Perry, MS, Scheffer, IE, Sullivan, J, Brunklaus, A, Boronat, S, Wheless, JW, Laux, L, Patel, AD, Roberts, CM, Dlugos, D, Holder, D, Knupp, KG, Lallas, M, Phillips, S, Segal, E, Smeyers, P, Lal, D, Wirrell, E, Zuberi, S, Brünger, T, Wojnaroski, M, Maru, B, O'Donnell, P, Morton, M, James, E, Vila, MC, Huang, NR, Gofshteyn, JS, Rico, S. Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study. EPILEPSIA. 2024; 65(2)DOI:10.1111/epi.17850. PMID:38049202. IF:6.600(Q1/1D).

Awamleh, Z, Choufani, S, Wu, W, Rots, D, Dingemans, AJM, Khadri, NN, Boronat, S, Ibañez-Mico, S, Herraiz, LC, Ferrer, I, Carrascal, AM, Pérez-Jurado, LA, Lain, GA, Ortigoza-Escobar, JD, de Vries, BBA, Koolen, DA, Weksberg, R. A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32(3)DOI:10.1038/s41431-024-01538-6. PMID:38282074. IF:4.600(Q1/2D).

Moliner-Calderón E, Rabella-Garcia N, Turón-Viñas E, Ginovart-Galiana G, Figueras-Aloy J. Relevance of enteroviruses in neonatal meningitis.. Enfermedades Infecciosas Y Microbiologia Clinica (english Ed.). 2024; 42(1)DOI:10.1016/j.eimce.2022.12.012. PMID:36624031. IF:(Q/D).

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; 199DOI:10.1016/j.eplepsyres.2023.107266. PMID:38061235. IF:2.000(Q3/7D).

Hanna, LV, Serra-Juhé, C, Boronat, S, Rodríguez-Santiago, B, Baena, M, Cuscó, I. Novel truncating variant reinforces the involvement of ZNF148 in autism spectrum disorder with normal neuroimaging. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).

Marsal-Olivan, A, Díaz, A, Vega, L, Baena, M, Boronat, S, Cuscó, I, Surrallés, J, Rodríguez-Santiago, B, Serra-Juhé, C. A novel case provides new evidence of the occurrence of hereditary pathogenic variants in the RERE gene. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).

Esmel-Vilomara R., Valenzuela I., Riaza L., Rodríguez-Santiago B., Rosés-Noguer F., Boronat S., Sabaté-Rotés A.. Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients. European Journal of Medical Genetics. 2023; 66(9)DOI:10.1016/j.ejmg.2023.104823. PMID:37619836. IF:1.600(Q4/8D).

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; 148DOI:10.1016/j.pediatrneurol.2023.07.022. PMID:37634327. IF:3.200(Q1/2D).

Castillo F., Turón-Viñas E., Armendariz L., Carbonell E., Rabella N., del Cuerpo M., Moliner E.. Characteristics of enterovirus infection associated neurologic disease associated in a pediatric population in Spain. ENFERMEDADES INFECCIOSAS Y MICROBIOLOGIA CLINICA. 2023; DOI:10.1016/j.eimc.2023.02.002. PMID:. IF:(Q/D).

Alias, L, de Heredia, ML, Luna, S, Cliville, N, Gonzalez-Quereda, L, Gallano, P, de Juan, J, Pujol, A, Diez, S, Boronat, S, Orus, C, Lasa, A, Venegas, MD. Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness. Frontiers in Genetics. 2022; 13DOI:10.3389/fgene.2022.998898. PMID:36330437. IF:3.700(Q2/4D).

Arriola-Infante, JE, Morcillo-Nieto, AO, Zsadanyi, SE, Franquesa-Mullerat, M, Vaqué-Alcázar, L, Rozalem-Aranha, M, Arranz, J, Rodríguez-Baz, I, Maure-Blesa, L, Videla, L, Barroeta, I, Soriano, LD, Benejam, B, Fernández, S, Sanjuan-Hernández, A, Giménez, S, Alcolea, D, Belbin, O, Flotats, A, Camacho, V, Lleó, A, Carmona-Iragui, M, Fortea, J, Bejanin, A. Regional Brain Metabolism across the Alzheimer's Disease Continuum in Down Syndrome. ANNALS OF NEUROLOGY. 2025; 98(1)DOI:10.1002/ana.27226. PMID:40084922. IF:7.700(Q1/1D).

Montoliu-Gaya, L, Bian, SJ, Dammer, EB, Alcolea, D, Sauer, M, Martá-Ariza, M, Ashton, NJ, Belbin, O, Fuchs, J, Watson, CM, Ping, LY, Duong, DM, Nilsson, J, Barroeta, I, Lantero-Rodriguez, J, Videla, L, Benejam, B, Roberts, BR, Blennow, K, Seyfried, NT, Levey, AI, Carmona-Iragui, M, Gobom, J, Lleó, A, Wisniewski, T, Zetterberg, H, Fortea, J, Johnson, ECB. Proteomic analysis of Down syndrome cerebrospinal fluid compared to late-onset and autosomal dominant Alzheimers disease. Nature Communications. 2025; 16(1)DOI:10.1038/s41467-025-61054-z. PMID:40595720. IF:15.700(Q1/1D).

