Research

Neurogenetics and Molecular Medicine

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Publications

  • Domínguez-Rovira X, Arnau-Collell C, Gonfaus-Ortiz G, Llargués-Sistac G, Muñoz J, Llopis A, Soares de Lima Y, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Cuatrecasas M, Carballal S, López-Novo A, Fernandez-Isern G, Castells A, Bujanda L, Capellà G, Cubiella J, Rodríguez-Alcalde D, Valle L, Balaguer F, Ruiz-Ponte C, Bonjoch L and Castellví-Bel S.

    Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.

    INTERNATIONAL JOURNAL OF CANCER . 157(6): 1154-1167.

    [doi:10.1002/ijc.35492]

  • Frías M, Badosa-Gallego MC, Jimenez-Mallebrera C, Porta JM and Roldan-Molina M.

    The artificial intelligence challenge in rare disease diagnosis: A case study on collagen VI muscular dystrophy.

    Computers in biology and medicine . 196(Pt A): 110610-110610.

    [doi:10.1016/j.compbiomed.2025.110610]

  • Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.

    Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease

    ANNALS OF NEUROLOGY . : .

    [doi:10.1002/ana.78005]

  • Alvaro S, Castillo D, Genovés-Escarré J, Prados ED, Levorato M, Albertí A, Díaz Á, Sara Cardelus Vidal and Martorell-Sampol L.

    Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients.

    JOURNAL OF HUMAN GENETICS . 70(8): 395-403.

    [doi:10.1038/s10038-025-01347-9]

  • Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero-Siles D, Codina-Bergadà A, Ortez-Gonzalez CI, Medina J, De Sena-De Cabo L, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Tizzano E, Nascimento-Osorio A and Natera-de Benito D.

    Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.

    Annals of Clinical and Translational Neurology . 12(8): 1528-1547.

    [doi:10.1002/acn3.70088]

  • Felipe, DF, Casas-Alba D, Sadok, SH, Fernández-Pérez MT, Vega-Hanna, L, Plaza, L, Vicente-Villa MA, Armstrong-Moron J, Guillén-Navarro, E and Martinez-Monseny T.

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

    GENES . 16(8): .

    [doi:10.3390/genes16080925]

  • Saffie-Awad P, Grant SM, Makarious MB, Elsayed I, Sanyaolu AO, Crea PW, Schumacher Schuh AF, Levine KS, Vitale D, Koretsky MJ, Kim J, Peixoto Leal T, Periñán MT, Dey S, Noyce AJ, Reyes-Palomares A, Rodriguez-Losada N, Foo JN, Mohamed W, Heilbron K, Norcliffe-Kaufmann L, Rizig M, Okubadejo N, Nalls MA, Blauwendraat C, Singleton A, Leonard H, Mata IF and Bandres-Ciga S.

    Insights into ancestral diversity in Parkinson's disease risk: a comparative assessment of polygenic risk scores.

    npj Parkinsons Disease . 11(1): 201-201.

    [doi:10.1038/s41531-025-00967-4]

  • CastilloSD, Perosanz X, Ressler AK, Ivars M, Rodriguez J, Rovira-Zurriaga C, Nola EM, Llena J, Grego-Bessa J, Roldan-Molina M, Arnau R, Martínez-Romero A, Barber-Martínez de la Torre I, Miguel Bejarano Serrano, Vicente-Villa MA, Celis-Passini V, Salvador-Hernandez H, Mora J, Marchuk DA, Baselga E and Graupera M.

    Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

    CANCER DISCOVERY . 15(7): 1350-1362. Number of citations: 2

    [doi:10.1158/2159-8290.CD-24-0807]

  • Segarra-Casas A, Domínguez-González C, Natera-de Benito D, Kapetanovic S, Hernández-Laín A, Estévez-Arias B, Llansó L, Ortez-Gonzalez CI, Jou-Munoz C, Martí-Carrera I, López-Marquez A, Rodríguez MJ, González-Mera L, Nedkova V, Fernández-Torrón R, Rodríguez-Santiago B, Jimenez-Mallebrera C, Juntas-Morales R, López-de Munain A, Surrallés J, Nascimento-Osorio A, Gallardo E, Olive-Valls M, Gallano P and González-Quereda L.

    Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.

    Annals of Clinical and Translational Neurology . 12(7): 1465-1479.

    [doi:10.1002/acn3.70078]

  • Vela-Desojo L, Pascual-Rodriguez A, Montal V, Guerrero C, Osuna-Lopez M, Guallar V, Palau F and Hoenicka J.

    A new LRRK2 variant in a family with Parkinson's disease affects binding to RAB8A.

    npj Parkinsons Disease . 11(1): 154-154.

    [doi:10.1038/s41531-025-00989-y]