, Steven M; Mathias, Rasika A; McNeil, Daniel W; Medland, Sarah E; Montgomery, Grant W; Murray, Tanda ; Nauck, Matthias ; North, Kari E; Pare, Peter D; Pergadia, Michele ; Ruczinski, Ingo ; Salomaa, Veikko ; Viikari, Jorma ; Willemsen, Gonneke ; Barnes, Kathleen C; Boerwinkle, Eric ; Boomsma, Dorret I; Caporaso, Neil ; Edenberg, Howard J; Francks, Clyde ; Gelernter, Joel ; Grabe, Hans Jorgen ; Hops, Hyman ; Jarvelin, Marjo-Riitta ; Johannesson, Magnus ; Kendler, Kenneth S; Lehtimaki, Terho ; Magnusson, Patrik K E; Marazita, Mary L; Marchini, Jonathan ; Mitchell, Braxton D; Nothen, Markus M; Penninx, Brenda W; Raitakari, Olli ; Rietschel, Marcella ; Rujescu, Dan ; Samani, Nilesh J; Schwartz, Ann G; Shete, Sanjay ; Spitz, Margaret ; Swan, Gary E; Volzke, Henry ; Veijola, Juha ; Wei, Qingyi ; Amos, Chris ; Cannon, Dale S; Grucza, Richard ; Hatsukami, Dorothy ; Heath, Andrew ; Johnson, Eric O; Kaprio, Jaakko ; Madden, Pamela ; Martin, Nicholas G; Stevens, Victoria L; Weiss, Robert B; Kraft, Peter ; Bierut, Laura J; Ehringer, Marissa A

Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking. Journal Article

Genet Epidemiol, 37 (8), pp. 846–859, 2013, ISSN: 1098-2272 0741-0395.

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Muntoni, Sandro ; Mereu, Roberto ; Atzori, Luigi ; Mereu, Alessandra ; Galassi, Sabrina ; Corda, Stefania ; Frongia, Paola ; Angius, Efisio ; Pusceddu, Paolo ; Contu, Paolo ; Cucca, Francesco ; Congia, Mauro ; Muntoni, Sergio

High meat consumption is associated with type 1 diabetes mellitus in a Sardinian case-control study. Journal Article

Acta Diabetol, 50 (5), pp. 713–719, 2013, ISSN: 1432-5233 0940-5429.

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Orrù, Valeria; Steri, Maristella; Sole, Gabriella; Sidore, Carlo; Virdis, Francesca; Dei, Mariano; Lai, Sandra; Zoledziewska, Magdalena; Busonero, Fabio; Mulas, Antonella; Floris, Matteo; Mentzen, Wieslawa I; Urru, Silvana A M; Olla, Stefania; Marongiu, Michele; Piras, Maria G; Lobina, Monia; Maschio, Andrea; Pitzalis, Maristella; Urru, Maria F; Marcelli, Marco; Cusano, Roberto; Deidda, Francesca; Serra, Valentina; Oppo, Manuela; Pilu, Rosella; Reinier, Frederic; Berutti, Riccardo; Pireddu, Luca; Zara, Ilenia; Porcu, Eleonora; Kwong, Alan; Brennan, Christine; Tarrier, Brendan; Lyons, Robert; Kang, Hyun M; Uzzau, Sergio; Atzeni, Rossano; Valentini, Maria; Firinu, Davide; Leoni, Lidia; Rotta, Gianluca; Naitza, Silvia; Angius, Andrea; Congia, Mauro; Whalen, Michael B; Jones, Chris M; Schlessinger, David; ç, Gon; Fiorillo, Edoardo; Sanna, Serena; Cucca, Francesco

Genetic variants regulating immune cell levels in health and disease. Journal Article

Cell, 155 (1), pp. 242–56, 2013, ISSN: 1097-4172.

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Graff, Mariaelisa ; Ngwa, Julius S; Workalemahu, Tsegaselassie ; Homuth, Georg ; Schipf, Sabine ; Teumer, Alexander ; Volzke, Henry ; Wallaschofski, Henri ; Abecasis, Goncalo R; Edward, Lakatta ; Francesco, Cucca ; Sanna, Serena ; Scheet, Paul ; Schlessinger, David ; Sidore, Carlo ; Xiao, Xiangjun ; Wang, Zhaoming ; Chanock, Stephen J; Jacobs, Kevin B; Hayes, Richard B; Hu, Frank ; Van Dam, Rob M; Crout, Richard J; Marazita, Mary L; Shaffer, John R; Atwood, Larry D; Fox, Caroline S; Heard-Costa, Nancy L; White, Charles ; Choh, Audrey C; Czerwinski, Stefan A; Demerath, Ellen W; Dyer, Thomas D; Towne, Bradford ; Amin, Najaf ; Oostra, Ben A; Van Duijn, Cornelia M; Zillikens, Carola M; Esko, Tonu ; Nelis, Mari ; Nikopensius, Tit ; Metspalu, Andres ; Strachan, David P; Monda, Keri ; Qi, Lu ; North, Kari E; Cupples, Adrienne L; Gordon-Larsen, Penny ; Berndt, Sonja I

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. Journal Article

Hum Mol Genet, 22 (17), pp. 3597–3607, 2013, ISSN: 1460-2083 0964-6906.

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Francalacci, Paolo; Morelli, Laura; Angius, Andrea; Berutti, Riccardo; Reinier, Frederic; Atzeni, Rossano; Pilu, Rosella; Busonero, Fabio; Maschio, Andrea; Zara, Ilenia; Sanna, Daria; Useli, Antonella; Urru, Maria Francesca; Marcelli, Marco; Cusano, Roberto; Oppo, Manuela; Zoledziewska, Magdalena; Pitzalis, Maristella; Deidda, Francesca; Porcu, Eleonora; Poddie, Fausto; Kang, Hyun Min; Lyons, Robert; Tarrier, Brendan; Gresham, Jennifer Bragg; Li, Bingshan; Tofanelli, Sergio; Alonso, Santos; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Whalen, Michael B; Uzzau, Sergio; Jones, Chris; Schlessinger, David; ç, Gon; Sanna, Serena; Sidore, Carlo; Cucca, Francesco

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny Journal Article

Science (New York, N.Y.), 341 (6145), pp. 565–569, 2013, ISSN: 1095-9203.

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Sutin, Angelina R; Zonderman, Alan B; Uda, Manuela ; Deiana, Barbara ; Taub, Dennis D; Longo, Dan L; Ferrucci, Luigi ; Schlessinger, David ; Cucca, Francesco ; Terracciano, Antonio

Personality traits and leptin. Journal Article

Psychosom Med, 75 (5), pp. 505–509, 2013, ISSN: 1534-7796 0033-3174.

Abstract | Links | BibTeX

Meirelles, Osorio D; Ding, Jun ; Tanaka, Toshiko ; Sanna, Serena ; Yang, Hsih-Te ; Dudekula, Dawood B; Cucca, Francesco ; Ferrucci, Luigi ; Abecasis, Goncalo ; Schlessinger, David

SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits. Journal Article

Eur J Hum Genet, 21 (6), pp. 673–679, 2013, ISSN: 1476-5438 1018-4813.

