| Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss A Mencia, S Modamio-Høybjør, N Redshaw, M Morin, F Mayo-Merino, ... Nature genetics 41 (5), 609-613, 2009 | 670 | 2009 |
| DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss MS Hildebrand, M Morín, NC Meyer, F Mayo, S Modamio‐Hoybjor, ... Human mutation 32 (7), 825-834, 2011 | 102 | 2011 |
| In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment M Morín, KE Bryan, F Mayo-Merino, R Goodyear, Á Mencía, ... Human molecular genetics 18 (16), 3075-3089, 2009 | 85 | 2009 |
| Allelic mutations of KITLG, encoding KIT ligand, cause asymmetric and unilateral hearing loss and Waardenburg syndrome type 2 CZ Seco, LS de Castro, JW Van Nierop, M Morín, S Jhangiani, EJJ Verver, ... The American Journal of Human Genetics 97 (5), 647-660, 2015 | 77 | 2015 |
| CSVS, a crowdsourcing database of the Spanish population genetic variability M Peña-Chilet, G Roldán, J Perez-Florido, FM Ortuno, R Carmona, ... Nucleic acids research 49 (D1), D1130-D1137, 2021 | 60 | 2021 |
| Genetic etiology of non-syndromic hearing loss in Europe I Del Castillo, M Morín, M Domínguez-Ruiz, MA Moreno-Pelayo Human Genetics 141 (3), 683-696, 2022 | 57 | 2022 |
| Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane PK Legan, RJ Goodyear, M Morín, A Mencia, H Pollard, L Olavarrieta, ... Human molecular genetics 23 (10), 2551-2568, 2014 | 57 | 2014 |
| Proteomic analysis reveals metabolic changes during yeast to hypha transition in Yarrowia lipolytica M Morín, L Monteoliva, M Insenser, C Gil, Á Domínguez Journal of mass spectrometry 42 (11), 1453-1462, 2007 | 48 | 2007 |
| Proteome profile changes during mouse testis development M Paz, M Morín, J Del Mazo Comparative biochemistry and physiology Part D: Genomics and proteomics 1 (4 …, 2006 | 45 | 2006 |
| Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia M Tarilonte, M Morín, P Ramos, M Galdós, F Blanco-Kelly, C Villaverde, ... Frontiers in genetics 9, 479, 2018 | 28 | 2018 |
| Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247 AV Marin, A Jiménez-Reinoso, AC Briones, M Muñoz-Ruiz, C Aydogmus, ... Journal of Allergy and Clinical Immunology 139 (1), 347-349. e8, 2017 | 27 | 2017 |
| A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV M Morín, A Viñuela, T Rivera, M Villamar, MA Moreno‐Pelayo, F Moreno, ... American Journal of Medical Genetics Part A 146 (8), 1032-1037, 2008 | 25 | 2008 |
| Evolution of CRISPR-associated endonucleases as inferred from resurrected proteins B Alonso-Lerma, Y Jabalera, S Samperio, M Morin, A Fernandez, LT Hille, ... Nature microbiology 8 (1), 77-90, 2023 | 22 | 2023 |
| Therapeutic Potential of EWSR1–FLI1 Inactivation by CRISPR/Cas9 in Ewing Sarcoma ST Cervera, C Rodríguez-Martín, E Fernández-Tabanera, ... Cancers 13 (15), 3783, 2021 | 22 | 2021 |
| Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants M Morín, L Borreguero, KT Booth, M Lachgar, P Huygen, M Villamar, ... Scientific reports 10 (1), 6213, 2020 | 22 | 2020 |
| Simple protocol for generating and genotyping genome‐edited mice with CRISPR‐Cas9 reagents A Fernández, M Morín, D Muñoz‐Santos, S Josa, A Montero, ... Current Protocols in Mouse Biology 10 (1), e69, 2020 | 21 | 2020 |
| Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV A Viñuela, M Morín, M Villamar, C Morera, MJ Lavilla, L Cavallé, ... American Journal of Medical Genetics Part A 149 (10), 2296-2302, 2009 | 21 | 2009 |
| CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts A López-Márquez, M Morín, S Fernández-Peñalver, C Badosa, ... International Journal of Molecular Sciences 23 (8), 4410, 2022 | 18 | 2022 |
| Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype M Morin, AL Forst, P Pérez-Torre, A Jiménez-Escrig, V Barca-Tierno, ... neurogenetics 21, 135-143, 2020 | 16 | 2020 |
| CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative J Luque, I Mendes, B Gomez, B Morte, M López de Heredia, E Herreras, ... Clinical genetics 101 (5-6), 481-493, 2022 | 14 | 2022 |