GALLANO PETIT, MARIA PIA FGS
pgallano@santpau.cat
Abuli Vidal, Anna FGS
Baena Gimeno, Manel FGS
Bernal Noguera, Sara FGS
Cliville Santano, Nuria FGS
Cornet Ciurana, Monica FGS
Cusco Marti, Ivon FGS
Gonzalez Quereda, Lidia FGS
Lasa Laborde, Adriana Maria FGS
Riera Armengol, Pau FGS
Rodriguez Fernandez, Maria Jose FGS
Rodriguez Santiago, Benjamin FGS
Roig Mombru, Maria Carmen FGS
Segarra Casas, Alba IR
Serra Juhe, Clara FGS
Tejero Laguna, Eudald IR
Vega Hanna, Lourdes Rita FGS
Villa Marcos, Olaya FGS
GALLANO PETIT, MARIA PIA FGS
pgallano@santpau.cat
Abuli Vidal, Anna FGS
Baena Gimeno, Manel FGS
Bernal Noguera, Sara FGS
Cliville Santano, Nuria FGS
Cornet Ciurana, Monica FGS
Cusco Marti, Ivon FGS
Gonzalez Quereda, Lidia FGS
Lasa Laborde, Adriana Maria FGS
Riera Armengol, Pau FGS
Rodriguez Fernandez, Maria Jose FGS
Rodriguez Santiago, Benjamin FGS
Roig Mombru, Maria Carmen FGS
Segarra Casas, Alba IR
Serra Juhe, Clara FGS
Tejero Laguna, Eudald IR
Vega Hanna, Lourdes Rita FGS
Villa Marcos, Olaya FGS
(JIF 2024)
-Carbayo Á, Borrego-Écija S, Turon-Sans J, Cortés-Vicente E, Molina-Porcel L, Gascón-Bayarri J, Rubio MÁ, Povedano M, Gámez J, Sotoca J, Juntas-Morales R, Almendrote M, Marquié M, Sánchez-Valle R, Illán-Gala I, Dols-Icardo O, Rubio-Guerra S, Bernal S, Caballero-Ávila M, Vesperinas A, Gelpi E, Rojas-García R. Clinicopathological correlates in the frontotemporal lobar degeneration-motor neuron disease spectrum. BRAIN. 2024; 147(7). DOI:10.1093/brain/awae011. PMID:38227807. IF:11,700 (Q1/1D). Document type: Article.
-Cavestro C, Morra F, Legati A, D’Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra-Juhé C, Rodríguez-Santiago B, Turón-Viñas E, Prouteau C, Barth M, Hayflick SJ, Ghezzi D, Tiranti V, Di Meo I. Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases. Annals of Clinical and Translational Neurology. 2024; 11(6). DOI:10.1002/acn3.52079. PMID:38750253. IF:3,900 (Q1/3D). Document type: Article.
-de Dios A, Pages N, Ojeda S, Riera P, Pelegrin R, Morollon N, Belvis R, Real J, Masip M. Persistence, effectiveness, and tolerability of anti-calcitonin gene-related peptide monoclonal antibodies in patients with chronic migraine. HEADACHE. 2024; DOI:10.1111/head.14827. PMID:39268992. IF:4,000 (Q1/2D). Document type: Article.
-De Pourcq JT, Riera A, Gras L, Garin N, Busquets MA, Cardenete J, Cardona D, Riera P. Physicochemical Compatibility of Ceftolozane-Tazobactam with Parenteral Nutrition. Pharmaceuticals. 2024; 17(7):896. DOI:10.3390/ph17070896. PMID:39065746. IF:4,800 (Q1/2D). Document type: Article.
-Dols O, Carbayo A, Jericó I, Blasco O, Alvarez E, Pérez M, Bernal S, Rodríguez B, Cusco I, Turon J, Cabezas M, Caballero M, Vesperinas A, Llansó L, Pagola I, Torné L, Valle N, Muñoz L, Rubio S, Illán I, Cortés E, Gelpi E, Rojas R. Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2024; DOI:10.1136/jnnp-2024-333834. PMID:38960585. IF: 7,500 (Q1/1D). Document type: Article.
-Esmel R, Miguel LDD, Artigas A, Turón E, Cuscó I, Díaz A, Panadés LPD, Rocamora R, Boronat S. Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy. European Journal of Medical Genetics. 2024; 71:104965. DOI:10.1016/j.ejmg.2024.104965. PMID:39094681. IF:1,700 (Q3/8D). Document type: Article.
