Genòmica de Malalties Complexes

Esteban J., de la Morena-Barrio M.E., Salloum-Asfar S., Padilla J., Minano A., Roldan V., Soria J.M., Vidal F., Corral J., Vicente V. (2017) High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study. HAEMOPHILIA, 23 (6), e488-e496. IF: 2,768

Maqueda M., Roca E., Brotons D., Soria J.M., Perera A. (2017) Affected pathways and transcriptional regulators in gene expression response to an ultra-marathon trail: Global and independent activity approaches. PLOS ONE, 12 (10), -. IF: 2,766

Martin-Fernandez L., Gavidia-Bovadilla G., Corrales I., Brunel H., Ramirez L., Lopez S., Souto J.C., Vidal F., Soria J.M. (2017) Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis. PLOS ONE, 12 (4), -. IF: 2,766

Sennblad B., Basu S., Mazur J., Suchon P., Martinez-Perez A., Vlieg A.H., Truong V., Li Y., Gadin J.R., Tang W., Grossman V., de Haan H.G., Handin N., Silveira A., Souto J.C., Franco-Cereceda A., Morange P.-E., Gagnon F., Soria J.M., Eriksson P., Hamsten A., Maegdefessel L., Rosendaal F.R., Wild P., Folsom A.R., Tregouet D.-A., Sabater-Lleal M. (2017) Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels. HUM MOL GENET, 26 (3), 637-649. IF: 4,902

Vázquez-Santiago M, Vilalta N, Ziyatdinov A, Cuevas B, Macho R, Pujol-Moix N, Carrasco M, Mateo J, Fontcuberta J, Soria JM, Souto JC. Platelet count and plateletcrit are associated with an increased risk of venous thrombosis in females. Results from the RETROVE study. Thromb Res. 2017 Jul 23;157:162-164. IF: 2.779

Athanasiadis G., Arranz L., Ziyatdinov A., Brunel H., Camacho M., Malouf J., Sosa N.H.D., Vila L., Casademont J., Soria J.M. (2016) Exploring correlation between bone metabolism markers and densitometric traits in extended families from Spain. BONE, 90 (), 1-6. IF: 4,1400

Brunel H., Massanet R., Martinez-Perez A., Ziyatdinov A., Martin-Fernandez L., Souto J.C., Perera A., Soria J.M. (2016) The central role of KNG1 gene as a genetic determinant of coagulation pathway-related traits: Exploring metaphenotypes. PLOS ONE, 11 (12), -. IF: 2,8060

Bruzelius M., Iglesias M.J., Hong M.-G., Sanchez-Rivera L., Gyorgy B., Souto J.C., Franberg M., Fredolini C., Strawbridge R.J., Holmstrom M., Hamsten A., Uhlen M., Silveira A., Soria J.M., Smadja D.M., Butler L.M., Schwenk J.M., Morange P.-E., Tregouet D.-A., Odeberg J. (2016) PDGFB, a new candidate plasma biomarker for venous thromboembolism: Results from the VEREMA affinity proteomics study. BLOOD, 128 (23), e59-e66. IF: 13,1640

