Publications searcher

The science produced by our scientists is very important. In 2024, 1,501 papers were published in scientific journals with an average impact factor of over 7.13 points.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

PMID: 31898846
Journal: HUMAN MUTATION
Year: 2020
Reference: Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14.
Impact factor:
Publication type: Paper in international publication
Authors: Adang, Laura A; Ayuk, Loveline A; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E; Blumkin, Lubov; Boespflug-Tanguy, Odile et al.
DOI: 10.1002/humu.23975

Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.

PMID: 31184212
Journal: European Journal of Preventive Cardiology
Year: 2020
Reference: Eur J Prev Cardiol. 2020 Sep;27(13):1423-1435. doi: 10.1177/2047487319854552. Epub 2019 Jun 11.
Impact factor: 5.864
Publication type: Paper in international publication
Authors: Bondue, Antoine, Budts, Werner, Evangelista, Arturo, Gallego, Pastora, Jondeau, Guillaume, Loeys, Bart, Pena, Maria L, Teixido-Tura, Gisela, van de Laar, Ingrid, Verstraeten, Aline et al.
DOI: 10.1177/2047487319854552

Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.

PMID: 31184212
Journal: European Journal of Preventive Cardiology
Year: 2020
Reference: Eur J Prev Cardiol. 2020 Sep;27(13):1423-1435. doi: 10.1177/2047487319854552. Epub 2019 Jun 11.
Impact factor:
Publication type: Paper in international publication
Authors: Bondue, Antoine; Budts, Werner; De Backer, Julie; Evangelista, Arturo; Gallego, Pastora; Hesselink, Jolien Roos; Jondeau, Guillaume; Loeys, Bart; Pena, Maria L; Teixido-Tura, Gisela et al.
DOI: 10.1177/2047487319854552

Genetic counsellors in a multidisciplinary model of clinical genetics and hereditary cancer.

PMID: 32173072
Journal: MEDICINA CLINICA
Year: 2020
Reference: Med Clin (Barc). 2020 Jul 24;155(2):77-81. doi: 10.1016/j.medcli.2020.01.001. Epub 2020 Mar 13.
Impact factor: 1.635
Publication type: Paper in national publication
Authors: Lopez-Fernandez, Adria, Serra-Juhe, Clara, Balmana, Judith, Tizzano, Eduardo F et al.
DOI: 10.1016/j.medcli.2020.01.001

Genetic counsellors in a multidisciplinary model of clinical genetics and hereditary cancer.

PMID: 32173072
Journal: MEDICINA CLINICA
Year: 2020
Reference: Med Clin (Barc). 2020 Jul 24;155(2):77-81. doi: 10.1016/j.medcli.2020.01.001. Epub 2020 Mar 13.
Impact factor:
Publication type: Paper in national publication
Authors: Balmana, Judith; Lopez-Fernandez, Adria; Serra-Juhe, Clara; Tizzano, Eduardo F et al.
DOI: 10.1016/j.medcli.2020.01.001

Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.

PMID: 32341526
Journal: NATURE GENETICS
Year: 2020
Reference: Nat Genet. 2020 May;52(5):482-493. doi: 10.1038/s41588-020-0610-9. Epub 2020 Apr 27.
Impact factor: 27.603
Publication type: Paper in international publication
Authors: Hakonarson, Hakon, Brueggeman, Leo, Breen, Gerome, Bulik, Cynthia M, Arenas, Ernest, Hjerling-Leffler, Jens, Sullivan, Patrick F, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya et al.
DOI: 10.1038/s41588-020-0610-9

Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.

PMID: 32341526
Journal: NATURE GENETICS
Year: 2020
Reference: Nat Genet. 2020 May;52(5):482-493. doi: 10.1038/s41588-020-0610-9. Epub 2020 Apr 27.
Impact factor:
Publication type: Paper in international publication
Authors: Adan, Roger; Agee, Michelle; Alfredsson, Lars; Alipanahi, Babak; Ando, Tetsuya; Andreassen, Ole; Anttila, Verneri; Arenas, Ernest; Artto, Ville; Auton, Adam et al.
DOI: 10.1038/s41588-020-0610-9

Genetic manipulation of LKB1 elicits lethal metastatic prostate cancer.

