selected publications
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academic article
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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Human Genetics.
137.
2018
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
Journal of Medical Genetics.
54.
2017
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.
Genes.
8.
2017
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
Neurobiology of Disease.
98.
2017
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
Ophthalmic Genetics.
38.
2017
Phenotypic subregions within the split-hand/foot malformation 1 locus.
Human Genetics.
135.
2016
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
Molecular Genetics & Genomic Medicine.
4.
2016
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
PLOS Genetics.
11.
2015
Partial USH2A deletions contribute to Usher syndrome in Denmark.
European Journal of Human Genetics.
23.
2015
Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.
Gene.
563.
2015
[The genome in terms of audiology and ophthalmology]..
Ugeskrift for Laeger.
176.
2014
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dataset
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Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
taylor-&-francis-group.
2016
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
public-library-of-science.
2015
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