List of works - Barbara Vona

A Big Data Perspective on the Genomics of Hearing Loss

scientific article published on 01 March 2019

A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment

scientific article published on 3 September 2015

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

scientific article published in 2021

A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family

scientific article published on 10 June 2020

Aberrant COL11A1 splicing causes prelingual autosomal dominant non-syndromic hearing loss in the DFNA37 locus

scientific article published on 10 November 2020

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

scientific article published on 26 February 2020

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

scientific article

Confirmation of GRHL2 as the gene for the DFNA28 locus.

scientific article

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene

scientific article published on 4 February 2016

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

scientific article

Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss.

scientific article published on 04 October 2013

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.

scientific article published on 22 September 2017

Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss

scientific article published on 14 July 2019

Expanding the clinical phenotype of IARS2-related mitochondrial disease

scientific article published on 12 November 2018

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy

scientific article published on 07 January 2021

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

scientific article published on 11 November 2020

Genetics of Tinnitus: Still in its Infancy.

scientific article

Hereditary hearing loss SNP-microarray pilot study.

scientific article

Heritability and Tinnitus

scientific article published on 01 March 2019

Is there an unmet medical need for improved hearing restoration?

scientific article published in 2022

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

article

Non-syndromic hearing loss gene identification: A brief history and glimpse into the future

scientific article published on 03 April 2015

Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

scientific article published on 02 January 2020

Phenotypic Characterization of DFNB16-associated Hearing Loss

scientific article published on 01 January 2019

Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus Research

scientific article published on 01 March 2019

Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss

scientific article published on 06 February 2020

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

scientific article

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.

scientific article

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

scientific article published on 5 January 2018

The Many Faces of DFNB9: Relating <i>OTOF</i> Variants to Hearing Impairment

scientific article published on 26 November 2020

The Road Traveled and Journey Ahead for the Genetics and Genomics of Tinnitus

scientific article published in 2022

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.

scientific article published on 18 May 2018

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.

scientific article published on 7 June 2019

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

scientific article published in 2024

List of works by Barbara Vona

A Big Data Perspective on the Genomics of Hearing Loss

A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family

Aberrant COL11A1 splicing causes prelingual autosomal dominant non-syndromic hearing loss in the DFNA37 locus

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

Confirmation of GRHL2 as the gene for the DFNA28 locus.

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene

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

Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss.

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.

Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

Genetics of Tinnitus: Still in its Infancy.

Hereditary hearing loss SNP-microarray pilot study.

Heritability and Tinnitus

Is there an unmet medical need for improved hearing restoration?

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Non-syndromic hearing loss gene identification: A brief history and glimpse into the future

Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

Phenotypic Characterization of DFNB16-associated Hearing Loss

Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus Research

Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

The Many Faces of DFNB9: Relating <i>OTOF</i> Variants to Hearing Impairment

The Road Traveled and Journey Ahead for the Genetics and Genomics of Tinnitus

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome