Research graph
References from Comorbid Auditory and Visual Dysfunction: From Pathogenic Genes to Gene Therapy. Local targets link to admitted publications; unresolved targets remain external evidence.
Unresolved reference
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10.1371/journal.pgph.0001905
10.1371/journal.pgph.0001905 · External reference
Is it usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss
10.1080/13816810.2020.1747088 · 2020 · External reference
Usher syndrome
10.3390/audiolres12010005 · 2022 · External reference
Dual sensory loss in older adults: A systematic review
10.1093/geront/gnv074 · 2015 · External reference
10.3389/fpsyg.2020.571358
10.3389/fpsyg.2020.571358 · External reference
Unresolved reference
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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal
10.1186/s13023-025-03542-5 · 2025 · External reference
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
10.1007/s00439-021-02303-1 · 2021 · External reference
10.1186/s12859-020-3421-1
10.1186/s12859-020-3421-1 · External reference
Hiding in plain sight: Genetic deaf-blindness is not always Usher syndrome
10.1101/mcs.a006088 · 2021 · External reference
Progressive cone dystrophy and sensorineural hearing loss
2004 · External reference
Unresolved reference
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Unravelling the genetics of inherited retinal dystrophies: Past, present and future
10.1016/j.preteyeres.2017.03.003 · 2017 · External reference
Unresolved reference
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An Update on the Genetics of Usher Syndrome
2010 · External reference
The genetic and phenotypic landscapes of usher syndrome: From disease mechanisms to a new classification
10.1007/s00439-022-02448-7 · 2022 · External reference
Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the united kingdom
10.1016/j.ophtha.2020.04.008 · 2020 · External reference
Usher protein functions in hair cells and photoreceptors
10.1016/j.biocel.2013.11.001 · 2014 · External reference
Hair-bundle links: Genetics as the gateway to function
10.1101/cshperspect.a033142 · 2019 · External reference
Genetic analysis of Tunisian families with Usher syndrome type 1: Toward improving early molecular diagnosis
2016 · External reference
10.3390/genes16030332
10.3390/genes16030332 · External reference
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities
10.1016/j.bbadis.2014.11.020 · 2015 · External reference
Interactions in the network of Usher syndrome type 1 proteins
10.1093/hmg/ddi031 · 2005 · External reference
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
10.1186/1750-1172-6-21 · 2011 · External reference
Myosin VIIa Participates in Opsin Transport through the Photoreceptor Cilium
10.1523/jneurosci.19-15-06267.1999 · 1999 · External reference
The molecular genetics of Usher syndrome
10.1034/j.1399-0004.2003.00109.x · 2003 · External reference
Outcomes of cochlear implantation in usher syndrome: A systematic review
10.1007/s00405-023-08304-2 · 2023 · External reference
Long-term outcomes of cochlear implantation in usher syndrome
10.1097/aud.0000000000001544 · 2024 · External reference
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
10.1038/s41436-019-0487-0 · 2019 · External reference
Differential distribution of harmonin isoforms and their possible role in usher-1 protein complexes in mammalian photoreceptor cells
10.1167/iovs.03-0483 · 2003 · External reference
Variants in CIB2 cause DFNB48 and not USH1J
10.1111/cge.13170 · 2017 · External reference
Review of genotype-phenotype correlations in usher syndrome
2021 · External reference
Genetics, pathogenesis and therapeutic developments for usher syndrome type 2
10.1007/s00439-021-02324-w · 2021 · External reference
10.3390/ijms25189993
10.3390/ijms25189993 · External reference
Characterization of usher syndrome type 2-associated proteins in the retina via affinity purification-mass spectrometry
10.1016/j.mcpro.2026.101526 · 2026 · External reference
USH2A-retinopathy: From genetics to therapeutics
10.1016/j.exer.2020.108330 · 2020 · External reference
10.3390/genes13081423
10.3390/genes13081423 · External reference
Compensatory interplay between clarin-1 and clarin-2 deafness-associated proteins governs phenotypic variability in hearing
10.1002/advs.202521853 · 2026 · External reference
Clarin-1 expression in adult mouse and human retina highlights a role of Müller glia in usher syndrome
10.1002/path.5360 · 2019 · External reference
A novel ABHD12 nonsense variant in usher syndrome type 3 family with genotype-phenotype spectrum review
10.1016/j.gene.2019.04.008 · 2019 · External reference
Atypical and ultra-rare usher syndrome: A review
10.1080/13816810.2020.1747090 · 2020 · External reference
Prevalence of molecular diagnoses for usher syndrome and the need for coordinated care
10.1002/lary.31911 · 2024 · External reference
Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6
10.1016/j.ajhg.2015.08.011 · 2015 · External reference
10.3390/genes17040360
10.3390/genes17040360 · External reference
10.3390/genes12050646
10.3390/genes12050646 · External reference
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Expanding the clinical and genetic spectrum of Heimler syndrome
10.1186/s13023-019-1243-x · 2019 · External reference
10.3390/cells11132067
10.3390/cells11132067 · External reference
10.3390/ijms22084101
10.3390/ijms22084101 · External reference
The Peroxisomal Disorder Spectrum and Heimler Syndrome: Deep Phenotyping and Review of the Literature
10.1002/ajmg.c.31823 · 2020 · External reference
Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene
10.1016/j.ejmg.2016.09.004 · 2016 · External reference
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations
10.1080/13816810.2018.1432063 · 2018 · External reference
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Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome
10.1016/j.ajoc.2023.101798 · 2023 · External reference
Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family
2018 · External reference
Mutations in the NDP gene: Contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity
10.1111/j.1442-9071.2006.01314.x · 2006 · External reference
Clinical and genetic analysis of Indian patients with NDP-related retinopathies
10.1007/s10792-017-0589-0 · 2017 · External reference
5′ UTR variant in the NDP gene leads to incorrect splicing and familial exudative vitreoretinopathy
10.1186/s13023-025-03724-1 · 2025 · External reference
Vascular Development in the Retina and Inner Ear: Control by norrin and frizzled-4, a high-affinity ligand-receptor pair
10.1016/s0092-8674(04)00216-8 · 2004 · External reference
Norrin, Frizzled-4, and Lrp5 Signaling in Endothelial Cells Controls a Genetic Program for Retinal Vascularization
10.1016/j.cell.2009.07.047 · 2009 · External reference
Norrie Disease and Exudative Vitreoretinopathy in Families with Affected Female Carriers
10.1177/112067219900900312 · 1999 · External reference
Early Vitrectomy Effective for Norrie Disease
10.1001/archophthalmol.2009.403 · 2010 · External reference
Twenty years of audiology in a patient with Norrie disease
10.1016/j.ijporl.2008.08.007 · 2008 · External reference
Unresolved reference
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The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention
2022 · External reference
Norrie Disease: Extraocular Clinical Manifestations in 56 Patients
10.1002/ajmg.a.35469 · 2012 · External reference
10.3390/genes13091571
10.3390/genes13091571 · External reference
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: A case report and review of the literature
10.1186/s13256-017-1396-y · 2017 · External reference
Stickler syndrome caused by COL2A1 mutations: Genotype–phenotype correlation in a series of 100 patients
10.1038/ejhg.2010.23 · 2010 · External reference
The Epidemiology of Deafness
10.1101/cshperspect.a033258 · 2018 · External reference
Exome sequencing-aided precise diagnosis of four families with type I Stickler syndrome
10.1002/mgg3.2331 · 2023 · External reference
10.3390/jpm10030105
10.3390/jpm10030105 · External reference
Stickler syndrome: Case report
2022 · External reference
Hearing impairment in Stickler syndrome: A systematic review
10.1186/1750-1172-7-84 · 2012 · External reference
Clinical and molecular genetics of Stickler syndrome
10.1136/jmg.36.5.353 · 1999 · External reference
A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome
10.1038/hgv.2015.43 · 2015 · External reference
10.3389/fgene.2025.1642604
10.3389/fgene.2025.1642604 · External reference
Autosomal Dominant and Recessive Osteochondrodysplasias Associated with the COL11A2 Locus
10.1016/0092-8674(95)90493-x · 1995 · External reference
A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene
10.1086/506478 · 2006 · External reference
10.3390/ijms22136723
10.3390/ijms22136723 · External reference
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
10.1038/79171 · 2000 · External reference
Harmonin mutations cause mechanotransduction defects in cochlear hair cells
10.1016/j.neuron.2009.04.006 · 2009 · External reference
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
10.1093/hmg/ddg051 · 2003 · External reference
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia
10.1073/pnas.1017114108 · 2011 · External reference
Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina
10.1016/j.bbamcr.2011.05.015 · 2011 · External reference
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
10.1093/hmg/10.16.1709 · 2001 · External reference
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
10.1093/hmg/ddg358 · 2003 · External reference
Gene structure and mutant alleles of PCDH15: Nonsyndromic deafness DFNB23 and type 1 Usher syndrome
10.1007/s00439-008-0543-3 · 2008 · External reference
Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain
10.1242/dev.060061 · 2011 · External reference
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
10.1038/83667 · 2001 · External reference
Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
10.1038/s41439-019-0037-y · 2019 · External reference
Identification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss
10.1007/s13258-024-01611-w · 2025 · External reference
Cadherin 23 is a component of the tip link in hair-cell stereocilia
10.1038/nature02483 · 2004 · External reference
Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells
10.1038/nature06091 · 2007 · External reference
Retinal cadherins and the retinal cadherinopathies: Current concepts and future directions
10.1016/j.preteyeres.2021.101038 · 2022 · External reference
Mutation of a gene encoding a protein with extracellular matrix motifs in usher syndrome type IIa
10.1126/science.280.5370.1753 · 1998 · External reference
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
10.1016/j.xhgg.2023.100229 · 2023 · External reference
Identification of 51 novel exons of the usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with usher syndrome type II
10.1086/383096 · 2004 · External reference
Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning
10.1523/jneurosci.0342-07.2007 · 2007 · External reference
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
10.1038/ng1208 · 2003 · External reference
A novel gene for usher syndrome type 2 (USH2D): Mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
2007 · External reference
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly
10.1093/hmg/ddi036 · 2004 · External reference
Pleiotropic brain function of whirlin identified by a novel mutation
10.1016/j.isci.2024.110170 · 2024 · External reference
10.5772/32663
10.5772/32663 · External reference
Adhesion G protein-coupled receptors as drug targets for neurological diseases
10.1016/j.tips.2019.02.003 · 2019 · External reference
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10.3389/fcell.2023.1199069
10.3389/fcell.2023.1199069 · External reference
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of usher syndrome type II
10.1086/381685 · 2004 · External reference
Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree
10.1016/j.gene.2019.05.045 · 2019 · External reference
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
10.1172/jci39715 · 2010 · External reference
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism
10.1093/hmg/ddn140 · 2008 · External reference
Myosin VII, USH1C, and ANKS4B or USH1G together form condensed molecular assembly via liquid-liquid phase separation
10.1016/j.celrep.2019.09.027 · 2019 · External reference
The Many Different Cellular Functions of MYO7A in the Retina
10.1042/bst0391207 · 2011 · External reference
Sensing sound: Molecules that orchestrate mechanotransduction by hair cells
10.1016/j.tins.2011.10.007 · 2012 · External reference
Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells
10.1523/jneurosci.4251-05.2006 · 2006 · External reference
Human myosin VIIa is a very slow processive motor protein on various cellular actin structures
10.1074/jbc.m116.765966 · 2017 · External reference
The shaker-1 mouse myosin VIIa deafness mutation results in a severely reduced rate of the ATP hydrolysis step
10.1074/jbc.m117.810119 · 2018 · External reference
Human myosin VIIA responsible for the Usher 1B syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia
10.1073/pnas.93.8.3232 · 1996 · External reference
Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes
10.1242/jcs.01580 · 2004 · External reference
Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein
10.1073/pnas.1130432100 · 2003 · External reference
Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene
10.1016/j.sjopt.2017.10.004 · 2018 · External reference
Outer retinal changes including the ellipsoid zone band in usher syndrome 1B due to MYO7A mutations
10.1167/iovs.15-18860 · 2016 · External reference
Unresolved reference
External reference
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
10.1038/sj.ejhg.5200831 · 2002 · External reference
The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by usher syndrome III causative gene
10.1523/jneurosci.0311-12.2012 · 2012 · External reference
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane
2009 · External reference
Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome
10.1172/jci94351 · 2018 · External reference
10.1371/journal.pgen.1011205
10.1371/journal.pgen.1011205 · External reference
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
10.1126/science.278.5341.1315 · 1997 · External reference
Homozygous autosomal recessive DIAPH1 mutation associated with central nervous system involvement and aspergillosis: A rare case
2022 · External reference
Mutations in the γ-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26)
10.1086/379286 · 2003 · External reference
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
10.1038/ng.1091 · 2012 · External reference
10.3390/jcm13051500
10.3390/jcm13051500 · External reference
Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function
10.1016/j.stemcr.2023.11.004 · 2024 · External reference
10.1186/1471-2350-12-49
10.1186/1471-2350-12-49 · External reference
Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells
10.1093/hmg/ddac128 · 2022 · External reference
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
10.1093/brain/awm335 · 2007 · External reference
New avenues for therapy in mitochondrial optic neuropathies
2021 · External reference
10.3389/fneur.2021.661938
10.3389/fneur.2021.661938 · External reference
Autosomal dominant optic atrophy plus syndrome: A case report
10.7869/djo.570 · 2020 · External reference
Ocular manifestations in patients with sensorineural hearing loss
10.18502/jovr.v17i4.12321 · 2022 · External reference
Multi-system neurological disease is common in patients with OPA1 mutations
10.1093/brain/awq007 · 2010 · External reference
10.1186/s12920-024-01850-6
10.1186/s12920-024-01850-6 · External reference
10.3390/biom13091346
10.3390/biom13091346 · External reference
10.3389/fnmol.2015.00045
10.3389/fnmol.2015.00045 · External reference
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WFS1 Gene Delivery Rescues Visual Function in a Mouse Model of Wolfram Syndrome
10.1186/s40478-026-02295-x · 2026 · External reference
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
10.1093/hmg/10.22.2501 · 2001 · External reference
10.3390/genes15060785
10.3390/genes15060785 · External reference
WFS1 (Wolfram syndrome 1) gene product: Predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain
10.1093/hmg/10.5.477 · 2001 · External reference
Identification of the cis-acting endoplasmic reticulum stress response element responsible for transcriptional induction of mammalian glucose-regulated proteins
10.1074/jbc.273.50.33741 · 1998 · External reference
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
10.1038/ng.3319 · 2015 · External reference
Mutations in unfolded protein response regulator ATF6 cause hearing and vision loss syndrome
10.1172/jci175562 · 2024 · External reference
Unresolved reference
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Unresolved reference
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Structure of the peroxisomal Pex1/Pex6 ATPase complex bound to a substrate
10.1038/s41467-023-41640-9 · 2023 · External reference
PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease
10.1203/00006450-200206000-00008 · 2002 · External reference
A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: A case report and literature review
10.21037/tp-20-167 · 2021 · External reference
PEX1mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
10.1002/humu.20211 · 2005 · External reference
Heimler syndrome with tooth agenesis, abnormal enamel and dentin mineralization, root maldevelopment, and PEX1 mutation
10.1016/j.identj.2025.04.002 · 2025 · External reference
The peroxisomal AAA-ATPase Pex1/Pex6 unfolds substrates by processive threading
10.1038/s41467-017-02474-4 · 2018 · External reference
Zellweger spectrum disorders: Clinical overview and management approach
10.1186/s13023-015-0368-9 · 2015 · External reference
Clinical utility gene card for: Zellweger syndrome spectrum
10.1038/ejhg.2014.250 · 2015 · External reference
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
10.1002/humu.21388 · 2010 · External reference
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes
10.1111/ahg.12386 · 2020 · External reference
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene
10.1016/j.ajhg.2010.10.009 · 2010 · External reference
Marshall syndrome associated with a splicing defect at the COL11A1 locus
10.1086/301789 · 1998 · External reference
10.3390/biomedicines11061616
10.3390/biomedicines11061616 · External reference
Splicing mutations of 54-bp exons in the COL11A1 gene cause marshall syndrome, but other mutations cause overlapping marshall/stickler phenotypes
10.1086/302585 · 1999 · External reference
Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: Implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype
10.1080/00016480410016162 · 2004 · External reference
Mutation update for COL2A1 gene variants associated with type II collagenopathies
2015 · External reference
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
10.1136/jmg.2005.035717 · 2005 · External reference
10.1186/s12881-020-0963-z
10.1186/s12881-020-0963-z · External reference
The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity
10.1016/j.bone.2024.117013 · 2024 · External reference
Stickler syndrome: Clinical characteristics and diagnostic criteria
10.1002/ajmg.a.30955 · 2005 · External reference
Type II achondrogenesis-hypochondrogenesis: Identification of abnormal type II collagen
1988 · External reference
A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family
10.1002/jcla.23728 · 2021 · External reference
Stickler syndrome and the vitreous phenotype: Mutations in COL2A1 and COL11A1
10.1002/humu.21257 · 2010 · External reference
Molecular genetics of the COL2A1-related disorders
10.1016/j.mrrev.2016.02.003 · 2016 · External reference
