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Gene Expression by Mouse Inner Ear Hair Cells during Development

The Journal of neuroscience, 2015-04, Vol.35 (16), p.6366-6380

2015

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SHIELD: an integrative gene expression database for inner ear research

Database : the journal of biological databases and curation, 2015, Vol.2015, p.bav071-bav071

2015

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XIRP2, an Actin-Binding Protein Essential for Inner Ear Hair-Cell Stereocilia

Cell reports (Cambridge), 2015-03, Vol.10 (11), p.1811-1818

2015

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PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss

Scientific reports, 2015-12, Vol.5 (1), p.18568-18568, Article 18568

2015

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Rescue of Hearing by Gene Delivery to Inner-Ear Hair Cells Using Exosome-Associated AAV

Molecular therapy, 2017-02, Vol.25 (2), p.379-391

2017

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Renewed proliferation in adult mouse cochlea and regeneration of hair cells

Nature communications, 2019-12, Vol.10 (1), p.5530-15, Article 5530

2019

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Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss

Human molecular genetics, 2015-10, Vol.24 (19), p.5655-5664

2015

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Hair cell overexpression of Islet1 reduces age-related and noise-induced hearing loss

The Journal of neuroscience, 2013-09, Vol.33 (38), p.15086-15094

2013

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Null Leukemia Inhibitory Factor Receptor ( LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

American journal of human genetics, 2004-02, Vol.74 (2), p.298-305

2004

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Mass spectrometry quantitation of proteins from small pools of developing auditory and vestibular cells

Scientific data, 2018-07, Vol.5 (1), p.180128-180128, Article 180128

2018

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Exosome-associated AAV vector as a robust and convenient neuroscience tool

Gene therapy, 2016-04, Vol.23 (4), p.380-392

2016

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Gene expression profiling identifies Hes6 as a transcriptional target of ATOH1 in cochlear hair cells

FEBS letters, 2007-10, Vol.581 (24), p.4651-4656

2007

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16. Exosome-Associated AAV as a Novel Platform for Gene Therapy of Hearing Loss

Molecular therapy, 2015-05, Vol.23, p.S7-S7

2015

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Clinical and genetic heterogeneity in Desbuquois dysplasia

American journal of medical genetics. Part A, 2004-07, Vol.128A (1), p.29-32

2004

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The α1 subunit of nicotinic acetylcholine receptors in the inner ear: transcriptional regulation by ATOH1 and co‐expression with the γ subunit in hair cells

Journal of neurochemistry, 2007-12, Vol.103 (6), p.2651-2664

2007

Volltextzugriff (PDF)

Clinical and genetic heterogeneity in Desbuquois dysplasia

American journal of medical genetics, 2004, Vol.128A (1), p.29-32

2004

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Acute and Chronic Ophthalmic Involvement in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis – A Comprehensive Review and Guide to Therapy. II. Ophthalmic Disease

The ocular surface, 2016-04, Vol.14 (2), p.168-188

2016

Volltextzugriff (PDF)

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis – A Comprehensive Review and Guide to Therapy. I. Systemic Disease

The ocular surface, 2016, Vol.14 (1), p.2-19

2016

Volltextzugriff (PDF)

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Nature communications, 2015-09, Vol.6 (1), p.8038-8038, Article 8038

2015

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Somatic Mutations in Cerebral Cortical Malformations

The New England journal of medicine, 2014-08, Vol.371 (8), p.733-743

2014

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SCN2A Mutations and Benign Familial Neonatal‐Infantile Seizures: The Phenotypic Spectrum

Epilepsia (Copenhagen), 2007-06, Vol.48 (6), p.1138-1142

2007

Volltextzugriff (PDF)

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

American journal of human genetics, 2023-03, Vol.110 (3), p.419-426

2023

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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Nature communications, 2019-10, Vol.10 (1), p.4679-17, Article 4679

2019

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Gene Expression by Mouse Inner Ear Hair Cells during Development

SHIELD: an integrative gene expression database for inner ear research

XIRP2, an Actin-Binding Protein Essential for Inner Ear Hair-Cell Stereocilia

PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss

Rescue of Hearing by Gene Delivery to Inner-Ear Hair Cells Using Exosome-Associated AAV

Renewed proliferation in adult mouse cochlea and regeneration of hair cells

Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss

Hair cell overexpression of Islet1 reduces age-related and noise-induced hearing loss

Null Leukemia Inhibitory Factor Receptor ( LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Mass spectrometry quantitation of proteins from small pools of developing auditory and vestibular cells

Exosome-associated AAV vector as a robust and convenient neuroscience tool

Gene expression profiling identifies Hes6 as a transcriptional target of ATOH1 in cochlear hair cells

16. Exosome-Associated AAV as a Novel Platform for Gene Therapy of Hearing Loss

Clinical and genetic heterogeneity in Desbuquois dysplasia

The α1 subunit of nicotinic acetylcholine receptors in the inner ear: transcriptional regulation by ATOH1 and co‐expression with the γ subunit in hair cells

Clinical and genetic heterogeneity in Desbuquois dysplasia

Acute and Chronic Ophthalmic Involvement in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis – A Comprehensive Review and Guide to Therapy. II. Ophthalmic Disease

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis – A Comprehensive Review and Guide to Therapy. I. Systemic Disease

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Somatic Mutations in Cerebral Cortical Malformations

SCN2A Mutations and Benign Familial Neonatal‐Infantile Seizures: The Phenotypic Spectrum

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study

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