List of works - Matías Morín

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

scientific article published in 2021

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

article

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

CSVS, a crowdsourcing database of the Spanish population genetic variability

scientific article published on 29 September 2020

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

scientific article published on 7 June 2011

Expression of Alt a 1 allergen from Alternaria alternata in the yeast Yarrowia lipolytica

scientific article published on 18 June 2012

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

scientific article published on 01 October 2009

Genetic etiology of non-syndromic hearing loss in Europe

scientific article published in 2022

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

scientific article

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

scientific article published on 10 April 2020

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

scientific article

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

scientific article published on 15 February 2020

Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

article

Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247.

scientific article published on 20 August 2016

Proteome profile changes during mouse testis development

scientific article published on 18 October 2006

Proteomic analysis reveals metabolic changes during yeast to hypha transition in Yarrowia lipolytica.

scientific article

Selective miRNA Modulation Fails to Activate HIV Replication in In Vitro Latency Models

scientific article published on 20 June 2019

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

scientific article published on 01 March 2020

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

scientific article published on 12 July 2019

Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane

scientific article

List of works by Matías Morín

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

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

CSVS, a crowdsourcing database of the Spanish population genetic variability

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Expression of Alt a 1 allergen from Alternaria alternata in the yeast Yarrowia lipolytica

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

Genetic etiology of non-syndromic hearing loss in Europe

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

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

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

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

Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247.

Proteome profile changes during mouse testis development

Proteomic analysis reveals metabolic changes during yeast to hypha transition in Yarrowia lipolytica.

Selective miRNA Modulation Fails to Activate HIV Replication in In Vitro Latency Models

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

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane