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Genética y patofisiología neurosensorial

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Sólo se han incluido artículos originales, editoriales y revisiones.

  • López-Márquez A, Morín M, Fernández-Peñalver S, Badosa C, Hernández-Delgado A, Natera-de Benito D, Ortez C, Nascimento A, Grinberg D, Balcells S, Roldán M, Moreno-Pelayo MÁ, Jiménez-Mallebrera C.

    CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(8): . Nº de citas: 4

    [doi:10.3390/ijms23084410]

  • Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA.

    Genetic etiology of non-syndromic hearing loss in Europe.

    HUMAN GENETICS . 141(3-4): 683-696.

    [doi:10.1007/s00439-021-02425-6]

  • Domínguez-Ruiz M, Rodríguez-Ballesteros M, Gandía M, Gómez-Rosas E, Villamar M, Scimemi P, Mancini P, Rendtorff ND, Moreno-Pelayo MA, Tranebjaerg L, Medà C, Santarelli R, Del Castillo I.

    Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

    GENES . 13(1): . Nº de citas: 6

    [doi:10.3390/genes13010149]

  • Santarelli R, Scimemi P, La Morgia C, Cama E, Del Castillo I, Carelli V.

    Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene

    Audiology Research . 11(4): 639-652.

    [doi:10.3390/audiolres11040059]

  • Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA, ClinGen Hearing Loss Clinical Domain Working Group.

    Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

    GENETICS IN MEDICINE . 23(11): 2208-2212. Nº de citas: 15

    [doi:10.1038/s41436-021-01254-2]

  • Blanco-Kelly F, Tarilonte M, Villamar M, Damián A, Tamayo A, Moreno-Pelayo MA, Ayuso C, Cortón M.

    Genetics and epidemiology of aniridia: Updated guidelines for genetic study.

    Archivos De La Sociedad Espanola De Oftalmologia . 96 Suppl 1: 4-14.

    [doi:10.1016/j.oftale.2021.02.002]

  • Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J, Artuch R.

    The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.

    GENES . 12(10): . Nº de citas: 6

    [doi:10.3390/genes12101590]

  • Cervera ST, Rodríguez-Martín C, Fernández-Tabanera E, Melero-Fernández de Mera RM, Morin M, Fernández-Peñalver S, Iranzo-Martínez M, Amhih-Cardenas J, García-García L, González-González L, Moreno-Pelayo MA, Alonso J.

    Therapeutic Potential of EWSR1-FLI1 Inactivation by CRISPR/Cas9 in Ewing Sarcoma

    Cancers . 13(15): . Nº de citas: 8

    [doi:10.3390/cancers13153783]

  • Santarelli, Rosamaria, Scimemi, Pietro, Costantini, Marco, Dominguez-Ruiz, Maria, Rodriguez-Ballesteros, Montserrat, Del Castillo, Ignacio.

    Cochlear Synaptopathy due to Mutations in otof Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception.

    EAR AND HEARING . 42(6): 1627-1639. Nº de citas: 1

    [doi:10.1097/AUD.0000000000001052]

  • Lachgar, Maria, Morin, Matias, Villamar, Manuela, del Castillo, Ignacio, Moreno-Pelayo, Miguel Angel.

    A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family

    GENES . 12(3): . Nº de citas: 5

    [doi:10.3390/genes12030411]

  • Piris-Villaespesa, Miguel, Alvarez-Larran, Alberto, Saez-Marin, Adolfo, Nuñez-Torrón C, Muñoz-Martin G, Sanchez, Ricardo, del Castillo, Francisco J., Villarrubia, Jesus, Lopez-Jimenez, Javier, Martinez-Lopez, Joaquin, Garcia-Gutierrez, Valentin.

    Development and validation of a sequential two-step algorithm for the screening of individuals with potential polycythaemia vera

    SCIENTIFIC REPORTS . 11(1): 209-209. Nº de citas: 2

    [doi:10.1038/s41598-020-80459-y]

  • Pena-Chilet M, Roldan G, Perez-Florido J, Ortuno FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, Garcia-Garcia F, Gonzalez-Neira A, Pita G, Nunez-Torres R, Santoyo-Lopez J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MA, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antinolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B, Carracedo A, Alonso A, Dopazo J, Spanish Exome Crowdsourcing Consortium.

    CSVS, a crowdsourcing database of the Spanish population genetic variability

    NUCLEIC ACIDS RESEARCH . 49(D1): 1130-1137. Nº de citas: 27

    [doi:10.1093/nar/gkaa794]

  • Morin, Matias, Borreguero, Lucia, Booth, Kevin T., Lachgar, Maria, Huygen, Patrick, Villamar, Manuela, Mayo, Fernando, Barrio LC, Santos Serrão de Castro L, Morales, Carmelo, del Castillo, Ignacio, Arellano, Beatriz, Telleria, Dolores, Smith RJH, Azaiez, Hela, Moreno Pelayo, M. A..

    Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

    SCIENTIFIC REPORTS . 10(1): 6213-6213. Nº de citas: 11

    [doi:10.1038/s41598-020-63256-5]

  • Morin, Matias, Forst, Anna-Lena, Perez-Torre, Paula, Jimenez-Escrig, Adriano, Barca-Tierno, Veronica, Garcia-Galloway, Eva, Warth, Richard, Lopez-Sendon Moreno, Jose Luis, Moreno-Pelayo MA.

    Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype

    Neurogenetics . 21(2): 135-143. Nº de citas: 9

    [doi:10.1007/s10048-020-00605-6]

  • Fernandez, Almudena, Morin, Matias, Muñoz-Santos D, Josa, Santiago, Montero, Andrea, Rubio-Fernandez, Marcos, Cantero, Marta, Fernandez, Julia, Del Hierro, Maria Jesus, Castrillo, Marta, Moreno-Pelayo, Miguel Angel, Montoliu, Lluis.

    Simple Protocol for Generating and Genotyping Genome-Edited Mice With CRISPR-Cas9 Reagents.

    Current protocols in mouse biology . 10(1): 69-69. Nº de citas: 9

    [doi:10.1002/cpmo.69]

  • Muñoz G, Garcia-Seisdedos, David, Ciubotariu, Crina, Piris-Villaespesa, Miguel, Gandia, Marta, Martin-Moro, Fernando, Gutierrez-Solana, Luis G, Morado, Marta, Lopez-Jimenez, Javier, Sanchez-Herranz, Antonio, Villarrubia, Jesus, Del Castillo, Francisco J.

    Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.

    Jimd Reports . 51(1): 53-61. Nº de citas: 5

    [doi:10.1002/jmd2.12078]

  • Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN, ClinGen Hearing Loss Working Group.

    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

    GENETICS IN MEDICINE . 21(11): 2442-2452. Nº de citas: 28

    [doi:10.1038/s41436-019-0535-9]

  • López-Huertas MR, Morín M, Madrid-Elena N, Gutiérrez C, Jiménez-Tormo L, Santoyo J, Sanz-Rodríguez F, Moreno Pelayo MÁ, Bermejo LG, Moreno S.

    Selective miRNA Modulation Fails to Activate HIV Replication in InVitro Latency Models.

    MOLECULAR THERAPY-NUCLEIC ACIDS . 17: 323-336. Nº de citas: 4

    [doi:10.1016/j.omtn.2019.06.006]