Clinical and molecular characterization and discovery of novel genetic mutations of Chinese patients with COL2A1-related dysplasia
10.7150/ijbs.38811 · 2020 · External reference
TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/β-catenin signaling
10.1016/j.cell.2009.07.048 · 2009 · External reference
Isolation of a candidate gene for Norrie disease by positional cloning
10.1038/ng0692-199 · 1992 · External reference
10.1186/s12886-021-01852-3
10.1186/s12886-021-01852-3 · External reference
Structural basis of the Norrin-Frizzled 4 interaction
10.1038/cr.2015.92 · 2015 · External reference
Ectopic GRHL2 expression due to non-coding mutations promotes cell state transition and causes posterior polymorphous corneal dystrophy 4
10.1016/j.ajhg.2018.02.002 · 2018 · External reference
CUGC for posterior polymorphous corneal dystrophy (PPCD)
10.1038/s41431-019-0448-8 · 2020 · External reference
10.3390/genes12040484
10.3390/genes12040484 · External reference
Confirmation of GRHL2 as the gene for the DFNA28 locus
10.1002/ajmg.a.36017 · 2013 · External reference
Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome
10.1016/j.ajhg.2014.08.001 · 2014 · External reference
Identification of receptors and signaling pathways for orphan bone morphogenetic protein/growth differentiation factor ligands based on genomic analyses
10.1074/jbc.m504629200 · 2005 · External reference
Rare heterozygous GDF6 variants in patients with renal anomalies
10.1038/s41431-020-0678-9 · 2020 · External reference
Growth differentiation factor 6 promotes vascular stability by restraining vascular endothelial growth factor signaling
10.1161/atvbaha.117.309571 · 2018 · External reference
10.3390/genes12091354
10.3390/genes12091354 · External reference
A novel GDF6 mutation in a family with multiple synostoses syndrome without hearing loss
10.1159/000492418 · 2018 · External reference
Incomplete penetrance and phenotypic variability characterize GDF6-attributable oculo-skeletal phenotypes
10.1093/hmg/ddp008 · 2009 · External reference
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies
10.1093/hmg/dds560 · 2013 · External reference
A new subtype of multiple synostoses syndrome is caused by a mutation in GDF6 that decreases its sensitivity to noggin and enhances its potency as a BMP signal
10.1002/jbmr.2761 · 2015 · External reference
GDF6, a Novel Locus for a Spectrum of Ocular Developmental Anomalies
10.1086/511280 · 2007 · External reference
Further delineation of the GDF6 related multiple synostoses syndrome
10.1002/ajmg.a.38503 · 2018 · External reference
Neurofibromatosis type 2 (NF2): Molecular insights and therapeutic avenues
10.3390/ijms25126558 · 2024 · External reference
Genetic Severity Score predicts clinical phenotype in NF2
10.1136/jmedgenet-2017-104519 · 2017 · External reference
Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors
10.1101/gad.12.8.1121 · 1998 · External reference
Shedding light on Merlin’s wizardry
10.1016/j.tcb.2007.03.006 · 2007 · External reference
Ophthalmologic Findings and Long-Term Course in Patients with Neurofibromatosis Type 2
10.1016/j.ajo.2005.12.042 · 2006 · External reference
Whirlin Replacement Restores the Formation of the USH2 Protein Complex in Whirlin Knockout Photoreceptors
10.1167/iovs.10-6141 · 2011 · External reference
Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F
10.1038/s41467-023-38038-y · 2023 · External reference
PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models
10.1172/jci177700 · 2024 · External reference
Treatment following Triple-AAV Delivery in Mature Murine Model of Human CDH23-Associated Hearing Loss
10.3390/cimb45120590 · 2023 · External reference
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c
10.1038/nbt.3801 · 2017 · External reference
Gene Therapy for Inherited Retinal Diseases: From Laboratory Bench to Patient Bedside and Beyond
10.1007/s40123-023-00862-2 · 2023 · External reference
Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A
10.1101/cshperspect.a017319 · 2015 · External reference
Dual-AAV Vector-Mediated Expression of MYO7A Improves Vestibular Function in a Mouse Model of Usher Syndrome 1B
10.1016/j.omtm.2023.08.012 · 2023 · External reference
AAV-S: A versatile capsid variant for transduction of mouse and primate inner ear
10.1016/j.omtm.2021.03.019 · 2021 · External reference
10.1371/journal.pone.0148874
10.1371/journal.pone.0148874 · External reference
OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model
10.1038/s41598-018-20838-8 · 2018 · External reference
AAV-Mediated PEX1 Gene Augmentation Improves Visual Function in the PEX1-Gly844Asp Mouse Model for Mild Zellweger Spectrum Disorder
10.1016/j.omtm.2021.09.002 · 2021 · External reference
Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease
10.15252/emmm.202317393 · 2023 · External reference
Can Stem Cells Restore Hearing? A Narrative Review Exploring Regenerative Medicine for Congenital Hearing Loss
10.26599/joto.2025.9540039 · 2025 · External reference
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