People / Staff

MªDel Mar O'callaghan Gordo

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Publications

  • Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Leigh W, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero-Siles D, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Garcia-Cazorla A, Gross C, O'Callaghan-Gordo M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero-Sanchez R, Sarquella-Brugada G, Lochmüller H, Jimenez-Mallebrera C, Taylor RW, Artuch-Iriberri R, Kirschner J, Grünert SC, Roos A and Horvath R.

    Clinical presentation and proteomic signature of patients with TANGO2 mutations

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(2): 297-308. Number of citations: 53

    [doi:10.1002/jimd.12156]

  • Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.

    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

    Orphanet Journal of Rare Diseases . 15(1): 44-44. Number of citations: 29

    [doi:10.1186/s13023-020-1317-9]

  • Emperador S, Garrido-Pérez N, Amezcua-Gil J, Gaudó P, Andrés-Sanz JA, Yubero-Siles D, Fernández-Marmiesse A, O'Callaghan-Gordo M, Ortigoza-Escobar JD, Iriondo-Sanz M, Ruiz-Pesini E, Garcia-Cazorla A, Gil-Campos M, Artuch-Iriberri R, Montoya C and Bayona-Bafaluy MP.

    Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

    Frontiers in Genetics . 10: 1300-1300. Number of citations: 12

    [doi:10.3389/fgene.2019.01300]

  • De Oyarzabal-Sanz AL, Xiol-Viñas C, Castells AA, Grau-Páez C, O'Callaghan-Gordo M, Fernandez-Isern G, Alcántara S, Pineda M, Armstrong-Moron J, Altafaj X and Garcia-Cazorla A.

    Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(2): 518. Number of citations: 12

    [doi:10.3390/ijms21020518]

  • Pérez-Grijalba V, García-Oguiza A, López M, Armstrong-Moron J, García-Miñaur S, Mesa-Latorre JM, O'Callaghan-Gordo M, Pineda M, Ramos-Arroyo MA, Santos-Simarro F, Seidel V and Domínguez-Garrido E.

    New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients

    Molecular Genetics & Genomic Medicine . 7(11): . Number of citations: 25

    [doi:10.1002/mgg3.972]

  • Fernández-Marmiesse A, Sánchez-Iglesias S, Darling A, O'Callaghan-Gordo M, Tonda R, Jou-Munoz C and Araújo-Vilar D.

    A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 71: 161-165. Number of citations: 11

    [doi:10.1016/j.seizure.2019.07.019]

  • Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    Scientific Reports . 9: 11983-11983. Number of citations: 19

    [doi:10.1038/s41598-019-48385-w]

  • Vidal-Falcó S, Xiol-Viñas C, Pascual-Alonso A, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.

    Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 20(16): . Number of citations: 51

    [doi:10.3390/ijms20163925]

  • Sánchez-Iglesias S, Crocker M, O'Callaghan-Gordo M, Darling A, Garcia-Cazorla A, Domingo-Jiménez R, Castro A, Fernández-Pombo A, Ruibal Á, Aguiar P, Garrido-Pumar M, Rodríguez-Núñez A, Álvarez-Escudero J, Brown RJ and Araújo-Vilar D.

    Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

    NEUROGENETICS . 20(2): 73-82. Number of citations: 10

    [doi:10.1007/s10048-019-00574-5]

  • Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan-Gordo M, Ortez-Gonzalez CI, Nascimento-Osorio A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Munoz C, Muchart-Lopez J, Huisman TAGM, Poretti A, Lupo V, Espinós C and Pérez-Dueñas B.

    PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

    PARKINSONISM & RELATED DISORDERS . 61: 179-186. Number of citations: 36

    [doi:10.1016/j.parkreldis.2018.10.013]