Aarnisalo AA, Pietola L, Joensuu J et al (2007) Anti-clarin-1AAV-delivered ribozyme induced apoptosis in the mouse cochlea. Hear Res 230:9–16

Article  CAS  PubMed  Google Scholar 

Adato A, Vreugde S, Joensuu T et al (2020) USH3A transcripts encode clarin-1, a fourtransmembrane- domain protein with a possible role in sensory synapses. Eur J Hum Genet 10:339–350

Article  Google Scholar 

Alyafee Y, Al Tuwaijri A, Alam Q, Umair M, Haddad S (2021a) Next generation sequencing based non-invasive prenatal testing (NIPT): First Report from Saudi Arabia. Front Genet 12:630787. https://doi.org/10.3389/fgene.2021.630787

Article  PubMed  PubMed Central  Google Scholar 

Alyafee Y, Alam Q, Altuwaijri A, Umair M, Haddad S et al (2021b) Next-generation sequencing-based Pre-implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia. Genes (Basel) 12(4):461. https://doi.org/10.3390/genes12040461

Article  CAS  PubMed  Google Scholar 

Alyafee Y, Al Tuwaijri A, Umair M, Alharbi M, Haddad S, Ballow M (2022) Non-invasive prenatal testing for autosomal recessive disorders: a New Promising Approach. Front Genet 13:1047474. https://doi.org/10.3389/fgene.2022.1047474

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cunningham CL, Müller U (2019) Molecular structure of the hair cell mechanoelectrical transduction complex. Cold Spring Harb Perspect Med 9:a033167

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gillespie PG, Müller U (2009) Mechanotransduction by hair cells: models, molecules, and mechanisms. Cell 139:33–44

Article  CAS  PubMed  PubMed Central  Google Scholar 

Joensuu T, Hämäläinen R, Yuan B et al (2001) Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet 69:673–684

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kalatzis V, Petit C (1998) The fundamental and medical impacts of recent progress in research on hereditary hearing loss. Hum Mol Genet 7:1589–1597

Article  CAS  PubMed  Google Scholar 

Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Muller U, Kachar B (2007) Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells. Nature 449:87–91

Article  CAS  PubMed  Google Scholar 

Mutery AA, Mahfood M, Chouchen J et al (2021) Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries. Hum Genet 141:595–605

Article  PubMed  Google Scholar 

Ness SL, Ben-Yosef T, Bar-Lev A et al (2003) Genetic homogeneity and phenotypic variability among Ashkenazi jews with Usher syndrome type III. J Med Genet 40:767–772

Article  CAS  PubMed  PubMed Central  Google Scholar 

Plantinga RF, Kleemola L, Huygen PL et al (2005) Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients. Audiol Neurootol 10:79–89

Article  CAS  PubMed  Google Scholar 

Smith RJ, Bale JF, White KR (2005) Sensorineural hearing loss in children. Lancet 365:879–890

Article  PubMed  Google Scholar 

Ullah A, Gul A, Umair M, