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15/02/2024 Thirty-year of genetic counselling education in Europe: a growing professional area

Paneque, M, O'Shea, R, Narravula, A, Siglen, E, Ciuca, A, Abuli, A, Serra-Juhé, C. Thirty-year of genetic counselling education in Europe: a growing professional area. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; DOI:10.1038/s41431-024-01552-8. PMID:38355960. IF:4.600(Q1/2D).

01/01/2024 Mutations in CPLANE2 are responsible of a new form of orofaciodigital syndrome

Palafoll, IV, Pérez, DV, Bruel, AL, Steichen, E, Codina, M, Martínez-Gil, N, Cusco, I, Thauvin-Robinet, C, Tizzano, E. Mutations in CPLANE2 are responsible of a new form of orofaciodigital syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).

01/01/2024 Five new patients with TAOK related disorders: relevance of TAOK2 gene in neurodevelopment?

Lasa-Aranzasti, A, Palafoll, IV, Gonzalez, AMC, Fernandez, P, Cuscó, I, Trujillano, L, Campos, B, Codina, M, Leno, J, García-Arumi, E, Tizzano, E. Five new patients with TAOK related disorders: relevance of TAOK2 gene in neurodevelopment?. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).

01/06/2023 Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples

Abuli, A, Costa-Roger, M, Codina-Sola, M, Valenzuela, I, Leno-Colorado, J, Rovira-Moreno, E, Cueto-Gonzalez, A, Fernandez-Alvarez, P, Garcia-Arumi, E, Cusco, I, Tizzano, EF. Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples. JOURNAL OF MEDICAL GENETICS. 2023; 60(6)DOI:10.1136/jmg-2022-108607. PMID:36600615. IF:3.600(Q2/3D).

01/06/2023 Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

Segarra-Casas, A, Dominguez-Gonzalez, C, Hernandez-Lain, A, Sanchez-Calvin, MT, Camacho, A, Rivas, E, Campo-Barasoain, A, Madruga, M, Ortez, C, Natera-de Benito, D, Nascimento, A, Codina, A, Rodriguez, MJ, Gallano, P, Gonzalez-Quereda, L. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events. JOURNAL OF MEDICAL GENETICS. 2023; 60(6)DOI:10.1136/jmg-2022-108828. PMID:36535754. IF:3.600(Q2/3D).

01/05/2023 Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study

Miarons, M, Gordon, AM, Riera, P, Nicolas, FG. Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study. ONCOLOGIST. 2023; 28(5)DOI:10.1093/oncolo/oyad077. PMID:37014829. IF:4.800(Q1/3D).

12/01/2023 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

Sarkozy A., Bourke J.P., Ferlini A., Barthélémy I., Cripe L.H., Reuben E., Evangelista T., Ferlini A., Florian A., Gribnau J., Gonzalez-Quereda L., Guglieri M., Niks E., Phadke R., Politano L., Quinlivan R., Vissing J., Voermans N., Vroom E., Pietrusz A., Fortunato F., Houwen S.. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022. NEUROMUSCULAR DISORDERS. 2023; 33(3)DOI:10.1016/j.nmd.2023.01.003. PMID:36804616. IF:2.700(Q2/4D).

01/01/2023 An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history

Codina-Sola, M, Trujillano, L, Abuli, A, Rovira-Moreno, E, Munoz-Cabello, P, Campos, B, Fernandez-Alvarez, P, Palau, D, Carrasco, E, Valenzuela, I, Cueto-Gonzalez, AM, Lasa-Aranzasti, A, Limeres, J, Leno-Colorado, J, Costa-Roger, M, Moles-Fernandez, A, Balmana, J, Diez, O, Cusco, I, Garcia-Arumi, E, Tizzano, EF. An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history. EUROPEAN JOURNAL OF HUMAN GENETICS. 2023; 31(2)DOI:10.1038/s41431-022-01240-5. PMID:36446894. IF:3.700(Q2/3D).

01/01/2023 An European overview of genetic counselling supervision provision

Paneque M., Guimarães L., Bengoa J., Pasalodos S., Cordier C., Esteban I., Lemos C., Moldovan R., Serra-Juhé C.. An European overview of genetic counselling supervision provision. European Journal of Medical Genetics. 2023; 66(4)DOI:10.1016/j.ejmg.2023.104710. PMID:36731744. IF:1.600(Q4/8D).

01/01/2023 A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

Rodríguez Cruz P.M., Ravenscroft G., Natera D., Carr A., Manzur A., Liu W.W., Vella N.R., Jericó I., Gonzalez-Quereda L., Gallano P., Montalto S.A., Davis M.R., Lamont P.J., Laing N.G., Bourque P., Nascimento A., Muntoni F., Polavarapu K., Lochmüller H., Palace J., Beeson D.. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1. NEUROMUSCULAR DISORDERS. 2023; 33(2)DOI:10.1016/j.nmd.2022.12.011. PMID:36634413. IF:2.700(Q2/4D).

31/08/2022 On the necessity of recognizing so-called Core professional groups within the genetic healthcare in Europe (vol 34, pg 81, 2022)

Paneque, M, Juhe, CS, Melegh, B, Carreira, I, Moog, U, Liehr, T. On the necessity of recognizing so-called Core professional groups within the genetic healthcare in Europe (vol 34, pg 81, 2022). Medizinische Genetik. 2022; 34(2)DOI:10.1515/medgen-2022-2122. PMID:. IF:1.100(Q4/10D).

01/08/2022 A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome

Lucia-Campos, C, Valenzuela, I, Latorre-Pellicer, A, Ros-Pardo, D, Gil-Salvador, M, Arnedo, M, Puisac, B, Castells, N, Plaja, A, Tenes, A, Cusco, I, Trujillano, L, Ramos, FJ, Tizzano, EF, Gomez-Puertas, P, Pie, J. A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome. Genes. 2022; 13(8)DOI:10.3390/genes13081413. PMID:36011323. IF:3.500(Q2/4D).

01/01/2022 Eficacia y seguridad de dosis altas de irinotecán en pacientes con cáncer colorrectal metastásico tratados con el esquema FOLFIRI en función del genotipo de UGT1A1: Revisión sistemática

Miarons M., Riera P., García-Gil S., Gutiérrez-Nicolás F.. Eficacia y seguridad de dosis altas de irinotecán en pacientes con cáncer colorrectal metastásico tratados con el esquema FOLFIRI en función del genotipo de UGT1A1: Revisión sistemática. Farmacia Hospitalaria. 2022; 46(4)DOI:10.7399/fh.11736. PMID:36183220. IF:(Q/D).

31/07/2025 Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome

Felipe, DF, Casas-Alba, D, Sadok, SH, Fernández, MT, Vega-Hanna, L, Plaza, L, Villa, AV, Armstrong, J, Guillén-Navarro, E, Martínez-Monseny, AF. Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome. Genes. 2025; 16(8)DOI:10.3390/genes16080925. PMID:40869974. IF:2.800(Q2/5D).

01/10/2024 An integrated transcriptomics and genomics approach to detect an X/autosome translocation in a female with Duchenne muscular dystrophy

Segarra-Casas, A, Yépez, V, Demidov, G, Laurie, S, Esteve, A, Gagneur, J, Parkhurst, Y, Muni-Lofra, R, Harris, E, Marini-Bettolo, C, Straub, V, Töpf, A. An integrated transcriptomics and genomics approach to detect an X/autosome translocation in a female with Duchenne muscular dystrophy. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).

01/10/2024 Genetic mosaicism, an underestimated event in genetically unsolved neuromuscular patients: study of two families

Estévez-Arias, B, Segarra-Casas, A, Ortez, C, Matalonga, L, Carrera-García, L, Expósito-Escudero, J, Jou, C, Codina, A, Jiménez-Mallebrera, C, Martorell, L, Lochmüller, H, Töpf, A, Beltran, S, Hoenicka, J, Palau, F, Martí, I, Gallano, P, Nascimento, A, Natera-de Benito, D, González-Quereda, L. Genetic mosaicism, an underestimated event in genetically unsolved neuromuscular patients: study of two families. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).

01/10/2024 Familial case of Bethlem myopathy caused by an ALU insertion in COL6A2

Luce, L, Demidov, G, Duff, J, McFarlane, A, Segarra-Casas, A, Laurie, S, de Visser, M, van der Kooi, A, Straub, V, Töpf, A. Familial case of Bethlem myopathy caused by an ALU insertion in COL6A2. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).

