Associated Papers
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.
Lewis MA et al.
Plos Genetics, 2023
38011198 (PubMed )
Supplement: pgen.1011058.s006.xlsx › mouse_deafness_genes
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.
Lewis MA et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37163093 (PubMed )
Supplement: media-2.xlsx › Supp._Table_3C
Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding.
Kurihara Y et al.
The Journal of Clinical Investigation, 2023
Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank.
Lewis MA et al.
Bmc Biology, 2022
35761239 (PubMed )
Supplement: 12915_2022_1349_MOESM2_ESM.xlsx › Table_S3_-_mice
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.
Kanai SM et al.
Disease Models & Mechanisms, 2022
Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.
Pritchard AB et al.
American Journal of Medical Genetics. Part A, 2020
Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.
Sabrautzki S et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2016
Genomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation.
Menzi F et al.
Scientific Reports, 2016
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.
Gordon CT et al.
American Journal of Human Genetics, 2015
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