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
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
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
Hearing Research.
339.
2016
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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