Header links
Intranet
Donate now
image/svg+xml Map
Contact us

Publications

Publications searcher

The science produced by our scientists is very important. In 2022, 1,629 papers were published in scientific journals with a global impact factor of over 15,000 points.

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

PMID: 26029709
Journal: MOLECULAR GENETICS AND GENOMICS
Year: 2015
Reference: Mol Genet Genomic Med. 2015 May;3(3):221-32. doi: 10.1002/mgg3.136. Epub 2015 Mar 6.
Impact factor: 2.728
Publication type: Paper in international publication
Authors: Joshi, Ricky, Shvartsman, Maya, Moran, Erica, Lois, Sergi, , Barque, Anna, de la Cruz, Xavier, Bruguera, Miquel, Vagace, Jose Manuel, Gervasini, Guillermo et al.
DOI: 10.1002/mgg3.136

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

PMID: 26029709
Journal: MOL GENET GENOMICS
Year: 2015
Reference: Mol Genet Genomic Med. 2015 May;3(3):221-32. doi: 10.1002/mgg3.136. Epub 2015 Mar 6.
Impact factor:
Publication type: Paper in international publication
Authors: ; Barque, Anna; Bruguera, Miquel; de la Cruz, Xavier; Gervasini, Guillermo; Joshi, Ricky; Lois, Sergi; Moran, Erica; Sanchez, Mayka; Sanz, Cristina et al.
DOI: 10.1002/mgg3.136

Functional protein aggregates: just the tip of the iceberg.

PMID: 26370294
Journal: Nanomedicine
Year: 2015
Reference: Nanomedicine (Lond). 2015;10(18):2881-91. doi: 10.2217/nnm.15.125. Epub 2015 Sep 15.
Impact factor: 5.413
Publication type: Review in international publication
Authors: Villaverde, Antonio, Corchero, Jose Luis, Seras-Franzoso, Joaquin, Garcia-Fruitos, Elena et al.
DOI: 10.2217/nnm.15.125

Functional protein aggregates: just the tip of the iceberg.

PMID: 26370294
Journal: NANOMEDICINE-UK
Year: 2015
Reference: Nanomedicine (Lond). 2015;10(18):2881-91. doi: 10.2217/nnm.15.125. Epub 2015 Sep 15.
Impact factor:
Publication type: Review in international publication
Authors: Corchero, Jose Luis; Garcia-Fruitos, Elena; Seras-Franzoso, Joaquin; Villaverde, Antonio et al.
DOI: 10.2217/nnm.15.125

Fungal and viral infections after allogeneic hematopoietic transplantation from unrelated donors in adults: improving outcomes over time.

PMID: 25347007
Journal: BONE MARROW TRANSPLANTATION
Year: 2015
Reference: Bone Marrow Transplant. 2015 Feb;50(2):274-81. doi: 10.1038/bmt.2014.229. Epub 2014 Oct 27.
Impact factor: 3.57
Publication type: Paper in international publication
Authors: Duarte, R F, Serrano, D, Carretero, F, Vazquez, L, Sanchez-Ortega, I, Valcarcel, D, Cabrera, J R, Parody, R, Martino, R, de la Camara, R et al.
DOI: 10.1038/bmt.2014.229

Fungal and viral infections after allogeneic hematopoietic transplantation from unrelated donors in adults: improving outcomes over time.

PMID: 25347007
Journal: BONE MARROW TRANSPL
Year: 2015
Reference: Bone Marrow Transplant. 2015 Feb;50(2):274-81. doi: 10.1038/bmt.2014.229. Epub 2014 Oct 27.
Impact factor:
Publication type: Paper in international publication
Authors: Barba, P; Caballero, D; Cabero, M A; Cabrera, J R; Carretero, F; Castilla-Llorente, C; de la Camara, R; Duarte, R F; Espigado, I; Esquirol, A et al.
DOI: 10.1038/bmt.2014.229

Fusion events lead to truncation of FOS in epithelioid hemangioma of bone.

PMID: 26173738
Journal: GENES & GENETIC SYSTEMS
Year: 2015
Reference: Genes Chromosomes Cancer. 2015 Sep;54(9):565-74. doi: 10.1002/gcc.22269. Epub 2015 Jul 14.
Impact factor: 0.93
Publication type: Paper in international publication
Authors: van IJzendoorn, David G P, de Jong, Danielle, Romagosa, Cleofe, Picci, Piero, Benassi, Maria Serena, Gambarotti, Marco, Daugaard, Soeren, van de Sande, Michiel, Szuhai, Karoly, Bovee, Judith V M G et al.
DOI: 10.1002/gcc.22269

Fusion events lead to truncation of FOS in epithelioid hemangioma of bone.