Abstract | Links | BibTeX

Hek, Karin ; Demirkan, Ayse ; Lahti, Jari ; Terracciano, Antonio ; Teumer, Alexander ; Cornelis, Marilyn C; Amin, Najaf ; Bakshis, Erin ; Baumert, Jens ; Ding, Jingzhong ; Liu, Yongmei ; Marciante, Kristin ; Meirelles, Osorio ; Nalls, Michael A; Sun, Yan V; Vogelzangs, Nicole ; Yu, Lei ; Bandinelli, Stefania ; Benjamin, Emelia J; Bennett, David A; Boomsma, Dorret ; Cannas, Alessandra ; Coker, Laura H; de Geus, Eco ; De Jager, Philip L; Diez-Roux, Ana V; Purcell, Shaun ; Hu, Frank B; Rimma, Eric B; Hunter, David J; Jensen, Majken K; Curhan, Gary ; Rice, Kenneth ; Penman, Alan D; Rotter, Jerome I; Sotoodehnia, Nona ; Emeny, Rebecca ; Eriksson, Johan G; Evans, Denis A; Ferrucci, Luigi ; Fornage, Myriam ; Gudnason, Vilmundur ; Hofman, Albert ; Illig, Thomas ; Kardia, Sharon ; Kelly-Hayes, Margaret ; Koenen, Karestan ; Kraft, Peter ; Kuningas, Maris ; Massaro, Joseph M; Melzer, David ; Mulas, Antonella ; Mulder, Cornelis L; Murray, Anna ; Oostra, Ben A; Palotie, Aarno ; Penninx, Brenda ; Petersmann, Astrid ; Pilling, Luke C; Psaty, Bruce ; Rawal, Rajesh ; Reiman, Eric M; Schulz, Andrea ; Shulman, Joshua M; Singleton, Andrew B; Smith, Albert V; Sutin, Angelina R; Uitterlinden, Andre G; Volzke, Henry ; Widen, Elisabeth ; Yaffe, Kristine ; Zonderman, Alan B; Cucca, Francesco ; Harris, Tamara ; Ladwig, Karl-Heinz ; Llewellyn, David J; Raikkonen, Katri ; Tanaka, Toshiko ; van Duijn, Cornelia M; Grabe, Hans J; Launer, Lenore J; Lunetta, Kathryn L; Mosley, Thomas Jr H; Newman, Anne B; Tiemeier, Henning ; Murabito, Joanne

A genome-wide association study of depressive symptoms. Journal Article

Biol Psychiatry, 73 (7), pp. 667–678, 2013, ISSN: 1873-2402 0006-3223.

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Porcu, Eleonora ; Medici, Marco ; Pistis, Giorgio ; Volpato, Claudia B; Wilson, Scott G; Cappola, Anne R; Bos, Steffan D; Deelen, Joris ; den Heijer, Martin ; Freathy, Rachel M; Lahti, Jari ; Liu, Chunyu ; Lopez, Lorna M; Nolte, Ilja M; O'Connell, Jeffrey R; Tanaka, Toshiko ; Trompet, Stella ; Arnold, Alice ; Bandinelli, Stefania ; Beekman, Marian ; Bohringer, Stefan ; Brown, Suzanne J; Buckley, Brendan M; Camaschella, Clara ; de Craen, Anton J M; Davies, Gail ; de Visser, Marieke C H; Ford, Ian ; Forsen, Tom ; Frayling, Timothy M; Fugazzola, Laura ; Gogele, Martin ; Hattersley, Andrew T; Hermus, Ad R; Hofman, Albert ; Houwing-Duistermaat, Jeanine J; Jensen, Richard A; Kajantie, Eero ; Kloppenburg, Margreet ; Lim, Ee M; Masciullo, Corrado ; Mariotti, Stefano ; Minelli, Cosetta ; Mitchell, Braxton D; Nagaraja, Ramaiah ; Netea-Maier, Romana T; Palotie, Aarno ; Persani, Luca ; Piras, Maria G; Psaty, Bruce M; Raikkonen, Katri ; Richards, Brent J; Rivadeneira, Fernando ; Sala, Cinzia ; Sabra, Mona M; Sattar, Naveed ; Shields, Beverley M; Soranzo, Nicole ; Starr, John M; Stott, David J; Sweep, Fred C G J; Usala, Gianluca ; van der Klauw, Melanie M; van Heemst, Diana ; van Mullem, Alies ; Vermeulen, Sita H; Visser, Edward W; Walsh, John P; Westendorp, Rudi G J; Widen, Elisabeth ; Zhai, Guangju ; Cucca, Francesco ; Deary, Ian J; Eriksson, Johan G; Ferrucci, Luigi ; Fox, Caroline S; Jukema, Wouter J; Kiemeney, Lambertus A; Pramstaller, Peter P; Schlessinger, David ; Shuldiner, Alan R; Slagboom, Eline P; Uitterlinden, Andre G; Vaidya, Bijay ; Visser, Theo J; Wolffenbuttel, Bruce H R; Meulenbelt, Ingrid ; Rotter, Jerome I; Spector, Tim D; Hicks, Andrew A; Toniolo, Daniela ; Sanna, Serena ; Peeters, Robin P; Naitza, Silvia

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. Journal Article

PLoS Genet, 9 (2), pp. e1003266, 2013, ISSN: 1553-7404 1553-7390.

Abstract | Links | BibTeX

Pippucci, Tommaso ; Parmeggiani, Antonia ; Palombo, Flavia ; Maresca, Alessandra ; Angius, Andrea ; Crisponi, Laura ; Cucca, Francesco ; Liguori, Rocco ; Valentino, Maria Lucia ; Seri, Marco ; Carelli, Valerio

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. Journal Article

PLoS One, 8 (12), pp. e82154, 2013, ISSN: 1932-6203 1932-6203.

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Elhaik, Eran ; Greenspan, Elliott ; Staats, Sean ; Krahn, Thomas ; Tyler-Smith, Chris ; Xue, Yali ; Tofanelli, Sergio ; Francalacci, Paolo ; Cucca, Francesco ; Pagani, Luca ; Jin, Li ; Li, Hui ; Schurr, Theodore G; Greenspan, Bennett ; Spencer Wells, R

The GenoChip: a new tool for genetic anthropology. Journal Article

Genome Biol Evol, 5 (5), pp. 1021–1031, 2013, ISSN: 1759-6653 1759-6653.

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van der Loos, Matthijs J H M; Rietveld, Cornelius A; Eklund, Niina ; Koellinger, Philipp D; Rivadeneira, Fernando ; Abecasis, Goncalo R; Ankra-Badu, Georgina A; Baumeister, Sebastian E; Benjamin, Daniel J; Biffar, Reiner ; Blankenberg, Stefan ; Boomsma, Dorret I; Cesarini, David ; Cucca, Francesco ; de Geus, Eco J C; Dedoussis, George ; Deloukas, Panos ; Dimitriou, Maria ; Eiriksdottir, Guethny ; Eriksson, Johan ; Gieger, Christian ; Gudnason, Vilmundur ; Hohne, Birgit ; Holle, Rolf ; Hottenga, Jouke-Jan ; Isaacs, Aaron ; Jarvelin, Marjo-Riitta ; Johannesson, Magnus ; Kaakinen, Marika ; Kahonen, Mika ; Kanoni, Stavroula ; Laaksonen, Maarit A; Lahti, Jari ; Launer, Lenore J; Lehtimaki, Terho ; Loitfelder, Marisa ; Magnusson, Patrik K E; Naitza, Silvia ; Oostra, Ben A; Perola, Markus ; Petrovic, Katja ; Quaye, Lydia ; Raitakari, Olli ; Ripatti, Samuli ; Scheet, Paul ; Schlessinger, David ; Schmidt, Carsten O; Schmidt, Helena ; Schmidt, Reinhold ; Senft, Andrea ; Smith, Albert V; Spector, Timothy D; Surakka, Ida ; Svento, Rauli ; Terracciano, Antonio ; Tikkanen, Emmi ; van Duijn, Cornelia M; Viikari, Jorma ; Volzke, Henry ; Wichmann, H.-Erich ; Wild, Philipp S; Willems, Sara M; Willemsen, Gonneke ; van Rooij, Frank J A; Groenen, Patrick J F; Uitterlinden, Andre G; Hofman, Albert ; Thurik, Roy A

The molecular genetic architecture of self-employment. Journal Article

PLoS One, 8 (4), pp. e60542, 2013, ISSN: 1932-6203 1932-6203.

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Rietveld, Cornelius A; Medland, Sarah E; Derringer, Jaime ; Yang, Jian ; Esko, Tonu ; Martin, Nicolas W; Westra, Harm-Jan ; Shakhbazov, Konstantin ; [...], ; Cucca, Francesco ; de Andrade, Mariza ; De Jager, Philip L; De Neve, Jan-Emmanuel ; Deary, Ian J; Dedoussis, George V; Deloukas, Panos ; Dimitriou, Maria ; Eiriksdottir, Guethny ; Elderson, Martin F; Eriksson, Johan G; Evans, David M; Faul, Jessica D; Ferrucci, Luigi ; Garcia, Melissa E; Gronberg, Henrik ; Guethnason, Vilmundur ; Hall, Per ; Harris, Juliette M; Harris, Tamara B; Hastie, Nicholas D; Heath, Andrew C; Hernandez, Dena G; Hoffmann, Wolfgang ; Hofman, Adriaan ; Holle, Rolf ; Holliday, Elizabeth G; Hottenga, Jouke-Jan ; Iacono, William G; Illig, Thomas ; Jarvelin, Marjo-Riitta ; Kahonen, Mika ; Kaprio, Jaakko ; Kirkpatrick, Robert M; Kowgier, Matthew ; Latvala, Antti ; Launer, Lenore J; Lawlor, Debbie A; Lehtimaki, Terho ; Li, Jingmei ; Lichtenstein, Paul ; Lichtner, Peter ; Liewald, David C; Madden, Pamela A; Magnusson, Patrik K E; Makinen, Tomi E; Masala, Marco ; McGue, Matt ; Metspalu, Andres ; Mielck, Andreas ; Miller, Michael B; Montgomery, Grant W; Mukherjee, Sutapa ; Nyholt, Dale R; Oostra, Ben A; Palmer, Lyle J; Palotie, Aarno ; Penninx, Brenda W J H; Perola, Markus ; Peyser, Patricia A; Preisig, Martin ; Raikkonen, Katri ; Raitakari, Olli T; Realo, Anu ; Ring, Susan M; Ripatti, Samuli ; Rivadeneira, Fernando ; Rudan, Igor ; Rustichini, Aldo ; Salomaa, Veikko ; Sarin, Antti-Pekka ; Schlessinger, David ; Scott, Rodney J; Snieder, Harold ; St Pourcain, Beate ; Starr, John M; Sul, Jae Hoon ; Surakka, Ida ; Svento, Rauli ; Teumer, Alexander ; Tiemeier, Henning ; van Rooij, Frank J A; Van Wagoner, David R; Vartiainen, Erkki ; Viikari, Jorma ; Vollenweider, Peter ; Vonk, Judith M; Waeber, Gerard ; Weir, David R; Wichmann, H.-Erich ; Widen, Elisabeth ; Willemsen, Gonneke ; Wilson, James F; Wright, Alan F; Conley, Dalton ; Davey-Smith, George ; Franke, Lude ; Groenen, Patrick J F; Hofman, Albert ; Johannesson, Magnus ; Kardia, Sharon L R; Krueger, Robert F; Laibson, David ; Martin, Nicholas G; Meyer, Michelle N; Posthuma, Danielle ; Thurik, Roy A; Timpson, Nicholas J; Uitterlinden, Andre G; van Duijn, Cornelia M; Visscher, Peter M; Benjamin, Daniel J; Cesarini, David ; Koellinger, Philipp D

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Journal Article

Science, 340 (6139), pp. 1467–1471, 2013, ISSN: 1095-9203 0036-8075.

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2012

Fozza, Claudio ; Contini, Salvatore ; Corda, Giovanna ; Virdis, Patrizia ; Galleu, Antonio ; Bonfigli, Silvana ; Pacifico, Adolfo ; Maioli, Mario ; Mastinu, Francesco ; Pitzalis, Maristella ; Cucca, Francesco ; Longinotti, Maurizio

T-cell receptor repertoire analysis in monozygotic twins concordant and discordant for type 1 diabetes. Journal Article

Immunobiology, 217 (9), pp. 920–925, 2012, ISSN: 1878-3279 0171-2985.

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Cagliani, R; Guerini, F R; Fumagalli, M; Riva, S; Agliardi, C; Galimberti, D; Pozzoli, U; Goris, A; Dubois, B; Fenoglio, C; Forni, D; Sanna, S; Zara, I; Pitzalis, M; Zoledziewska, M; Cucca, F; Marini, F; Comi, G P; Scarpini, E; Bresolin, N; Clerici, M; Sironi, M

A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis. Journal Article

Mol Biol Evol, 29 (6), pp. 1599–1613, 2012, ISSN: 1537-1719 0737-4038.

Abstract | Links | BibTeX

Fozza, Claudio ; Zoledzieska, Magdalena ; Pitzalis, Maristella ; Simula, Maria Pina ; Galleu, Antonio ; Contini, Salvatore ; Bonfigli, Silvana ; Cucca, Francesco ; Longinotti, Maurizio

TCRBV20S1 polymorphism does not influence the susceptibility to type 1 diabetes and multiple sclerosis in the Sardinian population. Journal Article

Immunogenetics, 64 (2), pp. 153–154, 2012, ISSN: 1432-1211 0093-7711.

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Naitza, Silvia ; Porcu, Eleonora ; Steri, Maristella ; Taub, Dennis D; Mulas, Antonella ; Xiao, Xiang ; Strait, James ; Dei, Mariano ; Lai, Sandra ; Busonero, Fabio ; Maschio, Andrea ; Usala, Gianluca ; Zoledziewska, Magdalena ; Sidore, Carlo ; Zara, Ilenia ; Pitzalis, Maristella ; Loi, Alessia ; Virdis, Francesca ; Piras, Roberta ; Deidda, Francesca ; Whalen, Michael B; Crisponi, Laura ; Concas, Antonio ; Podda, Carlo ; Uzzau, Sergio ; Scheet, Paul ; Longo, Dan L; Lakatta, Edward ; Abecasis, Gon{ç}alo R; Cao, Antonio ; Schlessinger, David ; Uda, Manuela ; Sanna, Serena ; Cucca, Francesco

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. Journal Article

PLoS genetics, 8 (1), pp. e1002480, 2012, ISSN: 1553-7404.

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Li, Bingshan ; Chen, Wei ; Zhan, Xiaowei ; Busonero, Fabio ; Sanna, Serena ; Sidore, Carlo ; Cucca, Francesco ; Kang, Hyun M; Abecasis, Goncalo R

A likelihood-based framework for variant calling and de novo mutation detection in families. Journal Article

PLoS Genet, 8 (10), pp. e1002944, 2012, ISSN: 1553-7404 1553-7390.

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Matesanz, Fuencisla ; Gonzalez-Perez, Antonio ; Lucas, Miguel ; Sanna, Serena ; Gayan, Javier ; Urcelay, Elena ; Zara, Ilenia ; Pitzalis, Maristella ; Cavanillas, Maria L; Arroyo, Rafael ; Zoledziewska, Magdalena ; Marrosu, Marisa ; Fernandez, Oscar ; Leyva, Laura ; Alcina, Antonio ; Fedetz, Maria ; Moreno-Rey, Concha ; Velasco, Juan ; Real, Luis M; Ruiz-Pena, Juan Luis ; Cucca, Francesco ; Ruiz, Agustin ; Izquierdo, Guillermo

Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1. Journal Article

PLoS One, 7 (5), pp. e36140, 2012, ISSN: 1932-6203 1932-6203.

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Voight, Benjamin F; Kang, Hyun Min ; Ding, Jun ; Palmer, Cameron D; Sidore, Carlo ; Chines, Peter S; Burtt, Noel P; Fuchsberger, Christian ; Li, Yanming ; Erdmann, Jeanette ; Frayling, Timothy M; Heid, Iris M; Jackson, Anne U; Johnson, Toby ; Kilpelainen, Tuomas O; Lindgren, Cecilia M; Morris, Andrew P; Prokopenko, Inga ; Randall, Joshua C; Saxena, Richa ; Soranzo, Nicole ; Speliotes, Elizabeth K; Teslovich, Tanya M; Wheeler, Eleanor ; Maguire, Jared ; Parkin, Melissa ; Potter, Simon ; Rayner, William N; Robertson, Neil ; Stirrups, Kathleen ; Winckler, Wendy ; Sanna, Serena ; Mulas, Antonella ; Nagaraja, Ramaiah ; Cucca, Francesco ; Barroso, Ines ; Deloukas, Panos ; Loos, Ruth J F; Kathiresan, Sekar ; Munroe, Patricia B; Newton-Cheh, Christopher ; Pfeufer, Arne ; Samani, Nilesh J; Schunkert, Heribert ; Hirschhorn, Joel N; Altshuler, David ; McCarthy, Mark I; Abecasis, Goncalo R; Boehnke, Michael

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. Journal Article

PLoS Genet, 8 (8), pp. e1002793, 2012, ISSN: 1553-7404 1553-7390.