PMID: 32219437
Journal: JOURNAL OF EXPERIMENTAL MEDICINE
Year: 2020
Reference: J Exp Med. 2020 Jun 1;217(6). pii: 151590. doi: 10.1084/jem.20191787.
Impact factor:
Publication type: Paper in international publication
Authors: Arruabarrena-Aristorena, Amaia; Astobiza, Ianire; Barrio, Rosa; Camacho, Laura; Caro-Maldonado, Alfredo; Carracedo, Arkaitz; Carreira, Suzanne; Cortazar, Ana R; de Bono, Johann S; Fernandez-Ruiz, Sonia et al.
DOI: 10.1084/jem.20191787

Genetic polymorphisms of IL17A associated with Chagas disease: results from a meta-analysis in Latin American populations.

PMID: 32193469
Journal: Scientific Reports
Year: 2020
Reference: Sci Rep. 2020 Mar 19;10(1):5015. doi: 10.1038/s41598-020-61965-5.
Impact factor: 3.998
Publication type: Paper in international publication
Authors: Palma-Vega, Miriam, Casares-Marfil, Desire, Bosch-Nicolau, Pau, Lo Presti, Maria Silvina, Molina, Israel, Gonzalez, Clara Isabel, Martin, Javier, Acosta-Herrera, Marialbert, Paglini, Patricia A, Schijman, Alejandro G et al.
DOI: 10.1038/s41598-020-61965-5

Genetic polymorphisms of IL17A associated with Chagas disease: results from a meta-analysis in Latin American populations.

PMID: 32193469
Journal: Scientific Reports
Year: 2020
Reference: Sci Rep. 2020 Mar 19;10(1):5015. doi: 10.1038/s41598-020-61965-5.
Impact factor:
Publication type: Paper in international publication
Authors: Acosta-Herrera, Marialbert; Bosch-Nicolau, Pau; Calzada, Jose E; Casares-Marfil, Desire; Echeverria, Luis E; Fernandez-Mestre, Mercedes; Fresno, Manuel; Gonzalez, Clara Isabel; Lo Presti, Maria Silvina; Martin, Javier et al.
DOI: 10.1038/s41598-020-61965-5

Genetic Predictors of Long-term Response to Anti-TNF Agents in Pediatric Inflammatory Bowel Disease.

PMID: 32773718
Journal: JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
Year: 2020
Reference: J Pediatr Gastroenterol Nutr. 2020 Oct;71(4):508-515. doi: 10.1097/MPG.0000000000002840.
Impact factor: 2.937
Publication type: Paper in international publication
Authors: Alvarez-Vayo, Concepcion, Loverdos, Ines, Merino-Bohorquez, Vicente, Balboa-Vega, Maria J, Blanca-Garcia, Jose A, Fobelo, Maria J, Millan-Jimenez, Antonio, Garcia-Romero, Ruth, Sanchez, Cesar, Tolin, Mar et al.
DOI: 10.1097/MPG.0000000000002840

Genetic Predictors of Long-term Response to Anti-TNF Agents in Pediatric Inflammatory Bowel Disease.

PMID: 32773718
Journal: JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
Year: 2020
Reference: J Pediatr Gastroenterol Nutr. 2020 Oct;71(4):508-515. doi: 10.1097/MPG.0000000000002840.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez-Vayo, Concepcion; Aznal, Elena; Balboa-Vega, Maria J; Blanca-Garcia, Jose A; Bossacoma, Ferran; Clemente, Susana; de Caldas, Rafael Gonzalez; Eizaguirre, Francisco J; Fobelo, Maria J; Gallego-Fernandez, Carmen et al.
DOI: 10.1097/MPG.0000000000002840

Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification.

PMID: 32107283
Journal: MOLECULAR & CELLULAR PROTEOMICS
Year: 2020
Reference: Mol Cell Proteomics. 2020 Apr;19(4):690-700. doi: 10.1074/mcp.RA120.001954. Epub 2020 Feb 27.
Impact factor: 4.87
Publication type: Paper in international publication
Authors: Ghanem, Ismael, Gamez-Pozo, Angelo, Maurel, Joan, G-Pastrian, Laura, Mendiola, Marta, Pena, Cristina, Lopez-Vacas, Rocio, Prado-Vazquez, Guillermo, Lopez-Camacho, Elena, Zapater-Moros, Andrea et al.
DOI: 10.1074/mcp.RA120.001954

Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification.