PMID: 26173738
Journal: GENES GENET SYST
Year: 2015
Reference: Genes Chromosomes Cancer. 2015 Sep;54(9):565-74. doi: 10.1002/gcc.22269. Epub 2015 Jul 14.
Impact factor:
Publication type: Paper in international publication
Authors: Benassi, Maria Serena; Bovee, Judith V M G; Daugaard, Soeren; de Jong, Danielle; Gambarotti, Marco; Picci, Piero; Romagosa, Cleofe; Szuhai, Karoly; van de Sande, Michiel; van IJzendoorn, David G P et al.
DOI: 10.1002/gcc.22269

Gastrointestinal problems in 15q duplication syndrome.

PMID: 25573720
Journal: European Journal of Medical Genetics
Year: 2015
Reference: Eur J Med Genet. 2015 Mar;58(3):191-3. doi: 10.1016/j.ejmg.2014.12.012. Epub 2015 Jan 5.
Impact factor: 1.466
Publication type: Paper in international publication
Authors: Shaaya, Elias A, Pollack, Sarah F, Boronat, Susana, Davis-Cooper, Shelby, Zella, Garrett C, Thibert, Ronald L et al.
DOI: 10.1016/j.ejmg.2014.12.012

Gastrointestinal problems in 15q duplication syndrome.

PMID: 25573720
Journal: EUR J MED GENET
Year: 2015
Reference: Eur J Med Genet. 2015 Mar;58(3):191-3. doi: 10.1016/j.ejmg.2014.12.012. Epub 2015 Jan 5.
Impact factor:
Publication type: Paper in international publication
Authors: Boronat, Susana; Davis-Cooper, Shelby; Pollack, Sarah F; Shaaya, Elias A; Thibert, Ronald L; Zella, Garrett C et al.
DOI: 10.1016/j.ejmg.2014.12.012

Gene expression-based classifications of fibroadenomas and phyllodes tumours of the breast.

PMID: 25687451
Journal: Molecular Oncology
Year: 2015
Reference: Mol Oncol. 2015 Jun;9(6):1081-90. doi: 10.1016/j.molonc.2015.01.003. Epub 2015 Jan 31.
Impact factor: 5.331
Publication type: Paper in international publication
Authors: Vidal, Maria, Peg, Vicente, Galvan, Patricia, Tres, Alejandro, Cortes, Javier, Ramon Y Cajal, Santiago, Rubio, Isabel T, Prat, Aleix et al.
DOI: 10.1016/j.molonc.2015.01.003

Gene expression-based classifications of fibroadenomas and phyllodes tumours of the breast.

PMID: 25687451
Journal: MOL ONCOL
Year: 2015
Reference: Mol Oncol. 2015 Jun;9(6):1081-90. doi: 10.1016/j.molonc.2015.01.003. Epub 2015 Jan 31.
Impact factor:
Publication type: Paper in international publication
Authors: Cortes, Javier; Galvan, Patricia; Peg, Vicente; Prat, Aleix; Ramon Y Cajal, Santiago; Rubio, Isabel T; Tres, Alejandro; Vidal, Maria et al.
DOI: 10.1016/j.molonc.2015.01.003

Genetic association study of coronary collateral circulation in patients with coronary artery disease using 22 single nucleotide polymorphisms corresponding to 10 genes involved in postischemic neovascularization.

PMID: 25959001
Journal: BMC Cardiovascular Disorders
Year: 2015
Reference: BMC Cardiovasc Disord. 2015 May 12;15:37. doi: 10.1186/s12872-015-0027-z.
Impact factor: 1.878
Publication type: Paper in international publication
Authors: del Blanco, Bruno Garcia, Garcia-Dorado, David, Reig, Josep, Cordero, Alex, de Anta, Josep Maria, Otaegui, Imanol, Abdul-Jawad, Omar, Petit, Marius, Pelegrina, Eva Martin, Duran, Joan et al.
DOI: 10.1186/s12872-015-0027-z

Genetic association study of coronary collateral circulation in patients with coronary artery disease using 22 single nucleotide polymorphisms corresponding to 10 genes involved in postischemic neovascularization.

PMID: 25959001
Journal: BMC CARDIOVASC DISOR
Year: 2015
Reference: BMC Cardiovasc Disord. 2015 May 12;15:37. doi: 10.1186/s12872-015-0027-z.
Impact factor:
Publication type: Paper in international publication
Authors: Abdul-Jawad, Omar; Carballo, Julio; Cordero, Alex; de Anta, Josep Maria; del Blanco, Bruno Garcia; Duran, Joan; Garcia-Dorado, David; Gotzens, Victor; Mola, Marina; Olavarria, Pilar Sanchez et al.
DOI: 10.1186/s12872-015-0027-z

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.

PMID: 25703627
Journal: HUMAN MUTATION
Year: 2015
Reference: Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6.
Impact factor: 5.144
Publication type: Review in national publication
Authors: Syx, Delfien, Van Damme, Tim, Symoens, Sofie, Maiburg, Merel C, van de Laar, Ingrid, Morton, Jenny, Suri, Mohnish, Del Campo, Miguel, Hausser, Ingrid, Hermanns-Le, Trinh et al.
DOI: 10.1002/humu.22774

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.

