Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report

(2018) Cha Gon Lee et al.   Molecular Medicine Reports

A novel de novo mutation of ACTG1 in two sporadic non-syndromic hearing loss cases

(2018) Hongyang Wang et al.   Science China-Life Sciences

A Strategy to Enhance Secretion of Extracellular Matrix Components by Stem Cells: Relevance to Tissue Engineering

(2018) Navaneethakrishnan Krishnamoorthy et al.   TISSUE ENGINEERING PART A

A novel TECTA mutation causes ARNSHL

(2017) Samira Asgharzade et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic

(2017) Pavlina Plevova et al.   OTOLOGY & NEUROTOLOGY

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

(2017) Zhijie Niu et al.   PLoS One

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

(2017) Urszula Lechowicz et al.   Scientific Reports

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

(2016) Christina M. Sloan-Heggen et al.   HUMAN GENETICS

Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution

(2016) Julian von der Ecken et al.   NATURE

PDZD7and hearing loss: More than just a modifier

(2015) Kevin T. Booth et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Gene Expression Profiles of the Cochlea and Vestibular Endorgans

(2015) Shin-ya Nishio et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

Genetic hearing impairment

(2015) Jovana Ječmenica et al.   CHILDS NERVOUS SYSTEM

TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss

(2015) Saba Battelino et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

(2015) Christina M Sloan-Heggen et al.   JOURNAL OF MEDICAL GENETICS

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss

(2015) A. Eliot Shearer et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Genetic investigations in childhood deafness

(2014) Michael Parker et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

(2014) Jia-Chi Wang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients

(2014) D. Vozzi et al.   GENE

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

(2014)   GENETICS IN MEDICINE

Distribution and phenotype ofGJB2mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss

(2014) Pietro Salvago et al.   INTERNATIONAL JOURNAL OF AUDIOLOGY

Non-syndromic hereditary sensorineural hearing loss: review of the genes involved

(2014) F Stelma et al.   JOURNAL OF LARYNGOLOGY AND OTOLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA

(2014) Byung Yoon Choi et al.   PLoS One

DFNB16 is a frequent cause of congenital hearing impairment: implementation ofSTRCmutation analysis in routine diagnostics

(2013) B. Vona et al.   CLINICAL GENETICS

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3

(2013) Nicole Hoppman et al.   Molecular Cytogenetics

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

(2012) Isabelle Schrauwen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Structure of the Rigor Actin-Tropomyosin-Myosin Complex

(2012) Elmar Behrmann et al.   CELL

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

(2012) Oscar Diaz-Horta et al.   PLoS One

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

(2011) Lauren J. Francey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family

(2011) N.J.D. Weegerink et al.   HEARING RESEARCH

Deafness in the genomics era

(2011) A. Eliot Shearer et al.   HEARING RESEARCH

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

(2011) Michael S. Hildebrand et al.   HUMAN MUTATION

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

(2011) Zippora Brownstein et al.   GENOME BIOLOGY

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Hearing Loss: Mechanisms Revealed by Genetics and Cell Biology

(2009) Amiel A. Dror et al.   Annual Review of Genetics

Analysis of the GJB2 and GJB6 Genes in Italian Patients with Nonsyndromic Hearing Loss: Frequencies, Novel Mutations, Genotypes, and Degree of Hearing Loss

(2009) Paola Primignani et al.   Genetic Testing and Molecular Biomarkers

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort

(2009) Elona Cama et al.   INTERNATIONAL JOURNAL OF AUDIOLOGY

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

GROMACS 4:  Algorithms for Highly Efficient, Load-Balanced, and Scalable Molecular Simulation

(2008) Berk Hess et al.   Journal of Chemical Theory and Computation