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AAV-mediated rescue of Eps8 expression in vivo restores hair-cell function in a mouse model of recessive deafness

Molecular therapy. Methods & clinical development, 2022-09, Vol.26, p.355-370

2022

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Absence of Neuroplastin-65 Affects Synaptogenesis in Mouse Inner Hair Cells and Causes Profound Hearing Loss

The Journal of neuroscience, 2016-01, Vol.36 (1), p.222-234

2016

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Age‐related changes in the biophysical and morphological characteristics of mouse cochlear outer hair cells

The Journal of physiology, 2020-09, Vol.598 (18), p.3891-3910

2020

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Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

Nature genetics, 2015-09, Vol.47 (9), p.969-978

2015

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BAI1 localizes AMPA receptors at the cochlear afferent post-synaptic density and is essential for hearing

Cell reports (Cambridge), 2024-04, Vol.43 (4), p.114025-114025, Article 114025

2024

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Biophysical and morphological changes in inner hair cells and their efferent innervation in the ageing mouse cochlea

The Journal of physiology, 2021-01, Vol.599 (1), p.269-287

2021

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Can ‘Alternative Providers’ Really Improve Equality of Opportunity for Students Entering Higher Education?

Equality and Differentiation in Marketised Higher Education, 2018, p.95-118

2018

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Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome

The Journal of biological chemistry, 2004-05, Vol.279 (21), p.22624-22634

2004

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CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

EMBO molecular medicine, 2017-12, Vol.9 (12), p.1711-1731

2017

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CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells

Nature communications, 2017-06, Vol.8 (1), p.43-43, Article 43

2017

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Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

EMBO molecular medicine, 2019-09, Vol.11 (9), p.e10288-n/a

2019

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Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair

Genome medicine, 2016-02, Vol.8 (1), p.16-16, Article 16

2016

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Discovering gene function from development to ageing

Reproductive toxicology (Elmsford, N.Y.), 2015-08, Vol.56, p.10-10

2015

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The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Human molecular genetics, 2019-02, Vol.28 (4), p.584-597

2019

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Forward genetics identifies a novel sleep mutant with sleep state inertia and REM sleep deficits

Science advances, 2020-08, Vol.6 (33), p.eabb3567-eabb3567

2020

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Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density

Clinical endocrinology (Oxford), 2006-11, Vol.65 (5), p.598-605

2006

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Genetic landscape of auditory dysfunction

Human molecular genetics, 2018-08, Vol.27 (R2), p.R130-R135

2018

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The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells

Disease models & mechanisms, 2015-12, Vol.8 (12), p.1555-1568

2015

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Handgehaltene optische Kohärenztomografie in pädiatrischer Ophthalmologie: Erfahrung der Gießener Universitätsaugenklinik

Klinische Monatsblätter für Augenheilkunde, 2016-10, Vol.233 (10), p.1142-1148

2016

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Handheld Optical Coherence Tomography in Paediatric Ophthalmology: Experience of the Department of Ophthalmology in Giessen

Klinische Monatsblatter fur Augenheilkunde, 2016-10, Vol.233 (10), p.1142

2016

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Helios is a key transcriptional regulator of outer hair cell maturation

Nature (London), 2018-11, Vol.563 (7733), p.696-700

2018

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Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism

Human molecular genetics, 2010-05, Vol.19 (10), p.2028-2038

2010

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Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Human molecular genetics, 2012-06, Vol.21 (12), p.2768-2778

2012

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Ikzf2/helios is a key transcriptional regulator of outer hair cell maturation

Nature (London), 2018-11, Vol.563 (7733), p.696-700

2018

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An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

The Journal of clinical investigation, 2005-10, Vol.115 (10), p.2822-2831

2005

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AAV-mediated rescue of Eps8 expression in vivo restores hair-cell function in a mouse model of recessive deafness

Absence of Neuroplastin-65 Affects Synaptogenesis in Mouse Inner Hair Cells and Causes Profound Hearing Loss

Age‐related changes in the biophysical and morphological characteristics of mouse cochlear outer hair cells

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

BAI1 localizes AMPA receptors at the cochlear afferent post-synaptic density and is essential for hearing

Biophysical and morphological changes in inner hair cells and their efferent innervation in the ageing mouse cochlea

Can ‘Alternative Providers’ Really Improve Equality of Opportunity for Students Entering Higher Education?

Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells

Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair

Discovering gene function from development to ageing

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Forward genetics identifies a novel sleep mutant with sleep state inertia and REM sleep deficits

Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density

Genetic landscape of auditory dysfunction

The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells

Handgehaltene optische Kohärenztomografie in pädiatrischer Ophthalmologie: Erfahrung der Gießener Universitätsaugenklinik

Handheld Optical Coherence Tomography in Paediatric Ophthalmology: Experience of the Department of Ophthalmology in Giessen

Helios is a key transcriptional regulator of outer hair cell maturation

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Ikzf2/helios is a key transcriptional regulator of outer hair cell maturation

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

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