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2011

Hunt, Karen A; Smyth, Deborah J; Balschun, Tobias ; Ban, Maria ; Mistry, Vanisha ; Ahmad, Tariq ; Anand, Vidya ; Barrett, Jeffrey C; Bhaw-Rosun, Leena ; Bockett, Nicholas A; Brand, Oliver J; Brouwer, Elisabeth ; Concannon, Patrick ; Cooper, Jason D; Dias, Kerith-Rae M; van Diemen, Cleo C; Dubois, Patrick C; Edkins, Sarah ; Folster-Holst, Regina ; Fransen, Karin ; Glass, David N; Heap, Graham A R; Hofmann, Sylvia ; Huizinga, Tom W J; Hunt, Sarah ; Langford, Cordelia ; Lee, James ; Mansfield, John ; Marrosu, Maria Giovanna ; Mathew, Christopher G; Mein, Charles A; Muller-Quernheim, Joachim ; Nutland, Sarah ; Onengut-Gumuscu, Suna ; Ouwehand, Willem ; Pearce, Kerra ; Prescott, Natalie J; Posthumus, Marcel D; Potter, Simon ; Rosati, Giulio ; Sambrook, Jennifer ; Satsangi, Jack ; Schreiber, Stefan ; Shtir, Corina ; Simmonds, Matthew J; Sudman, Marc ; Thompson, Susan D; Toes, Rene ; Trynka, Gosia ; Vyse, Timothy J; Walker, Neil M; Weidinger, Stephan ; Zhernakova, Alexandra ; Zoledziewska, Magdalena ; Weersma, Rinse K; Gough, Stephen C L; Sawcer, Stephen ; Wijmenga, Cisca ; Parkes, Miles ; Cucca, Francesco ; Franke, Andre ; Deloukas, Panos ; Rich, Stephen S; Todd, John A; van Heel, David A

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Journal Article

Nat Genet, 44 (1), pp. 3–5, 2011, ISSN: 1546-1718 1061-4036.

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Chambers, John C; Zhang, Weihua ; Sehmi, Joban ; Li, Xinzhong ; Wass, Mark N; Van der Harst, Pim ; Holm, Hilma ; Sanna, Serena ; Kavousi, Maryam ; Baumeister, Sebastian E; Coin, Lachlan J; Deng, Guohong ; Gieger, Christian ; Heard-Costa, Nancy L; Hottenga, Jouke-Jan ; Kuhnel, Brigitte ; Kumar, Vinod ; Lagou, Vasiliki ; Liang, Liming ; Luan, Jian'an ; Vidal, Pedro Marques ; Mateo Leach, Irene ; O'Reilly, Paul F; Peden, John F; Rahmioglu, Nilufer ; Soininen, Pasi ; Speliotes, Elizabeth K; Yuan, Xin ; Thorleifsson, Gudmar ; Alizadeh, Behrooz Z; Atwood, Larry D; Borecki, Ingrid B; Brown, Morris J; Charoen, Pimphen ; Cucca, Francesco ; Das, Debashish ; de Geus, Eco J C; Dixon, Anna L; Doring, Angela ; Ehret, Georg ; Eyjolfsson, Gudmundur I; Farrall, Martin ; Forouhi, Nita G; Friedrich, Nele ; Goessling, Wolfram ; Gudbjartsson, Daniel F; Harris, Tamara B; Hartikainen, Anna-Liisa ; Heath, Simon ; Hirschfield, Gideon M; Hofman, Albert ; Homuth, Georg ; Hypponen, Elina ; Janssen, Harry L A; Johnson, Toby ; Kangas, Antti J; Kema, Ido P; Kuhn, Jens P; Lai, Sandra ; Lathrop, Mark ; Lerch, Markus M; Li, Yun ; Liang, Jake T; Lin, Jing-Ping ; Loos, Ruth J F; Martin, Nicholas G; Moffatt, Miriam F; Montgomery, Grant W; Munroe, Patricia B; Musunuru, Kiran ; Nakamura, Yusuke ; O'Donnell, Christopher J; Olafsson, Isleifur ; Penninx, Brenda W; Pouta, Anneli ; Prins, Bram P; Prokopenko, Inga ; Puls, Ralf ; Ruokonen, Aimo ; Savolainen, Markku J; Schlessinger, David ; Schouten, Jeoffrey N L; Seedorf, Udo ; Sen-Chowdhry, Srijita ; Siminovitch, Katherine A; Smit, Johannes H; Spector, Timothy D; Tan, Wenting ; Teslovich, Tanya M; Tukiainen, Taru ; Uitterlinden, Andre G; Van der Klauw, Melanie M; Vasan, Ramachandran S; Wallace, Chris ; Wallaschofski, Henri ; Wichmann, H.-Erich ; Willemsen, Gonneke ; Wurtz, Peter ; Xu, Chun ; Yerges-Armstrong, Laura M; Abecasis, Goncalo R; Ahmadi, Kourosh R; Boomsma, Dorret I; Caulfield, Mark ; Cookson, William O; van Duijn, Cornelia M; Froguel, Philippe ; Matsuda, Koichi ; McCarthy, Mark I; Meisinger, Christa ; Mooser, Vincent ; Pietilainen, Kirsi H; Schumann, Gunter ; Snieder, Harold ; Sternberg, Michael J E; Stolk, Ronald P; Thomas, Howard C; Thorsteinsdottir, Unnur ; Uda, Manuela ; Waeber, Gerard ; Wareham, Nicholas J; Waterworth, Dawn M; Watkins, Hugh ; Whitfield, John B; Witteman, Jacqueline C M; Wolffenbuttel, Bruce H R; Fox, Caroline S; Ala-Korpela, Mika ; Stefansson, Kari ; Vollenweider, Peter ; Volzke, Henry ; Schadt, Eric E; Scott, James ; Jarvelin, Marjo-Riitta ; Elliott, Paul ; Kooner, Jaspal S

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Journal Article

Nat Genet, 43 (11), pp. 1131–1138, 2011, ISSN: 1546-1718 1061-4036.

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Terracciano, A; Esko, T; Sutin, A R; de Moor, M H M; Meirelles, O; Zhu, G; Tanaka, T; Giegling, I; Nutile, T; Realo, A; Allik, J; Hansell, N K; Wright, M J; Montgomery, G W; Willemsen, G; Hottenga, J -J; Friedl, M; Ruggiero, D; Sorice, R; Sanna, S; Cannas, A; Raikkonen, K; Widen, E; Palotie, A; Eriksson, J G; Cucca, F; Krueger, R F; Lahti, J; Luciano, M; Smoller, J W; van Duijn, C M; Abecasis, G R; Boomsma, D I; Ciullo, M; Costa, Jr P T; Ferrucci, L; Martin, N G; Metspalu, A; Rujescu, D; Schlessinger, D; Uda, M

Meta-analysis of genome-wide association studies identifies common variants in CTNNA2 associated with excitement-seeking. Journal Article

Transl Psychiatry, 1 , pp. e49, 2011, ISSN: 2158-3188 2158-3188.

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Sanna, Serena ; Li, Bingshan ; Mulas, Antonella ; Sidore, Carlo ; Kang, Hyun M; Jackson, Anne U; Piras, Maria Grazia ; Usala, Gianluca ; Maninchedda, Giuseppe ; Sassu, Alessandro ; Serra, Fabrizio ; Palmas, Maria Antonietta ; Wood, William 3rd H; Njolstad, Inger ; Laakso, Markku ; Hveem, Kristian ; Tuomilehto, Jaakko ; Lakka, Timo A; Rauramaa, Rainer ; Boehnke, Michael ; Cucca, Francesco ; Uda, Manuela ; Schlessinger, David ; Nagaraja, Ramaiah ; Abecasis, Goncalo R

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. Journal Article

PLoS Genet, 7 (7), pp. e1002198, 2011, ISSN: 1553-7404 1553-7390.