Engert A., Balduini C., Brand A., Coiffier B., Cordonnier C., Dohner H., De Wit T.D., Eichinger S., Fibbe W., Green T., De Haas F., Iolascon A., Jaffredo T., Rodeghiero F., Sall Es G., Schuringa J.J., Andre M., Andre-Schmutz I., Bacigalupo A., Bochud P.-Y., Den Boer M., Bonini C., Camaschella C., Cant A., Cappellini M.D., Cazzola M., Celso C.L., Dimopoulos M., Douay L., Dzierzak E., Einsele H., Ferreri A., De Franceschi L., Gaulard P., Gottgens B., Greinacher A., Gresele P., Gribben J., De Haan G., Hansen J.-B., Hochhaus A., Kadir R., Kaveri S., Kouskoff V., Kuhne T., Kyrle P., Ljungman P., Maschmeyer G., Mendez-Ferrer S., Milsom M., Mummery C., Ossenkoppele G., Pecci A., Peyvandi F., Philipsen S., Reitsma P., Ribera J.M., Risitano A., Rivella S., Ruf W., Schroeder T., Scully M., Socie G., Staal F., Stanworth S., Stauder R., Stilgenbauer S., Tamary H., Theilgaard-Monch K., Thein S.L., Tilly H., Trneny M., Vainchenker W., Vannucchi A.M., Viscoli C., Vrielink H., Zaaijer H., Zanella A., Zolla L., Zwaginga J.J., Martinez P.A., Van Den Akker E., Allard S., Anagnou N., Andolfo I., Andrau J.-C., Angelucci E., Anstee D., Aurer I., Avet-Loiseau H., Aydinok Y., Bakchoul T., Balduini A., Barcellini W., Baruch D., Baruchel A., Bayry J., Bento C., Van Den Berg A., Bernardi R., Bianchi P., Bigas A., Biondi A., Bohonek M., Bonnet D., Borchmann P., Borregaard N., Braekkan S., Van Den Brink M., Brodin E., Bullinger L., Buske C., Butzeck B., Cammenga J., Campo E., Carbone A., Cervantes F., Cesaro S., Charbord P., Claas F., Cohen H., Conard J., Coppo P., Vives Corron J.-L., Da Costa L., Davi F., Delwel R., Dianzani I., Domanovic D., Donnelly P., Drnovsek T.D., Dreyling M., Du M.-Q., Dufour C., Durand C., Efremov D., Eleftheriou A., Elion J., Emonts M., Engelhardt M., Ezine S., Falkenburg F., Favier R., Federico M., Fenaux P., Fitzgibbon J., Flygare J., Foa R., Forrester L., Galacteros F., Garagiola I., Gardiner C., Garraud O., Van Geet C., Geiger H., Geissler J., Germing U., Ghevaert C., Girelli D., Godeau B., Gokbuget N., Goldschmidt H., Goodeve A., Graf T., Graziadei G., Griesshammer M., Gruel Y., Guilhot F., Von Gunten S., Gyssens I., Halter J., Harrison C., Harteveld C., Hellstrom-Lindberg E., Hermine O., Higgs D., Hillmen P., Hirsch H., Hoskin P., Huls G., Inati A., Johnson P., Kattamis A., Kiefel V., Kleanthous M., Klump H., Krause D., Hovinga J.K., Lacaud G., Lacroix-Desmazes S., Landman-Parker J., Legouill S., Lenz G., Von Lilienfeld-Toal M., Von Lindern M., Lopez-Guillermo A., Lopriore E., Lozano M., Macintyre E., Makris M., Mannhalter C., Martens J., Mathas S., Matzdorff A., Medvinsky A., Menendez P., Migliaccio A.R., Miharada K., Mikulska M., Minard V., Montalban C., De Montalembert M., Montserrat E., Morange P.-E., Mountford J., Muckenthaler M., Muller-Tidow C., Mumford A., Nadel B., Navarro J.-T., El Nemer W., Noizat-Pirenne F., O'Mahony B., Oldenburg J., Olsson M., Oostendorp R., Palumbo A., Passamonti F., Patient R., De Latour R.P., Pflumio F., Pierelli L., Piga A., Pollard D., Raaijmakers M., Radford J., Rambach R., Koneti Rao A., Raslova H., Rebulla P., Rees D., Ribrag V., Rijneveld A., Rinalducci S., Robak T., Roberts I., Rodrigues C., Rosendaal F., Rosenwald A., Rule S., Russo R., Saglio G., Sanchez M., Scharf R.E., Schlenke P., Semple J., Sierra J., So-Osman C., Soria J.M., Stamatopoulos K., Stegmayr B., Stunnenberg H., Swinkels D., Barata J.P.T., Taghon T., Taher A., Terpos E., Thachil J., Tissot J.D., Touw I., Toye A., Trappe R., Traverse-Glehen A., Unal S., Vaulont S., Viprakasit V., Vitolo U., Van Wijk R., Wojtowicz A., Zeerleder S., Zieger B. (2016) The european hematology association roadmap for european hematology research: A consensus document. HAEMATOLOGICA, 101 (2), 115-208. IF: 7,7020

Hernandez-de Sosa N., Athanasiadis G., Malouf J., Laiz A., Marin A., Herrera S., Farrerons J., Soria J.M., Casademont J. (2016) Genetic contribution of femoral neck bone geometry to the risk of developing osteoporosis: A family-based study. PLOS ONE, 11 (5), -. IF: 2,8060

Hinds D.A., Buil A., Ziemek D., Martinez-Perez Angel, Malik R., Folkersen L., Germain M., Malarstig Anders, Brown A., Soria J.M., Dichgans M., Bing N., Franco-Cereceda Anders, Souto J.C., Dermitzakis E.T., Hamsten A., Worrall B.B., Tung J.Y., Sabater-Lleal M. (2016) Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis. HUM MOL GENET, 25 (9), 1867-1874. IF: 5,3400

Martin-Fernandez L., Ziyatdinov A., Carrasco M., Millon J.A., Martinez-Perez A., Vilalta N., Brunel H., Font M., Hamsten A., Souto J.C., Soria J.M. (2016) Genetic determinants of thrombin generation and their relation to venous thrombosis: Results from the GAIT-2 project. PLOS ONE, 11 (1), -. IF: 2,8060

Martin-Fernandez L., Marco P., Corrales I., Perez R., Ramirez L., Lopez S., Vidal F., Soria J.M. (2016) The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease. SCI REP-UK, 6 (), -. IF: 4,2590

Pena G.G., Martinez-Perez A., Dutra M.S., Gazzinelli A., Correa-Oliveira R., Soria J.M., Velasquez-Melendez G. (2016) Genetic determinants of cardiometabolic risk factors in rural families in Brazil. AM J HUM BIOL, 28 (5), 619-626. IF: 1,7800

Remacha A.F., Vilalta N., Sarda M.P., Millon J., Pujol-Moix N., Ziyatdinov A., Fontcuberta J., Nomdedeu J., Soria J.M., Souto J.C. (2016) Erytrocyte-related phenotypes and genetic susceptibility to thrombosis. BLOOD CELL MOL DIS, 59 (), 44-48. IF: 1,8820

Vazquez-Santiago M., Ziyatdinov A., Pujol-Moix N., Brunel H., Morera A., Soria J.M., Souto J.C. (2016) Age and gender effects on 15 platelet phenotypes in a Spanish population. COMPUT BIOL MED, 69 (), 226-233. IF: 1,8360

Ziyatdinov A., Brunel H., Martinez-Perez A., Buil A., Perera A., Soria J.M. (2016) Solarius: An R interface to SOLAR for variance component analysis in pedigrees. BIOINFORMATICS, 32 (12), 1901-1902. IF: 7,3070