Persones / Equip Humà

Daniel Natera de Benito

Buscador de publicacions

Publicacions

  • Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.

    Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.

    CLINICAL CHEMISTRY . 70(12): 1443-1451.

    [doi:10.1093/clinchem/hvae139]

  • Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM and Laurie S.

    Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

    npj Genomic Medicine . 9(1): 49-49.

    [doi:10.1038/s41525-024-00436-6]

  • Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castiglioni C, Krey I, Gomez Andres D, Brady AF, Iascone M, Cereda A, Pezzani L, Natera-de Benito D, Nascimiento A, Estévez-Arias B, Kurbatov SA, Attie-Bitach T, Nampoothiri S, Ryan E, Morrow M, Gorokhova S, Chabrol B, Sinisalo J, Tolppanen H, Tolva J, Munell F, Camacho Soriano J, Sanchez Duran MA, Johari M, Tajsharghi H, Hackman P, Udd B and Savarese M.

    Inferring disease course from differential exon usage in the wide titinopathy spectrum.

    Annals of Clinical and Translational Neurology . 11(10): 2745-2755.

    [doi:10.1002/acn3.52189]

  • Nematollahi S, Dieterich K, Filges I, De Vries JIP, Van Bosse H, Natera-de Benito D, Hall JG, Sawatzky B, Bedard T, Sanchez VC, Navalon-Martinez C, Pan T, Hilton C and Dahan-Oliel N.

    Common data elements for arthrogryposis multiplex congenita: An international framework

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 66(10): 1340-1347. Nº de cites: 2

    [doi:10.1111/dmcn.15898]

  • Nematollahi S, Dieterich K, Filges I, De Vries JIP, Van Bosse H, Natera-de Benito D, Hall JG, Sawatzky B, Bedard T, Sanchez VC, Navalon-Martinez C, Pan T, Hilton C and Dahan-Oliel N.

    Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 66(10): 192-199.

    [doi:10.1111/dmcn.15914]

  • Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.

    Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

    EUROPEAN JOURNAL OF HUMAN GENETICS . : . Nº de cites: 1

    [doi:10.1038/s41431-024-01699-4]

  • Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez-Gonzalez CI, Martorell-Sampol L, Estévez-Arias B, Matalonga L, Laurie S, Jou-Munoz C, Lau J, Thompson R, Shen X, Engel AG, Nascimento-Osorio A, Lochmüller H and Selcen D.

    Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases

    PEDIATRIC NEUROLOGY . 157: 5-13.

    [doi:10.1016/j.pediatrneurol.2024.04.027]

  • Cao X, Lake M, Van der Hoeven G, Claes Z, Del Pino García J, Lemaire S, Greiner EC, Karamanou S, Van Eynde A, Kettenbach AN, Natera-de Benito D, Carrera-García L, Hernando-Davalillo C, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R and Bollen M.

    SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1

    NATURE COMMUNICATIONS . 15(1): 5359-5359. Nº de cites: 2

    [doi:10.1038/s41467-024-49746-4]

  • Armijo JA, Fernandez-Garcia, MA, Camacho, A, Liz, M, Ortez-Gonzalez CI, Lafuente-Hidalgo, M, Laguna, LTBD, Estévez-Arias B, Carrera-García L, Exposito-Escudero JM, Domínguez-Carral J, Nascimento-Osorio A and Natera-de Benito D.

    Epilepsy in Duchenne and Becker muscular dystrophies.

    Annals of Clinical and Translational Neurology . 11(6): 1456-1464.

    [doi:10.1002/acn3.52058]

  • Villafuerte, B, Carrasco-López, C, Herranz, A, Garzón, L, Simón, R, Natera-de Benito D, Alikhani, P, Tenorio, J, Garcia-Santiago, F, Solis, M, del-Pozo, A, Lapunzina, P, Ortigoza-Escobar JD, Santisteban, P and Moreno, JC.

    A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ

    THYROID . : .

    [doi:10.1089/thy.2023.0593]