01/10/2024 Monoallelic DAG1 truncating variants in patients with hyperCKemia

Segarra-Casas, A, Trainor, C, Polavarapu, K, Díaz-Manera, J, Gonzalez-Quereda, L, Kirschner, J, de Munain, AL, Nascimento, A, Roos, A, Dowling, J, Muntoni, F, Töpf, A, Straub, V. Monoallelic DAG1 truncating variants in patients with hyperCKemia. NEUROMUSCULAR DISORDERS. 2024; 43DOI:10.1016/j.nmd.2024.07.257. PMID:. IF:2.800(Q2/5D).

01/04/2022 LDL Cholesterol Reduction Variability with Different Types and Doses of Statins in Monotherapy or Combined with Ezetimibe. Results from the Spanish Arteriosclerosis Society Dyslipidaemia Registry

Climent, E, Bea, AM, Benaiges, D, Brea-Hernando, A, Pinto, X, Suarez-Tembra, M, Perea, V, Plana, N, Blanco-Vaca, F, Pedro-Botet, J. LDL Cholesterol Reduction Variability with Different Types and Doses of Statins in Monotherapy or Combined with Ezetimibe. Results from the Spanish Arteriosclerosis Society Dyslipidaemia Registry. CARDIOVASCULAR DRUGS AND THERAPY. 2022; 36(2)DOI:10.1007/s10557-020-07137-z. PMID:33555511. IF:3.400(Q2/5D).

01/10/2021 Malondialdehyde-modified HDL particles elicit a specific IgG response in abdominal aortic aneurysm

Rodriguez-Carrio, J, Cerro-Pardo, I, Lindholt, JS, Bonzon-Kulichenko, E, Martinez-Lopez, D, Roldan-Montero, R, Escola-Gil, JC, Michel, JB, Blanco-Colio, LM, Vazquez, J, Suraez, A, Martin-Ventura, JL. Malondialdehyde-modified HDL particles elicit a specific IgG response in abdominal aortic aneurysm. FREE RADICAL BIOLOGY AND MEDICINE. 2021; 174DOI:10.1016/j.freeradbiomed.2021.08.004. PMID:34364980. IF:8.101(Q1/2D).

01/08/2021 Apolipoprotein and LRP1-Based Peptides as New Therapeutic Tools in Atherosclerosis

Amaro, AB, Curco, AS, Garcia, E, Julve, J, Rives, J, Benitez, S, Cortes, VL. Apolipoprotein and LRP1-Based Peptides as New Therapeutic Tools in Atherosclerosis. Journal of Clinical Medicine. 2021; 10(16)DOI:10.3390/jcm10163571. PMID:34441867. IF:4.964(Q2/4D).

01/08/2021 Apolipoprotein mimetics in cancer

Delk, SC, Chattopadhyay, A, Escola-Gil, JC, Fogelman, AM, Reddy, ST. Apolipoprotein mimetics in cancer. SEMINARS IN CANCER BIOLOGY. 2021; 73DOI:10.1016/j.semcancer.2020.11.002. PMID:33188891. IF:17.012(Q1/1D).

01/08/2021 Beneficial effects of olive oil and Mediterranean diet on cancer physio-pathology and incidence

Farras, M, Almanza-Aguilera, E, Hernaez, A, Agusti, N, Julve, J, Fito, M, Castaner, O. Beneficial effects of olive oil and Mediterranean diet on cancer physio-pathology and incidence. SEMINARS IN CANCER BIOLOGY. 2021; 73DOI:10.1016/j.semcancer.2020.11.011. PMID:33249203. IF:17.012(Q1/1D).

01/08/2021 High-Density Lipoproteins and Cardiovascular Disease: The Good, the Bad and the Future

Julve, J, Escola-Gil, JC. High-Density Lipoproteins and Cardiovascular Disease: The Good, the Bad and the Future. Biomedicines. 2021; 9(8)DOI:10.3390/biomedicines9080857. PMID:34440061. IF:4.757(Q2/4D).

01/08/2021 Impact of Dietary Lipids on the Reverse Cholesterol Transport: What We Learned from Animal Studies

Papotti, B, Escola-Gil, JC, Julve, J, Poti, F, Zanotti, I. Impact of Dietary Lipids on the Reverse Cholesterol Transport: What We Learned from Animal Studies. Nutrients. 2021; 13(8)DOI:10.3390/nu13082643. PMID:34444804. IF:6.706(Q1/2D).

01/08/2021 Special issue: Diet, lipids, and cancer: From Pathogenic mechanisms to potential therapeutic strategies

Farras, M, Escola-Gil, JC. Special issue: Diet, lipids, and cancer: From Pathogenic mechanisms to potential therapeutic strategies. SEMINARS IN CANCER BIOLOGY. 2021; 73DOI:10.1016/j.semcancer.2021.05.015. PMID:34015466. IF:17.012(Q1/1D).

01/07/2021 Y High-Density Lipoproteins and Cardiovascular Disease: The Good, the Bad, and the Future

Julve, J, Escola-Gil, JC. Y High-Density Lipoproteins and Cardiovascular Disease: The Good, the Bad, and the Future. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2021; 22(14)DOI:10.3390/ijms22147488. PMID:34299108. IF:6.208(Q1/3D).

18/01/2023 Gut Microbiota-Derived TMAO: A Causal Factor Promoting Atherosclerotic Cardiovascular Disease?

Canyelles M., Borràs C., Rotllan N., Tondo M., Escolà-Gil J.C., Blanco-Vaca F.. Gut Microbiota-Derived TMAO: A Causal Factor Promoting Atherosclerotic Cardiovascular Disease?. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2023; 24(3)DOI:10.3390/ijms24031940. PMID:36768264. IF:4.900(Q1/3D).

01/10/2022 Impact of Phenol-Enriched Olive Oils on Serum Metabonome and Its Relationship with Cardiometabolic Parameters: A Randomized, Double-Blind, Cross-Over, Controlled Trial

Farras, M, Swann, JR, Rowland, I, Rubio, L, Subirana, I, Catalan, U, Motilva, MJ, Sola, R, Covas, MI, Blanco-Vaca, F, Fito, M, Mayneris-Perxachs, J. Impact of Phenol-Enriched Olive Oils on Serum Metabonome and Its Relationship with Cardiometabolic Parameters: A Randomized, Double-Blind, Cross-Over, Controlled Trial. Antioxidants. 2022; 11(10)DOI:10.3390/antiox11101964. PMID:36290685. IF:7.000(Q1/1D).

01/03/2022 Galectin-1 prevents pathological vascular remodeling in atherosclerosis and abdominal aortic aneurysm

Roldan-Montero, R, Perez-Saez, JM, Cerro-Pardo, I, Oller, J, Martinez-Lopez, D, Nunez, E, Maller, SM, Gutierrez-Munoz, C, Mendez-Barbero, N, Escola-Gil, JC, Michel, JB, Mittelbrunn, M, Vazquez, J, Blanco-Colio, LM, Rabinovich, GA, Martin-Ventura, JL. Galectin-1 prevents pathological vascular remodeling in atherosclerosis and abdominal aortic aneurysm. Science Advances. 2022; 8(11)DOI:10.1126/sciadv.abm7322. PMID:35294231. IF:13.600(Q1/1D).

01/03/2022 High-Density Lipoproteins and Cardiovascular Disease: The Good, the Bad, and the Future II

Julve, J, Escola-Gil, JC. High-Density Lipoproteins and Cardiovascular Disease: The Good, the Bad, and the Future II. Biomedicines. 2022; 10(3)DOI:10.3390/biomedicines10030620. PMID:35327422. IF:4.700(Q1/3D).

01/03/2022 The Underlying Pathology of Atherosclerosis: Different Players

Rotllan, N. The Underlying Pathology of Atherosclerosis: Different Players. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(6)DOI:10.3390/ijms23063235. PMID:35328656. IF:5.600(Q1/3D).

01/03/2022 TMAO and Gut Microbial-Derived Metabolites TML and gamma BB Are Not Associated with Thrombotic Risk in Patients with Venous Thromboembolism

Canyelles, M, Plaza, M, Rotllan, N, Llobet, D, Julve, J, Mojal, S, Diaz-Ricart, M, Soria, JM, Escola-Gil, JC, Tondo, M, Blanco-Vaca, F, Souto, JC. TMAO and Gut Microbial-Derived Metabolites TML and gamma BB Are Not Associated with Thrombotic Risk in Patients with Venous Thromboembolism. Journal of Clinical Medicine. 2022; 11(5)DOI:10.3390/jcm11051425. PMID:35268516. IF:3.900(Q2/4D).