Abstract | Links | BibTeX

Fozza, Claudio ; Poddie, Fausto ; Contini, Salvatore ; Galleu, Antonio ; Cottoni, Francesca ; Longinotti, Maurizio ; Cucca, Francesco

Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral Ŧ-Cell Lymphoma: More Than a Random Association? Journal Article

Case Rep Hematol, 2011 , pp. 848461, 2011, ISSN: 2090-6579 2090-6579.

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2010

Sanna, Serena ; Pitzalis, Maristella ; Zoledziewska, Magdalena ; Zara, Ilenia ; Sidore, Carlo ; Murru, Raffaele ; Whalen, Michael B; Busonero, Fabio ; Maschio, Andrea ; Costa, Gianna ; Melis, Maria Cristina ; Deidda, Francesca ; Poddie, Fausto ; Morelli, Laura ; Farina, Gabriele ; Li, Yun ; Dei, Mariano ; Lai, Sandra ; Mulas, Antonella ; Cuccuru, Gianmauro ; Porcu, Eleonora ; Liang, Liming ; Zavattari, Patrizia ; Moi, Loredana ; Deriu, Elisa ; Urru, Francesca M; Bajorek, Michele ; Satta, Maria Anna ; Cocco, Eleonora ; Ferrigno, Paola ; Sotgiu, Stefano ; Pugliatti, Maura ; Traccis, Sebastiano ; Angius, Andrea ; Melis, Maurizio ; Rosati, Giulio ; Abecasis, Gon{ç}alo R; Uda, Manuela ; Marrosu, Maria Giovanna ; Schlessinger, David ; Cucca, Francesco

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Journal Article

Nature genetics, 42 (6), pp. 495–7, 2010, ISSN: 1546-1718.

Abstract | Links | BibTeX

Morelli, Laura ; Contu, Daniela ; Santoni, Federico ; Whalen, Michael B; Francalacci, Paolo ; Cucca, Francesco

A comparison of Y-chromosome variation in Sardinia and Anatolia is more consistent with cultural rather than demic diffusion of agriculture. Journal Article

PLoS One, 5 (4), pp. e10419, 2010, ISSN: 1932-6203 1932-6203.

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Maioli, M; Pes, G M; Delitala, G; Puddu, L; Falorni, A; Tolu, F; Lampis, R; Orru, V; Secchi, G; Cicalo, A M; Floris, R; Madau, G F; Pilosu, R M; Whalen, M; Cucca, F

Number of autoantibodies and HLA genotype, more than high titers of glutamic acid decarboxylase autoantibodies, predict insulin dependence in latent autoimmune diabetes of adults. Journal Article

Eur J Endocrinol, 163 (4), pp. 541–549, 2010, ISSN: 1479-683X 0804-4643.

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2009

Zoledziewska, M; Costa, G; Pitzalis, M; Cocco, E; Melis, C; Moi, L; Zavattari, P; Murru, R; Lampis, R; Morelli, L; Poddie, F; Frongia, P; Pusceddu, P; Bajorek, M; Marras, A; Satta, A M; Chessa, A; Pugliatti, M; Sotgiu, S; Whalen, M B; Rosati, G; Cucca, F; Marrosu, M G

Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia. Journal Article

Genes and immunity, 10 (1), pp. 15–7, 2009, ISSN: 1476-5470.

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2008

Zoledziewska, Magdalena ; Perra, Chiara ; Orr{ù}, Valeria ; Moi, Loredana ; Frongia, Paola ; Congia, Mauro ; Bottini, Nunzio ; Cucca, Francesco

Further evidence of a primary, causal association of the PTPN22 620W variant with type 1 diabetes. Journal Article

Diabetes, 57 (1), pp. 229–34, 2008, ISSN: 1939-327X.

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Pitzalis, Maristella ; Zavattari, Patrizia ; Murru, Raffaele ; Deidda, Elisabetta ; Zoledziewska, Magdalena ; Murru, Daniela ; Moi, Loredana ; Motzo, Costantino ; Orru, Valeria ; Costa, Gianna ; Solla, Elisabetta ; Fadda, Elisabetta ; Schirru, Lucia ; Melis, Maria Cristina ; Lai, Marina ; Mancosu, Cristina ; Tranquilli, Stefania ; Cuccu, Stefania ; Rolesu, Marcella ; Secci, Maria Antonietta ; Corongiu, Daniela ; Contu, Daniela ; Lampis, Rosanna ; Nucaro, Annalisa ; Pala, Gavino ; Pacifico, Adolfo ; Maioli, Mario ; Frongia, Paola ; Chessa, Margherita ; Ricciardi, Rossella ; Lostia, Stanislao ; Marinaro, Anna Maria ; Milia, Anna Franca ; Landis, Novella ; Zedda, Maria Antonietta ; Whalen, Michael B; Santoni, Federico ; Marrosu, Maria Giovanna ; Devoto, Marcella ; Cucca, Francesco

Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia. Journal Article

BMC Med Genet, 9 , pp. 3, 2008, ISSN: 1471-2350 1471-2350.

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Contu, Daniela ; Morelli, Laura ; Santoni, Federico ; Foster, Jamie W; Francalacci, Paolo ; Cucca, Francesco

Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans. Journal Article

PLoS One, 3 (1), pp. e1430, 2008, ISSN: 1932-6203 1932-6203.

Abstract | Links | BibTeX

2007

Schirru, Enrico ; Corona, Valeria ; Usai-Satta, Paolo ; Scarpa, Maria ; Cucca, Francesco ; De Virgiliis, Stefano ; Rossino, Rossano ; Frau, Fulvia ; Macis, Maria Doloretta ; Jores, Rita-Desiree ; Congia, Mauro

Decline of lactase activity and c/t-13910 variant in Sardinian childhood. Journal Article

J Pediatr Gastroenterol Nutr, 45 (4), pp. 503–506, 2007, ISSN: 1536-4801 0277-2116.

Abstract | Links | BibTeX

Schirru, E; Corona, V; Usai-Satta, P; Scarpa, M; Oppia, F; Loriga, F; Cucca, F; De Virgiliis, S; Rossino, R; Macis, Doloretta M; Jores, R -D; Congia, M

Genetic testing improves the diagnosis of adult type hypolactasia in the Mediterranean population of Sardinia. Journal Article

Eur J Clin Nutr, 61 (10), pp. 1220–1225, 2007, ISSN: 0954-3007 0954-3007.

Abstract | Links | BibTeX

Thomson, G; Valdes, A M; Noble, J A; Kockum, I; Grote, M N; Najman, J; Erlich, H A; Cucca, F; Pugliese, A; Steenkiste, A; Dorman, J S; Caillat-Zucman, S; Hermann, R; Ilonen, J; Lambert, A P; Bingley, P J; Gillespie, K M; Lernmark, A; Sanjeevi, C B; Ronningen, K S; Undlien, D E; Thorsby, E; Petrone, A; Buzzetti, R; Koeleman, B P C; Roep, B O; Saruhan-Direskeneli, G; Uyar, F A; Gunoz, H; Gorodezky, C; Alaez, C; Boehm, B O; Mlynarski, W; Ikegami, H; Berrino, M; Fasano, M E; Dametto, E; Israel, S; Brautbar, C; Santiago-Cortes, A; Frazer de Llado, T; She, J -X; Bugawan, T L; Rotter, J I; Raffel, L; Zeidler, A; Leyva-Cobian, F; Hawkins, B R; Chan, S H; Castano, L; Pociot, F; Nerup, J

Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: a meta-analysis. Journal Article

Tissue Antigens, 70 (2), pp. 110–127, 2007, ISSN: 0001-2815 0001-2815.

