Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss.
Liu X et al.
Plos One, 2023
Elmod3 knockout leads to progressive hearing loss and abnormalities in cochlear hair cell stereocilia.
Li W et al.
Human Molecular Genetics, 2019
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
Li W et al.
Human Genetics, 2018
An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.
Jaworek TJ et al.
Plos Genetics, 2013
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