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Whole genome sequencing for newborns—The devil is in the details

Clinical and translational discovery, 2022-09, Vol.2 (3), p.n/a

Vona, Barbara

2022

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Catching up but still miles behind—a patient registry for otoferlin

Experimental & molecular medicine, 2024-06, Vol.56 (6), p.1472-1473

2024

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The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment

Genes, 2020-11, Vol.11 (12), p.1411

2020

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Rethinking non-syndromic hearing loss and its mimics in the genomic era

European journal of human genetics : EJHG, 2024-03

Vona, Barbara

2024

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Gene therapy for deafness: are we there now?

EMBO molecular medicine, 2024-04, Vol.16 (4), p.675-677

2024

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An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey

European journal of human genetics : EJHG, 2023-04, Vol.31 (4), p.375-376

Vona, Barbara

2023

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Is there an unmet medical need for improved hearing restoration?

EMBO molecular medicine, 2022-08, Vol.14 (8), p.e15798-n/a

2022

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Genetics of Tinnitus: Still in its Infancy

Frontiers in neuroscience, 2017-05, Vol.11, p.236-236

2017

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FGFR1 variants contributed to families with tooth agenesis

Human genomics, 2023-10, Vol.17 (1), p.1-10, Article 93

2023

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Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case

International journal of molecular sciences, 2022-09, Vol.23 (18), p.10673

2022

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

eLife, 2020-02, Vol.9

2020

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Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D -Related Disorder

International journal of molecular sciences, 2023-01, Vol.24 (3), p.1874

2023

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Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Nature communications, 2024-03, Vol.15 (1), p.2269-2269, Article 2269

2024

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METTL3-dependent m6A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway

Cell death & disease, 2024-03, Vol.15 (3), p.229-229, Article 229

2024

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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Brain (London, England : 1878), 2022-07, Vol.145 (7), p.2301-2312

2022

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

Ear and hearing, 2019-03, Vol.40 (2), p.219-226

2019

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

Genetics in medicine, 2014-12, Vol.16 (12), p.945-953

2014

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Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.97-97, Article 97

2022

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Heritability and Tinnitus

JAMA otolaryngology-- head & neck surgery, 2019-03, Vol.145 (3), p.229

Vona, Barbara

2019

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

Epilepsia (Copenhagen), 2021-02, Vol.62 (2), p.e35-e41

2021

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

Human genomics, 2024-03, Vol.18 (1), p.23-13, Article 23

2024

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

Molecular diagnosis & therapy, 2022-03, Vol.26 (2), p.129-136

Vona, Barbara

2022

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Unraveling haplotype errors in the DFNA33 locus

Frontiers in genetics, 2023-08, Vol.14, p.1214736-1214736

2023

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mRNA Abundance of Neurogenic Factors Correlates with Hearing Capacity in Auditory Brainstem Nuclei of the Rat

Life (Basel, Switzerland), 2023-09, Vol.13 (9), p.1858

2023

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Whole genome sequencing for newborns—The devil is in the details

Catching up but still miles behind—a patient registry for otoferlin

The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment

Rethinking non-syndromic hearing loss and its mimics in the genomic era

Gene therapy for deafness: are we there now?

An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey

Is there an unmet medical need for improved hearing restoration?

Genetics of Tinnitus: Still in its Infancy

FGFR1 variants contributed to families with tooth agenesis

Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case

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

Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D -Related Disorder

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

METTL3-dependent m6A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

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

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

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Heritability and Tinnitus

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

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

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

Unraveling haplotype errors in the DFNA33 locus

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

mRNA Abundance of Neurogenic Factors Correlates with Hearing Capacity in Auditory Brainstem Nuclei of the Rat

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