Abstract | Links | BibTeX

Sellaroli, Valentina ; Cucca, Francesco ; Santosuosso, Amedeo

Shared genetic data and the rights of involved people. Journal Article

Rev Derecho Genoma Hum, (26), pp. 193–231, 2007, ISSN: 1134-7198 1134-7198.

Abstract | BibTeX

Bonfigli, Silvana ; Fozza, Claudio ; Contini, Salvatore ; Buzzetti, Raffaella ; Cucca, Francesco ; Longinotti, Maurizio

High frequency of the TCRBV20S1 null allele in the Sardinian population. Journal Article

Hum Immunol, 68 (5), pp. 426–429, 2007, ISSN: 0198-8859 0198-8859.

Abstract | Links | BibTeX

Marrosu, Maria Giovanna ; Murru, Raffaele ; Costa, Gianna ; Melis, Maria Cristina ; Rolesu, Marcella ; Schirru, Lucia ; Solla, Elisabetta ; Cuccu, Stefania ; Secci, Maria Antonietta ; Whalen, Michael B; Cocco, Eleonora ; Pugliatti, Maura ; Sotgiu, Stefano ; Rosati, Giulio ; Cucca, Francesco

Variation of the myelin oligodendrocyte glycoprotein gene is not primarily associated with multiple sclerosis in the Sardinian population. Journal Article

BMC Genet, 8 , pp. 25, 2007, ISSN: 1471-2156 1471-2156.

Abstract | Links | BibTeX

Jores, Rita-Desiree ; Frau, Fulvia ; Cucca, Francesco ; Grazia Clemente, Maria ; Orru, Sandra ; Rais, Marco ; De Virgiliis, Stefano ; Congia, Mauro

HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease. Journal Article

Scand J Gastroenterol, 42 (1), pp. 48–53, 2007, ISSN: 0036-5521 0036-5521.

Abstract | Links | BibTeX

2006

Orofino, Maria Grazia ; Contu, Daniela ; Argiolu, Francesca ; Sanna, Maria Adele ; Gaziev, Javid ; La Nasa, Giorgio ; Vacca, Adriana ; Cao, Antonio ; Cucca, Francesco

No influence of chromosome Y haplogroup variation in acute graft-versus-host disease in sardinia. Journal Article

Transplantation, 82 (11), pp. 1529–1532, 2006, ISSN: 0041-1337 0041-1337.

Abstract | Links | BibTeX

Bottini, Nunzio ; Vang, Torkel ; Cucca, Francesco ; Mustelin, Tomas

Role of PTPN22 in type 1 diabetes and other autoimmune diseases Journal Article

Seminars in Immunology, 18 (4), pp. 207–213, 2006, ISSN: 10445323.

Abstract | Links | BibTeX

Sapone, Anna ; de Magistris, Laura ; Pietzak, Michelle ; Clemente, Maria G; Tripathi, Amit ; Cucca, Francesco ; Lampis, Rosanna ; Kryszak, Deborah ; Carteni, Maria ; Generoso, Maddalena ; Iafusco, Dario ; Prisco, Francesco ; Laghi, Francesca ; Riegler, Gabriele ; Carratu, Romano ; Counts, Debra ; Fasano, Alessio

Zonulin upregulation is associated with increased gut permeability in subjects with type 1 diabetes and their relatives. Journal Article

Diabetes, 55 (5), pp. 1443–1449, 2006, ISSN: 0012-1797 0012-1797.

Abstract | BibTeX

2005

Vang, Torkel ; Congia, Mauro ; Macis, Maria Doloretta ; Musumeci, Lucia ; Orr{ú}, Valeria ; Zavattari, Patrizia ; Nika, Konstantina ; Tautz, Lutz ; Task{é}n, Kjetil ; Cucca, Francesco ; Mustelin, Tomas ; Bottini, Nunzio

Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Journal Article

Nature genetics, 37 (12), pp. 1317–9, 2005, ISSN: 1061-4036.

Abstract | Links | BibTeX

Vang, Torkel ; Congia, Mauro ; Macis, Maria Doloretta ; Musumeci, Lucia ; Orru, Valeria ; Zavattari, Patrizia ; Nika, Konstantina ; Tautz, Lutz ; Tasken, Kjetil ; Cucca, Francesco ; Mustelin, Tomas ; Bottini, Nunzio

Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Journal Article

Nat Genet, 37 (12), pp. 1317–1319, 2005, ISSN: 1061-4036 1061-4036.

Abstract | Links | BibTeX

2004

Motzo, Costantino ; Contu, Daniela ; Cordell, Heather J; Lampis, Rosanna ; Congia, Mauro ; Marrosu, Maria Giovanna ; Todd, John A; Devoto, Marcella ; Cucca, Francesco

Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes. Journal Article

Diabetes, 53 (12), pp. 3286–3291, 2004, ISSN: 0012-1797 0012-1797.

Abstract | BibTeX

Marrosu, Maria Giovanna ; Motzo, Costantino ; Murru, Raffaele ; Lampis, Rosanna ; Costa, Gianna ; Zavattari, Patrizia ; Contu, Daniela ; Fadda, Elisabetta ; Cocco, Eleonora ; Cucca, Francesco

The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone. Journal Article

Human molecular genetics, 13 (23), pp. 2919–24, 2004, ISSN: 0964-6906.

Abstract | Links | BibTeX

Koeleman, B P C; Lie, B A; Undlien, D E; Dudbridge, F; Thorsby, E; de Vries, R R P; Cucca, F; Roep, B O; Giphart, M J; Todd, J A

Genotype effects and epistasis in type 1 diabetes and HLA-DQ trans dimer associations with disease. Journal Article

Genes Immun, 5 (5), pp. 381–388, 2004, ISSN: 1466-4879 1466-4879.

Abstract | Links | BibTeX

Zavattari, Patrizia ; Deidda, Elisabetta ; Pitzalis, Maristella ; Zoa, Barbara ; Moi, Loredana ; Lampis, Rosanna ; Contu, Daniela ; Motzo, Costantino ; Frongia, Paola ; Angius, Efisio ; Maioli, Mario ; Todd, John A; Cucca, Francesco

No association between variation of the FOXP3 gene and common type 1 diabetes in the Sardinian population. Journal Article

Diabetes, 53 (7), pp. 1911–1914, 2004, ISSN: 0012-1797 0012-1797.

Abstract | BibTeX

2003

Maier, L M; Twells, R C J; Howson, J M M; Lam, A C; Clayton, D G; Smyth, D J; Savage, D; Carson, D; Patterson, C C; Smink, L J; Walker, N M; Burren, O S; Nutland, S; Rance, H; Tuomilehto-Wolf, E; Tuomilehto, J; Guja, C; Ionescu-Tirgoviste, C; Undlien, D E; Ronningen, K S; Cucca, F; Todd, J A

Testing the possible negative association of type 1 diabetes and atopic disease by analysis of the interleukin 4 receptor gene. Journal Article

Genes Immun, 4 (7), pp. 469–475, 2003, ISSN: 1466-4879 1466-4879.

Abstract | Links | BibTeX

Cucca, F; Contu, D; Zavattari, P; Murru, D

[Correlation between major histocompatibility complex (MHC)-class II and type 1 diabetes]. Journal Article

Minerva Endocrinol, 28 (2), pp. 111–122, 2003, ISSN: 0391-1977 0391-1977.

Abstract | BibTeX

Ueda, Hironori ; Howson, Joanna M M; Esposito, Laura ; Heward, Joanne ; Snook, Hywel ; Chamberlain, Giselle ; Rainbow, Daniel B; Hunter, Kara M D; Smith, Annabel N; Di Genova, Gianfranco ; Herr, Mathias H; Dahlman, Ingrid ; Payne, Felicity ; Smyth, Deborah ; Lowe, Christopher ; Twells, Rebecca C J; Howlett, Sarah ; Healy, Barry ; Nutland, Sarah ; Rance, Helen E; Everett, Vin ; Smink, Luc J; Lam, Alex C; Cordell, Heather J; Walker, Neil M; Bordin, Cristina ; Hulme, John ; Motzo, Costantino ; Cucca, Francesco ; Hess, Fred J; Metzker, Michael L; Rogers, Jane ; Gregory, Simon ; Allahabadia, Amit ; Nithiyananthan, Ratnasingam ; Tuomilehto-Wolf, Eva ; Tuomilehto, Jaakko ; Bingley, Polly ; Gillespie, Kathleen M; Undlien, Dag E; Ronningen, Kjersti S; Guja, Cristian ; Ionescu-Tirgoviste, Constantin ; Savage, David A; Maxwell, Peter A; Carson, Dennis J; Patterson, Chris C; Franklyn, Jayne A; Clayton, David G; Peterson, Laurence B; Wicker, Linda S; Todd, John A; Gough, Stephen C L

Association of the Ŧ-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Journal Article

Nature, 423 (6939), pp. 506–511, 2003, ISSN: 0028-0836 0028-0836.

Abstract | Links | BibTeX

2002

Contu, Daniela ; Morelli, Laura ; Zavattari, Patrizia ; Lampis, Rosanna ; Angius, Efisio ; Frongia, Paola ; Murru, Daniela ; Maioli, Mario ; Francalacci, Paolo ; Todd, John A; Cucca, Francesco

Sex-related bias and exclusion mapping of the nonrecombinant portion of chromosome Y in human type 1 diabetes in the isolated founder population of Sardinia. Journal Article

Diabetes, 51 (12), pp. 3573–3576, 2002, ISSN: 0012-1797 0012-1797.

Abstract | BibTeX

Dahlman, Ingrid ; Eaves, Iain A; Kosoy, Roman ; Morrison, Anne V; Heward, Joanne ; Gough, Stephen C L; Allahabadia, Amit ; Franklyn, Jayne A; Tuomilehto, Jaakko ; Tuomilehto-Wolf, Eva ; Cucca, Francesco ; Guja, Cristian ; Ionescu-Tirgoviste, Constantin ; Stevens, Helen ; Carr, Philippa ; Nutland, Sarah ; McKinney, Patricia ; Shield, Julian P; Wang, William ; Cordell, Heather J; Walker, Neil ; Todd, John A; Concannon, Patrick

Parameters for reliable results in genetic association studies in common disease. Journal Article

Nat Genet, 30 (2), pp. 149–150, 2002, ISSN: 1061-4036 1061-4036.

Abstract | Links | BibTeX

2001

Marrosu, M G; Murru, R; Murru, M R; Costa, G; Zavattari, P; Whalen, M; Cocco, E; Mancosu, C; Schirru, L; Solla, E; Fadda, E; Melis, C; Porru, I; Rolesu, M; Cucca, F

Dissection of the HLA association with multiple sclerosis in the founder isolated population of Sardinia. Journal Article

Human molecular genetics, 10 (25), pp. 2907–16, 2001, ISSN: 0964-6906.

Abstract | Links | BibTeX

Catassi, C; Doloretta Macis, M; Ratsch, I M; De Virgiliis, S; Cucca, F

The distribution of DQ genes in the Saharawi population provides only a partial explanation for the high celiac disease prevalence. Journal Article

Tissue Antigens, 58 (6), pp. 402–406, 2001, ISSN: 0001-2815 0001-2815.

Abstract | BibTeX

Cucca, F; Lampis, R; Congia, M; Angius, E; Nutland, S; Bain, S C; Barnett, A H; Todd, J A

A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins. Journal Article

Human molecular genetics, 10 (19), pp. 2025–37, 2001, ISSN: 0964-6906.

Abstract | Links | BibTeX

Pociot, F; Larsen, Z M; Zavattari, P; Deidda, E; Nerup, J; Cattaneo, M; Chiaramonte, R; Comi, P; Sabbadini, M; Zollo, M; Biunno, I; Cucca, F

No evidence for SEL1L as a candidate gene for IDDM11-conferred susceptibility. Journal Article

Diabetes Metab Res Rev, 17 (4), pp. 292–295, 2001, ISSN: 1520-7552 1520-7552.

Abstract | BibTeX

Cucca, F; Dudbridge, F; Loddo, M; Mulargia, A P; Lampis, R; Angius, E; {De Virgiliis}, S; Koeleman, B P; Bain, S C; Barnett, A H; Gilchrist, F; Cordell, H; Welsh, K; Todd, J A

The HLA-DPB1--associated component of the IDDM1 and its relationship to the major loci HLA-DQB1, -DQA1, and -DRB1. Journal Article

Diabetes, 50 (5), pp. 1200–5, 2001, ISSN: 0012-1797.

Abstract | Links | BibTeX

Zavattari, P; Lampis, R; Motzo, C; Loddo, M; Mulargia, A; Whalen, M; Maioli, M; Angius, E; Todd, J A; Cucca, F

Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1, -DRB1 disease loci. Journal Article

Human molecular genetics, 10 (8), pp. 881–9, 2001, ISSN: 0964-6906.

Abstract | Links | BibTeX

Cucca, F; Lampis, R; Congia, M; Angius, E; Nutland, S; Bain, S C; Barnett, A H; Todd, J A

A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins. Journal Article

Hum Mol Genet, 10 (19), pp. 2025–2037, 2001, ISSN: 0964-6906 0964-6906.

Abstract | BibTeX

Merriman, T R; Cordell, H J; Eaves, I A; Danoy, P A; Coraddu, F; Barber, R; Cucca, F; Broadley, S; Sawcer, S; Compston, A; Wordsworth, P; Shatford, J; Laval, S; Jirholt, J; Holmdahl, R; Theofilopoulos, A N; Kono, D H; Tuomilehto, J; Tuomilehto-Wolf, E; Buzzetti, R; Marrosu, M G; Undlien, D E; Ronningen, K S; Ionesco-Tirgoviste, C; Shield, J P; Pociot, F; Nerup, J; Jacob, C O; Polychronakos, C; Bain, S C; Todd, J A

Suggestive evidence for association of human chromosome 18q12-q21 and its orthologue on rat and mouse chromosome 18 with several autoimmune diseases. Journal Article

Diabetes, 50 (1), pp. 184–194, 2001, ISSN: 0012-1797 0012-1797.

Abstract | BibTeX

2000

Zavattari, P; Lampis, R; Mulargia, A; Loddo, M; Angius, E; Todd, J A; Cucca, F

Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia. Journal Article

Human molecular genetics, 9 (20), pp. 2967–72, 2000, ISSN: 0964-6906.

Abstract | Links | BibTeX

Zavattari, P; Deidda, E; Whalen, M; Lampis, R; Mulargia, A; Loddo, M; Eaves, I; Mastio, G; Todd, J A; Cucca, F

Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: demography, chromosome recombination frequency and selection. Journal Article

Human molecular genetics, 9 (20), pp. 2947–57, 2000, ISSN: 0964-6906.

Abstract | Links | BibTeX

Lampis, R; Morelli, L; De Virgiliis, S; Congia, M; Cucca, F

The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations. Journal Article

Tissue Antigens, 56 (6), pp. 515–521, 2000, ISSN: 0001-2815 0001-2815.

Abstract | BibTeX

Lampis, R; Morelli, L; Congia, M; Macis, M D; Mulargia, A; Loddo, M; {De Virgiliis}, S; Marrosu, M G; Todd, J A; Cucca, F

The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases. Journal Article

Human molecular genetics, 9 (20), pp. 2959–65, 2000, ISSN: 0964-6906.

Abstract | Links | BibTeX

Lampis, R; Morelli, L; Congia, M; Macis, M D; Mulargia, A; Loddo, M; De Virgiliis, S; Marrosu, M G; Todd, J A; Cucca, F

The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases. Journal Article

Hum Mol Genet, 9 (20), pp. 2959–2965, 2000, ISSN: 0964-6906 0964-6906.

Abstract | BibTeX

Marrosu, M G; Schirru, L; Fadda, E; Mancosu, C; Lai, M; Cocco, E; Cucca, F

ICAM-1 gene is not associated with multiple sclerosis in sardinian patients. Journal Article

J Neurol, 247 (9), pp. 677–680, 2000, ISSN: 0340-5354 0340-5354.