-Ligero C, Riera P, El-Amrani A, Bazan V, Guerra JM, Herraez S, Viñolas X, Alegret JM. Impact of Body Mass Index in the Cardioverter Efficacy of Amiodarone in Persistent Atrial Fibrillation. Pharmaceuticals. 2024; 17(6):693. DOI:10.3390/ph17060693. PMID:38931360. IF:4,800 (Q1/2D). Document type: Article.
-Llansó L, Segarra-Casas A, Domínguez-González C, Malfatti E, Kapetanovic S, Rodríguez-Santiago B, de la Calle O, Blanco R, Dobrescu A, Nascimento-Osorio A, Paipa A, Hernandez-Lain A, Jou C, Mariscal A, González-Mera L, Arteche A, Lleixà C, Caballero-Ávila M, Carbayo Á, Vesperinas A, Querol L, Gallardo E, Olivé M. Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy. Neurology-Neuroimmunology & Neuroinflammation. 2024; 11(5):e200285. DOI:10.1212/NXI.0000000000200285. PMID:39106428. IF:7,500 (Q1/1D). Document type: Article.
-Lobo D, Sainz L, Laiz A, De Dios A, Fontcuberta L, Fernández S, Masip M, Riera P, Pages N, Ros S, Gomis M, Corominas H. Designing an integrated care pathway for spondyloarthritis: A Lean Thinking approach. JOURNAL OF EVALUATION IN CLINICAL PRACTICE. 2024; DOI:10.1111/jep.14132. PMID:39253893. IF:2,100 (Q2/3D). Document type: Article.
-Mármol MCC, Aguado M, Cajal TRY, Gallardo A, Catasus L, Gonzalez A, Mendez JE, Lasa A, Arumi M, Rubio OG, Serra JB, Hernandez FM, von A, Kommoss FKF, Espinosa I. Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature. Pathologica. 2024; 116(3). DOI:10.32074/1591-951X-970. PMID:38979591. IF:2,900 (Q2/4D). Document type: Review.
-Martín-Cullell B, Virgili AC, Riera P, Fumagalli C, Mirallas O, Pelegrín FJ, Sánchez-Cabús S, Molina V, Szafranska J, Páez D. Histopathological, Clinical, And Molecular (HICAM) score for patients with colorectal liver metastases. BRITISH JOURNAL OF SURGERY. 2024; 111(3):znae016. DOI:10.1093/bjs/znae016. PMID:38488528. IF:8,800 (Q1/1D). Document type: Article.
-Masip M, Pagès-Puigdemont N, López-Ferrer A, de Paz HD, Serra-Baldrich E, Puig L, Riera P. Defining the Care Pathway in Patients with Psoriasis and Atopic Dermatitis. Patient Preference and Adherence. 2024; 18DOI:10.2147/PPA.S489731. PMID:39574936. IF:2,000 (Q2/4D). Document type: Article.
-Moreno-Cabrera JM, Feliubadaló L, Pineda M, Prada-Dacasa P, Ramos-Muntada M, Del Valle J, Brunet J, Gel B, Currás-Freixes M, Calsina B, Salazar-Hidalgo ME, Rodríguez-Balada M, Roig B, Fernández-Castillejo S, Durán Domínguez M, Arranz Ledo M, Infante Sanz M, Castillejo A, Dámaso E, Soto JL, de Miguel M, Hidalgo Calero B, Sánchez-Zapardiel JM, Ramon Y Cajal T, Lasa A, Gisbert-Beamud A, López-Novo A, Ruiz-Ponte C, Potrony M, Álvarez-Mora MI, Osorio A, Lorda-Sánchez I, Robledo M, Cascón A, Ruiz A, Spataro N, Hernan I, Borràs E, Moles-Fernández A, Earl J, Cadiñanos J, Sánchez-Heras AB, Bigas A, Capellá G, Lázaro C. SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population. Database-The Journal of Biological Databases and Curation. 2024; 2024:baae055. DOI:10.1093/database/baae055. PMID:38965703. IF:3,600 (Q1/2D). Document type: -Article.
-Palones E, Curto E, Plaza V, González-Quereda L, Segarra-Casas A, Querol L, Bertoletti F, Rodríguez MJ, Gallano P, Crespo-Lessmann A. Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS). J Neurol. 2024; 271(3):1204-1212. DOI:10.1007/s00415-023-12001-9. PMID:37917234. IF:4,600 (Q1/2D). Document type: Article.