14/02/2022 Lipid-Laden Macrophages and Inflammation in Atherosclerosis and Cancer: An Integrative View

Lee-Rueckert, M, Lappalainen, J, Kovanen, PT, Escola-Gil, JC. Lipid-Laden Macrophages and Inflammation in Atherosclerosis and Cancer: An Integrative View. Frontiers in Cardiovascular Medicine. 2022; 9DOI:10.3389/fcvm.2022.777822. PMID:35237673. IF:3.600(Q2/5D).

01/02/2022 Unbiased plasma proteomics discovery of biomarkers for improved detection of subclinical atherosclerosis

Nunez, E, Fuster, V, Gomez-Serrano, M, Valdivielso, JM, Fernandez-Alvira, JM, Martinez-Lopez, D, Rodriguez, JM, Bonzon-Kulichenko, E, Calvo, E, Alfayate, A, Bermudez-Lopez, M, Escola-Gil, JC, Fernandez-Friera, L, Cerro-Pardo, I, Mendiguren, JM, Sanchez-Cabo, F, Sanz, J, Ordovas, JM, Blanco-Colio, LM, Garcia-Ruiz, JM, Ibanez, B, Lara-Pezzi, E, Fernandez-Ortiz, A, Martin-Ventura, JL, Vazquez, J. Unbiased plasma proteomics discovery of biomarkers for improved detection of subclinical atherosclerosis. EBioMedicine. 2022; 76DOI:10.1016/j.ebiom.2022.103874. PMID:35152150. IF:11.100(Q1/1D).

01/01/2022 Monitoring Atheroprotective Macrophage Cholesterol Efflux In Vivo

Rivas-Urbina A., Rotllan N., Santos D., Julve J., Sanchez-Quesada J.L., Escolà-Gil J.C.. Monitoring Atheroprotective Macrophage Cholesterol Efflux In Vivo. Methods In Molecular Biology. 2022; 2419DOI:10.1007/978-1-0716-1924-7_35. PMID:. IF:(Q/D).

01/01/2022 Assessment of Ex Vivo Antioxidative Potential of Murine HDL in Atherosclerosis

Rivas-Urbina A., Rotllan N., Santos D., Julve J., Escolà-Gil J.C., Sanchez-Quesada J.L.. Assessment of Ex Vivo Antioxidative Potential of Murine HDL in Atherosclerosis. Methods In Molecular Biology. 2022; 2419DOI:10.1007/978-1-0716-1924-7_17. PMID:. IF:(Q/D).

08/11/2021 MMAB promotes negative feedback control of cholesterol homeostasis

Goedeke, L, Canfran-Duque, A, Rotllan, N, Chaube, B, Thompson, BM, Lee, RG, Cline, GW, McDonald, JG, Shulman, GI, Lasuncion, MA, Suarez, Y, Fernandez-Hernando, C. MMAB promotes negative feedback control of cholesterol homeostasis. Nature Communications. 2021; 12(1)DOI:10.1038/s41467-021-26787-7. PMID:34750386. IF:17.694(Q1/1D).

19/09/2025 Circulating tumor DNA in patients with cancer: insights from clinical laboratory

Illana, FJ, Fernández-Galán, E, Muñoz-Bravo, JL, Amado, LV, Martín, CG, González-Fernández, C, Miró-Cañís, S, Trapé, J, Martínez-Peinado, A, Filella, X, González, A, Sánchez, AB, Díaz-Lagares, A. Circulating tumor DNA in patients with cancer: insights from clinical laboratory. ADVANCES IN LABORATORY MEDICINE-AVANCES EN MEDICINA DE LABORATORIO. 2025; 6(3)DOI:10.1515/almed-2025-0010. PMID:40977813. IF:(Q/D).

01/09/2025 Lipids and lipoproteins in the interstitial tissue fluid regulate the formation of dysfunctional tissue-resident macrophages: Implications for atherogenic, tumorigenic, and obesogenic processes

Lee-Rueckert, M, Jauhiainen, M, Kovanen, PT, Escolà-Gil, JC. Lipids and lipoproteins in the interstitial tissue fluid regulate the formation of dysfunctional tissue-resident macrophages: Implications for atherogenic, tumorigenic, and obesogenic processes. SEMINARS IN CANCER BIOLOGY. 2025; 114DOI:10.1016/j.semcancer.2025.06.008. PMID:40545184. IF:15.700(Q1/1D).