Associated Papers
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
41359850 (PubMed )
Supplement: pnas.2518445122.sapp.pdf
Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.
Sun L et al.
Frontiers of Medicine, 2024
Molecular genetic landscape of hereditary hearing loss in Pakistan.
Naz S
Human Genetics, 2022
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Lerat J et al.
Clinical Genetics, 2019
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Liaqat K et al.
Journal of Human Genetics, 2018
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Rehman AU et al.
European Journal of Human Genetics : Ejhg, 2015
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
Shabbir MI et al.
Journal of Medical Genetics, 2006
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E et al.
Human Mutation, 2006
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