PMID: 32107283
Journal: MOLECULAR & CELLULAR PROTEOMICS
Year: 2020
Reference: Mol Cell Proteomics. 2020 Apr;19(4):690-700. doi: 10.1074/mcp.RA120.001954. Epub 2020 Feb 27.
Impact factor:
Publication type: Paper in international publication
Authors: Capdevila, Jaume; Conill, Carles; Cuatrecasas, Miriam; Feliu, Jaime; Fortes, Claudia; Fresno Vara, Juan Angel; G-Pastrian, Laura; Gamez-Pozo, Angelo; Garcia-Alfonso, Pilar; Garcia-Carbonero, Rocio et al.
DOI: 10.1074/mcp.RA120.001954

Genetic Testing for the Clinician in Prostate Cancer.

PMID: 32885704
Journal: EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
Year: 2020
Reference: Expert Rev Mol Diagn. 2020 Sep;20(9):933-946. doi: 10.1080/14737159.2020.1816170. Epub 2020 Oct 15.
Impact factor: 4.096
Publication type: Paper in international publication
Authors: Lopez Campos, Fernando, Linares-Espinos, Estefania, Maldonado Pijoan, Xavier, Martinez-Ballesteros, Claudio, Martinez-Salamanca, Juan, Counago Lorenzo, Felipe, Morgan, Todd Mathew, Sancho Pardo, Gemma et al.
DOI: 10.1080/14737159.2020.1816170

Genetic Testing for the Clinician in Prostate Cancer.

PMID: 32885704
Journal: EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
Year: 2020
Reference: Expert Rev Mol Diagn. 2020 Sep;20(9):933-946. doi: 10.1080/14737159.2020.1816170. Epub 2020 Oct 15.
Impact factor:
Publication type: Paper in international publication
Authors: Counago Lorenzo, Felipe; Linares-Espinos, Estefania; Lopez Campos, Fernando; Maldonado Pijoan, Xavier; Martinez-Ballesteros, Claudio; Martinez-Salamanca, Juan; Morgan, Todd Mathew; Sancho Pardo, Gemma et al.
DOI: 10.1080/14737159.2020.1816170

Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage.

PMID: 32277781
Journal: ANNALS OF NEUROLOGY
Year: 2020
Reference: Ann Neurol. 2020 Jul;88(1):56-66. doi: 10.1002/ana.25740. Epub 2020 May 7.
Impact factor: 9.037
Publication type: Paper in international publication
Authors: Falcone, Guido J, Kirsch, Elayna, Acosta, Julian N, Noche, Rommell B, Leasure, Audrey, Marini, Sandro, Chung, Jaeyoon, Selim, Magdy, Meschia, James F, Brown, Devin L et al.
DOI: 10.1002/ana.25740

Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage.

PMID: 32277781
Journal: ANNALS OF NEUROLOGY
Year: 2020
Reference: Ann Neurol. 2020 Jul;88(1):56-66. doi: 10.1002/ana.25740. Epub 2020 May 7.
Impact factor:
Publication type: Paper in international publication
Authors: Acosta, Julian N; Anderson, Christopher D; Bennett, Derrick; Biffi, Alessandro; Brown, Devin L; Chen, Zhengming; Chung, Jaeyoon; Clarke, Robert; Falcone, Guido J; Fernandez-Cadenas, Israel et al.
DOI: 10.1002/ana.25740

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

PMID: 32424353
Journal: NATURE GENETICS
Year: 2020
Reference: Nat Genet. 2020 Jun;52(6):572-581. doi: 10.1038/s41588-020-0609-2. Epub 2020 May 18.
Impact factor: 27.603
Publication type: Paper in international publication
Authors: Aronson, Kristan J, Zhang, Haoyu, Ahearn, Thomas U, Lecarpentier, Julie, Barnes, Daniel, Beesley, Jonathan, Qi, Guanghao, Jiang, Xia, O'Mara, Tracy A, Zhao, Ni et al.
DOI: 10.1038/s41588-020-0609-2

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

PMID: 32424353
Journal: NATURE GENETICS
Year: 2020
Reference: Nat Genet. 2020 Jun;52(6):572-581. doi: 10.1038/s41588-020-0609-2. Epub 2020 May 18.
Impact factor:
Publication type: Paper in international publication
Authors: Ahearn, Thomas U; Aittomaki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Antoniou, Antonis C; Arndt, Volker; Aronson, Kristan J; Arun, Banu K; Auer, Paul L; Azzollini, Jacopo et al.
DOI: 10.1038/s41588-020-0609-2

Genome-Wide Association Study of Metamizole-Induced Agranulocytosis in European Populations.

