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Matias Morin
Matias Morin
HOSPITAL RAMON Y CAJAL
Verified email at salud.madrid.org
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Cited by
Cited by
Year
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
6552009
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
912011
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
812009
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
732015
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
562014
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
492007
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
462006
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
442021
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
322022
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
252008
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
242017
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
232018
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
192020
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
192020
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
192009
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
172021
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
142023
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
142020
The lipase system of Yarrowia lipolytica
A Choupina, FJ Gonzalez, M Morin, FJ Burguillo, E Ferminan, ...
Current Genetics 35 (3-4), 297-297, 1999
141999
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
112022
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Articles 1–20