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Genetics and sensorineural pathophysiology

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  • Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, Jain SP, Chioza BA, Walz K, Steel KP, Nasir J, Tekin M.

    Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA . 119(26): . Number of citations: 4

    [doi:10.1073/pnas.2204084119]

  • 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): . Number of citations: 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): . Number of citations: 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. Number of citations: 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): . Number of citations: 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): . Number of citations: 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. Number of citations: 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): . Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 28

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