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Genòmica pel diagnòstic de malalties rares

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Publicacions

  • Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong-Moron J, Prat-Torres CS, Martinez-Monseny T, Palau F, Liu P, Adams D, Lalani S, Rosenfeld JA and Burrage LC.

    Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

    HUMAN GENETICS . 143(3): 279-291. Nº de cites: 2

    [doi:10.1007/s00439-024-02657-2]

  • Estévez-Arias B, Matalonga L, Martorell-Sampol L, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Hoenicka J, Jou-Munoz C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento-Osorio A and Natera-de Benito D.

    Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

    Journal of neuromuscular diseases . 11(3): 647-653. Nº de cites: 1

    [doi:10.3233/JND-230216]

  • Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA.

    Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function

    ANNALS OF NEUROLOGY . 94(5): 987-1004. Nº de cites: 10

    [doi:10.1002/ana.26758]

  • Perandones-González H, Rusiñol-Batlle L, Bosquez D, Brunet Ll, Ivars M, Yubero-Siles D, Sarig O, Malki L, Peled A, Sprecher E and Baselga E.

    Woolly hair in tricho-dento-osseous syndrome

    PEDIATRIC DERMATOLOGY . 40(6): 1094-1096. Nº de cites: 1

    [doi:10.1111/pde.15309]

  • Musokhranova U, Grau-Páez C, Vergara C, Rodríguez-Pascau L, Xiol-Viñas C, Castells AA, Alcántara S, Rodríguez-Pombo P, Pizcueta P, Martinell M, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome

    JOURNAL OF TRANSLATIONAL MEDICINE . 21(1): 756-756. Nº de cites: 5

    [doi:10.1186/s12967-023-04622-5]

  • Pascual-Alonso A, Xiol-Viñas C, Smirnov D, Kopajtich R, Prokisch H and Armstrong-Moron J.

    Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.

    HUMAN GENOMICS . 17(1): 85-85. Nº de cites: 4

    [doi:10.1186/s40246-023-00532-1]

  • Marina Pons Espinal, Clotet-Caba J, César-Díaz S and Yubero-Siles D.

    Arrhythmias in patients with X-linked myotubular myopathy

    REVISTA DE NEUROLOGIA . 77(3): 79-81. Nº de cites: 1

    [doi:10.33588/rn.7703.2022222]

  • Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C.

    Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    PEDIATRIC NEUROLOGY . 144: 11-15.

    [doi:10.1016/j.pediatrneurol.2023.03.004]

  • Paredes-Fuentes AJ, Oliva-Mussara C, Urreizti R, Yubero-Siles D and Artuch-Iriberri R.

    Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up

    CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES . 60(4): 270-289. Nº de cites: 5

    [doi:10.1080/10408363.2023.2166013]

  • Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F.

    Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

    BRAIN PATHOLOGY . 33(3): . Nº de cites: 5

    [doi:10.1111/bpa.13134]