-Palones E, Plaza V, Gonzalez-Quereda L, Segarra-Casas A, Querol L, Bertoletti F, Rodriguez MJ, Gallano P, Crespo-Lessmann A. Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1). ARCHIVOS DE BRONCONEUMOLOGIA. 2024; 60(8). DOI:10.1016/j.arbres.2024.04.028. PMID:38755058. IF:9,200 (Q1/1D). Document type: Article.
-Paneque M, O Shea R, Narravula A, Siglen E, Ciuca A, Abulí 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). Document type: Article.
-Salazar J, Riera P, Gordillo J, Altès A, Martínez M, Serès M, Llaó J, Giordano A, Garcia-Planella E. Predictive role of ITPA genetic variants in thiopurine-related myelotoxicity in Crohn’s disease patients. PHARMACOGENOMICS JOURNAL. 2024; 24(4):20. DOI:10.1038/s41397-024-00341-2. PMID:38906864. IF:2,900 (Q2/4D). Document type: Article.
-Segarra A, Yepez VA, Demidov G, Laurie S, Esteve A, Gagneur J, Parkhurst Y, Muni R, Harris E, Marini C, Straub V, Töpf A. An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2024; 25(14):7793. DOI:10.3390/ijms25147793. PMID:39063034. IF:4,900 (Q1/3D). Document type: Article.
-Sierra-Marcos A, Ribosa-Nogué R, Vidal-Robau N, Aldecoa I, Turón E, Rodríguez-Santiago B, Turón M, Boronat S, Molina-Porcel L. Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers. EPILEPSY RESEARCH. 2024; 199:107266. DOI:10.1016/j.eplepsyres.2023.107266. PMID:38061235. IF:2,000 (Q3/7D). Document type: Article.
(JIF 2023)
-Abuli A, Costa M, Codina M, Valenzuela I, Leno J, Rovira E, Cueto A, Fernandez P, Garcia 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:3,500 (Q2/4D). Document type: Article.
-Arqueros C, Salazar J, Gallardo A, Andrés M, Tibau A, Bell OL, Artigas A, Lasa A, Cajal T, Lerma E, Barnadas A. Secreted Protein Acidic and Rich in Cysteine (SPARC) Polymorphisms in Response to Neoadjuvant Chemotherapy in HER2-Negative Breast Cancer Patients. Biomedicines. 2023; 11(12):3231. DOI:10.3390/biomedicines11123231. PMID:38137452. IF:3,900 (Q1/3D). Document type: Article.
-Bermejo L, Fernández CPD, González L, Segarra A, Nedkova V, Gallano P, Martín P, Hernández A, Olivé M, Arteche A, Domínguez C. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients. NEUROMUSCULAR DISORDERS. 2023; 33(12). DOI:10.1016/j.nmd.2023.10.016. PMID:38016875. IF:2,700 (Q2/4D). Document type: Article.
-Codina M, Trujillano L, Abuli A, Rovira E, Munoz P, Campos B, Fernandez P, Palau D, Carrasco E, Valenzuela I, Cueto AM, Lasa A, Limeres J, Leno J, Costa M, Moles A, Balmana J, Diez O, Cusco I, Garcia 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). Document type: Article.
-Collet R, Olmedo G, Ruiz I, Martinez A, Rodriguez B, Bernal S, Kulisevsky J, Pagonabarraga J. Late-Onset Beta-Propeller Protein-Associated Neurodegeneration: A Case Report. Movement Disorders Clinical Practice. 2023; 10(8). DOI:10.1002/mdc3.13811. PMID:37635772. IF:2,600 (Q2/5D). Document type: Article.
-De Pourcq JT, Riera P. Critical Commentary on the paper: Compatibility of prolonged infusion antibiotics during Y-site administration with parenteral nutrition. Nursing in Critical Care. 2023; 28(6). DOI:10.1111/nicc.12910. PMID:37232328. IF:3,000 (Q1/1D). Document type: Editorial Material.
-Esmel R, Valenzuela I, Riaza L, Rodríguez B, Rosés F, Boronat S, Sabaté A. Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients. European Journal of Medical Genetics. 2023; 66(9):104823. DOI:10.1016/j.ejmg.2023.104823. PMID:37619836. IF:1,600 (Q3/8D). Document type: Article.