Abstract | BibTeX

Todd, John A; Eaves, Iain A; Merriman, Tony R; Barber, Rachael A; Nutland, Sarah ; Tuomilehto-Wolf, Eva ; Tuomilehto, Jaakko ; Cucca, Francesco

The genetically isolated populations of Finland and sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes. Journal Article

Nature Genetics, 25 (3), pp. 320–323, 2000, ISSN: 10614036.

Abstract | Links | BibTeX

Eaves, I A; Merriman, T R; Barber, R A; Nutland, S; Tuomilehto-Wolf, E; Tuomilehto, J; Cucca, F; Todd, J A

The genetically isolated populations of Finland and sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes. Journal Article

Nat Genet, 25 (3), pp. 320–323, 2000, ISSN: 1061-4036 1061-4036.

Abstract | Links | BibTeX

Muntoni, S; Cocco, P; Aru, G; Cucca, F

Nutritional factors and worldwide incidence of childhood type 1 diabetes. Journal Article

Am J Clin Nutr, 71 (6), pp. 1525–1529, 2000, ISSN: 0002-9165 0002-9165.

Abstract | BibTeX

Koeleman, B P; Herr, M H; Zavattari, P; Dudbridge, F; March, R; Campbell, D; Barnett, A H; Bain, S C; Mulargia, A P; Loddo, M; Amos, W; Cucca, F; Todd, J A

Conditional ETDT analysis of the human leukocyte antigen region in type 1 diabetes. Journal Article

Ann Hum Genet, 64 (Pt 3), pp. 215–221, 2000, ISSN: 0003-4800 0003-4800.

Abstract | Links | BibTeX

Herr, M; Dudbridge, F; Zavattari, P; Cucca, F; Guja, C; March, R; Campbell, R D; Barnett, A H; Bain, S C; Todd, J A; Koeleman, B P

Evaluation of fine mapping strategies for a multifactorial disease locus: systematic linkage and association analysis of IDDM1 in the HLA region on chromosome 6p21. Journal Article

Hum Mol Genet, 9 (9), pp. 1291–1301, 2000, ISSN: 0964-6906 0964-6906.

Abstract | BibTeX

Zavattari, P; Esposito, L; Nutland, S; Todd, J A; Cucca, F

Transmission-ratio distortion at Xp11.4-p21.1 in type 1 diabetes. Journal Article

Am J Hum Genet, 66 (1), pp. 330–332, 2000, ISSN: 0002-9297 0002-9297.

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1999

D'Alfonso, S; Nistico, L; Zavattari, P; Marrosu, M G; Murru, R; Lai, M; Massacesi, L; Ballerini, C; Gestri, D; Salvetti, M; Ristori, G; Bomprezzi, R; Trojano, M; Liguori, M; Gambi, D; Quattrone, A; Fruci, D; Cucca, F; Richiardi, P M; Tosi, R

Linkage analysis of multiple sclerosis with candidate region markers in Sardinian and Continental Italian families. Journal Article

Eur J Hum Genet, 7 (3), pp. 377–385, 1999, ISSN: 1018-4813 1018-4813.

Abstract | Links | BibTeX

1998

Esposito, L; Hill, N J; Pritchard, L E; Cucca, F; Muxworthy, C; Merriman, M E; Wilson, A; Julier, C; Delepine, M; Tuomilehto, J; Tuomilehto-Wolf, E; Ionesco-Tirgoviste, C; Nistico', L; Buzzetti, R; Pozzilli, P; Ferrari, M; Bosi, E; Pociot, F; Nerup, J; Bain, S C; Todd, J A

Genetic analysis of chromosome 2 in type 1 diabetes: analysis of putative loci IDDM7, IDDM12, and IDDM13 and candidate genes NRAMP1 and IA-2 and the interleukin-1 gene cluster. IMDIAB Group. Journal Article

Diabetes, 47 (11), pp. 1797–1799, 1998, ISSN: 0012-1797 0012-1797.

BibTeX

Cucca, F; Esposito, L; Goy, J V; Merriman, M E; Wilson, A J; Reed, P W; Bain, S C; Todd, J A

Investigation of linkage of chromosome 8 to type 1 diabetes: multipoint analysis and exclusion mapping of human chromosome 8 in 593 affected sib-pair families from the U.K. and U.S. Journal Article

Diabetes, 47 (9), pp. 1525–7, 1998, ISSN: 0012-1797.

Links | BibTeX

Marrosu, M G; Murru, M R; Costa, G; Murru, R; Muntoni, F; Cucca, F

DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population. Journal Article

Human molecular genetics, 7 (8), pp. 1235–7, 1998, ISSN: 0964-6906.

Abstract | Links | BibTeX

Nakagawa, Y; Kawaguchi, Y; Twells, R C; Muxworthy, C; Hunter, K M; Wilson, A; Merriman, M E; Cox, R D; Merriman, T; Cucca, F; McKinney, P A; Shield, J P; Tuomilehto, J; Tuomilehto-Wolf, E; Ionesco-Tirgoviste, C; Nistico, L; Buzzetti, R; Pozzilli, P; Joner, G; Thorsby, E; Undlien, D E; Pociot, F; Nerup, J; Ronningen, K S; Bain, S C; Todd, J A

Fine mapping of the diabetes-susceptibility locus, IDDM4, on chromosome 11q13. Journal Article

Am J Hum Genet, 63 (2), pp. 547–556, 1998, ISSN: 0002-9297 0002-9297.

Abstract | BibTeX

Cucca, F; Goy, J V; Kawaguchi, Y; Esposito, L; Merriman, M E; Wilson, A J; Cordell, H J; Bain, S C; Todd, J A

A male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC HLA-DR3-positive patients. Journal Article

Nature genetics, 19 (3), pp. 301–2, 1998, ISSN: 1061-4036.

Abstract | Links | BibTeX

Mein, C A; Esposito, L; Dunn, M G; Johnson, G C; Timms, A E; Goy, J V; Smith, A N; Sebag-Montefiore, L; Merriman, M E; Wilson, A J; Pritchard, L E; Cucca, F; Barnett, A H; Bain, S C; Todd, J A

A search for type 1 diabetes susceptibility genes in families from the United Kingdom. Journal Article

Nat Genet, 19 (3), pp. 297–300, 1998, ISSN: 1061-4036 1061-4036.

Abstract | Links | BibTeX

Merriman, T R; Eaves, I A; Twells, R C; Merriman, M E; Danoy, P A; Muxworthy, C E; Hunter, K M; Cox, R D; Cucca, F; McKinney, P A; Shield, J P; Baum, J D; Tuomilehto, J; Tuomilehto-Wolf, E; Ionesco-Tirgoviste, C; Joner, G; Thorsby, E; Undlien, D E; Pociot, F; Nerup, J; Ronningen, K S; Bain, S C; Todd, J A

Transmission of haplotypes of microsatellite markers rather than single marker alleles in the mapping of a putative type 1 diabetes susceptibility gene (IDDM6). Journal Article

Hum Mol Genet, 7 (3), pp. 517–524, 1998, ISSN: 0964-6906 0964-6906.

Abstract | BibTeX

Cucca, F; Goy, J V; Kawaguchi, Y; Esposito, L; Merriman, M E; Wilson, A J; Cordell, H J; Bain, S C; Todd, J A

A male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC Journal Article

Nat Genet, 19 (3), pp. 301–302, 1998, ISSN: 1061-4036 1061-4036.

Abstract | Links | BibTeX

Cucca, F; Zhu, Z B; Khanna, A; Cossu, F; Congia, M; Badiali, M; Lampis, R; Frau, F; De Virgiliis, S; Cao, A; Arnone, M; Piras, P; Campbell, R D; Cooper, M D; Volanakis, J E; Powis, S H

Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III region. Journal Article

Clin Exp Immunol, 111 (1), pp. 76–80, 1998, ISSN: 0009-9104 0009-9104.

Abstract