Buehner, BJ, Morcillo-Nieto, AO, Zsadanyi, SE, Aranha, MR, Arriola-Infante, JE, Vaqué-Alcazar, L, Arranz, J, Rodríguez-Baz, I, Blesa, LM, Videla, L, Barroeta, I, Soriano, LD, Benejam, B, Fernández, S, Hernandez, AS, Bargalló, N, González-Ortiz, S, Giménez, S, de Flores, R, Yushkevich, PA, Alcolea, D, Belbin, O, Lleó, A, Carmona-Iragui, M, Fortea, J, Bejanin, A. Medial temporal lobe atrophy in Down syndrome along the Alzheimer's disease continuum. BRAIN. 2025; 148(7)DOI:10.1093/brain/awaf133. PMID:40243675. IF:11.700(Q1/1D).

Mumford, P, Farrell, C, Kammuri, F, Cannavo, C, Banks, G, Yaman, U, Yu, LJL, Stewart, M, Iulita, MF, Wells, S, Salih, D, Belbin, O, Carmona-Iragui, M, Fortea, J, Wiseman, F. DOWN SYNDROME RESULTS IN AN AMPLIFIED INTERFERON RESPONSE TO AMYLOID-ß THAT IS ASSOCIATED WITH PRODROMAL ALZHEIMER'S DISEASE. GLIA. 2025; 73DOI:. PMID:. IF:5.100(Q1/2D).

González, AC, Goossens, J, Campuzano, EV, Sala, I, Sánchez-Saudinós, MB, Rodríguez-Baz, I, Lidón, L, Perlaza, D, Bejanin, A, Haapasalo, A, Fortea, J, Alcolea, D, Lleo, A, Vanmechelen, E, Belbin, O. Evaluation of cerebrospinal fluid levels of VAMP-2 and SNAP-25 in a dementia with Lewy bodies clinical cohort stratified by Alzheimer's pathophysiological biomarkers. Alzheimers Research & Therapy. 2025; 17(1)DOI:10.1186/s13195-025-01685-y. PMID:39994784. IF:7.600(Q1/1D).

Zsadanyi, SE, Morcillo-Nieto, AO, Aranha, MR, Aragón, I, Arriola-Infante, JE, Vaqué-Alcázar, L, Montal, V, Pegueroles, J, Arranz, J, Rodríguez-Baz, I, Blesa, LM, Videla, L, Barroeta, I, Soriano, LD, Benejam, B, Fernández, S, Hernandez, AS, Bargallo, N, González-Ortiz, S, Giménez, S, Alcolea, D, Belbin, O, Lleó, A, Fortea, J, Carmona-Iragui, M, Bejanin, A. Associations of Microbleeds and Their Topography With Imaging and CSF Biomarkers of Alzheimer Pathology in Individuals With Down Syndrome. NEUROLOGY. 2024; 103(4)DOI:10.1212/WNL.0000000000209676. PMID:39074338. IF:8.500(Q1/1D).

Fortea, J, Vaque-Alcazar, L, Pegueroles, J, Alcolea, D, Belbin, O, Dols-Icardo, O, Videla, L, Gispert, JD, Suarez-Calvet, M, Johnson, SC, Sperling, R, Bejanin, A, Lleo, A, Montal, V. Reply to: Challenges to identifying risk versus protective factors in Alzheimer's disease. NATURE MEDICINE. 2024; 30(11)DOI:10.1038/s41591-024-03159-4. PMID:39025967. IF:50.000(Q1/1D).

Sirisi, S, Sánchez-Aced, E, Belbin, O, Lleó, A. APP dyshomeostasis in the pathogenesis of Alzheimer's disease: implications for current drug targets. Alzheimers Research & Therapy. 2024; 16(1)DOI:10.1186/s13195-024-01504-w. PMID:38951839. IF:7.600(Q1/1D).

Jácome, D, Cotrufo, T, Andrés-Benito, P, Lidón, L, Martí, E, Ferrer, I, del Río, JA, Gavín, R. miR-519a-3p, found to regulate cellular prion protein during Alzheimer 's disease pathogenesis, as a biomarker of asymptomatic stages. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 2024; 1870(5)DOI:10.1016/j.bbadis.2024.167187. PMID:38653354. IF:4.200(Q1/2D).

Fortea, J, Pegueroles, J, Alcolea, D, Belbin, O, Dols-Icardo, O, Vaqué-Alcázar, L, Videla, L, Gispert, JD, Suárez-Calvet, M, Johnson, SC, Sperling, R, Bejanin, A, Lleó, A, Montal, V. APOE4 homozygozity represents a distinct genetic form of Alzheimer's disease. NATURE MEDICINE. 2024; DOI:10.1038/s41591-024-02931-w. PMID:38710950. IF:50.000(Q1/1D).