-Iznardo H, Bernal S, Boronat S, Roé E. Sclerotic Bone Lesions as a Clue in the Diagnosis of Three Generations of Tuberous Sclerosis Complex: Case Report and Review of Literature. PEDIATRIC NEUROLOGY. 2023; 148. DOI:10.1016/j.pediatrneurol.2023.07.022. PMID:37634327. IF:3,200 (Q1/2D). Document type: Article.
-Miarons M, Gordon AM, Riera P, Nicolas FG, Spanish Soc Hosp Pharm S. Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study. ONCOLOGIST. 2023; 28(5):e304-e308. DOI:10.1093/oncolo/oyad077. PMID:37014829. IF:4,800 (Q1/3D). Document type: Article.
-Mir JF, Rodriguez C, Estrada M, de Gamarra EF, Mangues MA, Bagaria G, Riera P. An Integrated Multidisciplinary Circuit Led by Hospital and Community Pharmacists to Implement Clopidogrel Pharmacogenetics in Clinical Practice. Pharmacy. 2023; 11(2):76. DOI:10.3390/pharmacy11020076. PMID:37104082. IF:2,000 (Q3/7D). Document type: Article.
-Palones E, Curto E, Plaza V, Gonzalez L, Segarra A, Querol L, Bertoletti F, Rodriguez MJ, Gallano P, Crespo A. Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS). JOURNAL OF NEUROLOGY. 2023; DOI:10.1007/s00415-023-12001-9. PMID:37917234. IF:4,800 (Q1/2D). Document type: Article.
-Paneque M, Guimarães L, Bengoa J, Pasalodos S, Cordier C, Esteban I, Lemos C, Moldovan R, Serra C. An European overview of genetic counselling supervision provision. European Journal of Medical Genetics. 2023; 66(4):104710. DOI:10.1016/j.ejmg.2023.104710. PMID:36731744. IF:1,600 (Q3/8D). Document type: Article.
-Rodríguez PM, Ravenscroft G, Natera D, Carr A, Manzur A, Liu WW, Vella NR, Jericó I, Gonzalez L, Gallano P, Montalto SA, Davis MR, Lamont PJ, Laing NG, 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). Document type: Article.
-Sainz L, Riera P, Moya P, Bernal S, Casademont J, Díaz C, Millán AM, Park HS, Lasa A, Corominas H. Clinical Value of IL6R Gene Variants as Predictive Biomarkers for Toxicity to Tocilizumab in Patients with Rheumatoid Arthritis. Journal of Personalized Medicine. 2023; 13(1):61. DOI:10.3390/jpm13010061. PMID:36675722. IF:3,000 (Q1/2D). Document type: Article.
-Sainz L, Riera P, Moya P, Bernal S, Casademont J, Diaz C, Millan AM, Park HS, Lasa A, Corominas H. Impact of IL6R genetic variants on treatment efficacy and toxicity response to sarilumab in rheumatoid arthritis. ARTHRITIS RESEARCH & THERAPY. 2023; 25(1):226. DOI:10.1186/s13075-023-03209-1. PMID:38001504. IF:4,400 (Q1/3D). Document type: Article.
-Sarkozy A,Bourke JP,Ferlini A,Barthélémy I,Cripe LH,Reuben E,Evangelista T et al. 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. THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND:PERGAMON-ELSEVIER SCIENCE LTD. 2023. p.p. 274-284. Document type: Conference Paper.
-Segarra A, Collet R, Gonzalez L, Vesperinas A, Caballero M, Carbayo A, Diaz J, Rodriguez MJ, Gallardo E, Gallano P, Olive M. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness. NEUROMUSCULAR DISORDERS. 2023; 33(4). DOI:10.1016/j.nmd.2023.02.006. PMID:36893608. IF:2,700 (Q2/4D). Document type: Article.
-Segarra A, Dominguez C, Hernandez A, Sanchez MT, Camacho A, Rivas E, Campo A, Madruga M, Ortez C, Natera D, Nascimento A, Codina A, Rodriguez MJ, Gallano P, Gonzalez 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:3,500 (Q2/4D). Document type: Article.
-Trifunov S, Natera D, Carrera L, Codina A, Expósito J, Ortez C, Medina J, Alcala ST, Bernal S, Alias L, Badosa C, Balsells S, Alcolea D, Nascimento A, Jimenez C. Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen. Journal Of Neuromuscular Diseases. 2023; 10(4). DOI:10.3233/JND-230012. PMID:37038823. IF:3,200 (Q2/3D). Document type: Article.
(JIF 2022)