PMID: 25703627
Journal: HUM MUTAT
Year: 2015
Reference: Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6.
Impact factor:
Publication type: Review in national publication
Authors: De Paepe, Anne; Del Campo, Miguel; Hausser, Ingrid; Hermanns-Le, Trinh; Maiburg, Merel C; Malfait, Fransiska; Morton, Jenny; Suri, Mohnish; Symoens, Sofie; Syx, Delfien et al.
DOI: 10.1002/humu.22774

Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci.

PMID: 24468824
Journal: MOLECULAR PSYCHIATRY
Year: 2015
Reference: Mol Psychiatry. 2015 Feb;20(2):207-14. doi: 10.1038/mp.2013.195. Epub 2014 Jan 28.
Impact factor: 14.496
Publication type: Paper in international publication
Authors: Wang, Y, Thompson, W K, Schork, A J, Mattingsdal, M, Zuber, V, Bettella, F, Ripke, S, Kelsoe, J R, Kendler, K S, O'Donovan, M C et al.
DOI: 10.1038/mp.2013.195

Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci.

PMID: 24468824
Journal: MOL PSYCHIATR
Year: 2015
Reference: Mol Psychiatry. 2015 Feb;20(2):207-14. doi: 10.1038/mp.2013.195. Epub 2014 Jan 28.
Impact factor:
Publication type: Paper in international publication
Authors: Andreassen, O A; Barcellos, Lisa; Bettella, F; Booth, David; Comabella, Manuel; Compston, Alastair; D'Alfonso, Sandra; Dale, A M; De Jager, Philip; Desikan, R S et al.
DOI: 10.1038/mp.2013.195

Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.

PMID: 25616667
Journal: BRAIN
Year: 2015
Reference: Brain. 2015 Mar;138(Pt 3):632-43. doi: 10.1093/brain/awu405. Epub 2015 Jan 22.
Impact factor: 9.196
Publication type: Paper in international publication
Authors: Goris, An, Pauwels, Ine, Gustavsen, Marte W, Hilven, Kelly, Sellebjerg, Finn, Jensen, Poul Erik H, Comabella, Manuel, Montalban, Xavier, Perez-Boza, Jennifer, Malhotra, Sunny et al.
DOI: 10.1093/brain/awu405

Genetic variants are major determinants of CSF antibody levels in multiple sclerosis.

PMID: 25616667
Journal: BRAIN
Year: 2015
Reference: Brain. 2015 Mar;138(Pt 3):632-43. doi: 10.1093/brain/awu405. Epub 2015 Jan 22.
Impact factor:
Publication type: Paper in international publication
Authors: Aarseth, Jan; Alfredsson, Lars; Andreassen, Bettina Kullle; Bang Oturai, Annette; Barizzone, Nadia; Bedri, Sahl Khalid; Berg-Hansen, Pal; Berthele, Achim; Biberacher, Viola; Bos, Steffan D et al.
DOI: 10.1093/brain/awu405

Genetics of Graves' Disease: Special Focus on the Role of TSHR Gene.

PMID: 26361261
Journal: HORMONE AND METABOLIC RESEARCH
Year: 2015
Reference: Horm Metab Res. 2015 Sep;47(10):753-66. doi: 10.1055/s-0035-1559646. Epub 2015 Sep 11.
Impact factor: 2.121
Publication type: Paper in international publication
Authors: Gimenez-Barcons, M, Marin-Sanchez, A, Colobran, R, Pujol-Borrell, R et al.
DOI: 10.1055/s-0035-1559646

Genetics of Graves' Disease: Special Focus on the Role of TSHR Gene.

PMID: 26361261
Journal: HORM METAB RES
Year: 2015
Reference: Horm Metab Res. 2015 Sep;47(10):753-66. doi: 10.1055/s-0035-1559646. Epub 2015 Sep 11.
Impact factor:
Publication type: Paper in international publication
Authors: Colobran, R; Gimenez-Barcons, M; Marin-Sanchez, A; Pujol-Borrell, R et al.
DOI: 10.1055/s-0035-1559646

Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes.

PMID: 26291516
Journal: GENES AND IMMUNITY
Year: 2015
Reference: Genes Immun. 2015 Oct;16(7):470-80. doi: 10.1038/gene.2015.28. Epub 2015 Aug 20.
Impact factor: 2.913
Publication type: Paper in international publication
Authors: Miller, F W, Kiely, Patrick, Plotz, Paul H, Gourley, Mark, Varsani, Hemlata, Hilton-Jones, David, Denton, Christopher, Amos, C I, Gregersen, P K, Chen, W et al.
DOI: 10.1038/gene.2015.28

Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes.

PMID: 26291516
Journal: GENES IMMUN
Year: 2015
Reference: Genes Immun. 2015 Oct;16(7):470-80. doi: 10.1038/gene.2015.28. Epub 2015 Aug 20.
Impact factor:
Publication type: Paper in international publication
Authors: Amos, C I; Byun, J; Chen, W; Chinoy, H; Cooper, R G; Danko, K; Denton, Christopher; Gourley, Mark; Gregersen, P K; Hilton-Jones, David et al.
DOI: 10.1038/gene.2015.28