PMID: 33138277
Journal: Genes
Year: 2020
Reference: Genes (Basel). 2020 Oct 29;11(11). pii: genes11111275. doi: 10.3390/genes11111275.
Impact factor: 3.759
Publication type: Paper in international publication
Authors: Cismaru, Anca Liliana, Rudin, Deborah, Ibanez, Luisa, Liakoni, Evangelia, Bonadies, Nicolas, Kreutz, Reinhold, Carvajal, Alfonso, Lucena, Maria Isabel, Martin, Javier, Sancho Ponce, Esther et al.
DOI: 10.3390/genes11111275

Genome-Wide Association Study of Metamizole-Induced Agranulocytosis in European Populations.

PMID: 33138277
Journal: Genes
Year: 2020
Reference: Genes (Basel). 2020 Oct 29;11(11). pii: genes11111275. doi: 10.3390/genes11111275.
Impact factor:
Publication type: Paper in international publication
Authors: Amstutz, Ursula; Bonadies, Nicolas; Carvajal, Alfonso; Cismaru, Anca Liliana; Eriksson, Niclas; EuDAC Collaborators; Hallberg, Par; Haschke, Manuel; Ibanez, Luisa; Krahenbuhl, Stephan et al.
DOI: 10.3390/genes11111275

Genome-wide association study of platelet reactivity and cardiovascular response in patients treated with clopidogrel: a study by the International Clopidogrel Pharmacogenomics Consortium (ICPC).

PMID: 32472697
Journal: CLINICAL PHARMACOLOGY & THERAPEUTICS
Year: 2020
Reference: Clin Pharmacol Ther. 2020 Nov;108(5):1067-1077. doi: 10.1002/cpt.1911. Epub 2020 Jul 9.
Impact factor: 6.565
Publication type: Paper in international publication
Authors: Mitchell, Braxton D, Verma, Shefali Setia, Bergmeijer, Thomas O, Gong, Li, Reny, Jean-Luc, Lewis, Joshua P, Schwab, Matthias, Shin, Jae Gook, Siller-Matula, Jolanta M, Ten Berg, Jurrien M et al.
DOI: 10.1002/cpt.1911

Genome-wide association study of platelet reactivity and cardiovascular response in patients treated with clopidogrel: a study by the International Clopidogrel Pharmacogenomics Consortium (ICPC).

PMID: 32472697
Journal: CLINICAL PHARMACOLOGY & THERAPEUTICS
Year: 2020
Reference: Clin Pharmacol Ther. 2020 Nov;108(5):1067-1077. doi: 10.1002/cpt.1911. Epub 2020 Jul 9.
Impact factor:
Publication type: Paper in international publication
Authors: Alexopoulos, Dimitrios; Altman, Russ B; Aradi, Daniel; Backman, Joshua D; Bergmeijer, Thomas O; Bliden, Kevin; Bradford, Yuki; Campo, Gianluca; Chang, Kiyuk; Cleator, John H et al.
DOI: 10.1002/cpt.1911

Publications

Publications searcher

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.

Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.

Genetic counsellors in a multidisciplinary model of clinical genetics and hereditary cancer.

Genetic counsellors in a multidisciplinary model of clinical genetics and hereditary cancer.

Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.

Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.

Genetic manipulation of LKB1 elicits lethal metastatic prostate cancer.

Genetic polymorphisms of IL17A associated with Chagas disease: results from a meta-analysis in Latin American populations.

Genetic polymorphisms of IL17A associated with Chagas disease: results from a meta-analysis in Latin American populations.

Genetic Predictors of Long-term Response to Anti-TNF Agents in Pediatric Inflammatory Bowel Disease.

Genetic Predictors of Long-term Response to Anti-TNF Agents in Pediatric Inflammatory Bowel Disease.

Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification.

Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification.

Genetic Testing for the Clinician in Prostate Cancer.

Genetic Testing for the Clinician in Prostate Cancer.

Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage.

Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage.

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

Genome-Wide Association Study of Metamizole-Induced Agranulocytosis in European Populations.

Genome-Wide Association Study of Metamizole-Induced Agranulocytosis in European Populations.

Genome-wide association study of platelet reactivity and cardiovascular response in patients treated with clopidogrel: a study by the International Clopidogrel Pharmacogenomics Consortium (ICPC).

Genome-wide association study of platelet reactivity and cardiovascular response in patients treated with clopidogrel: a study by the International Clopidogrel Pharmacogenomics Consortium (ICPC).

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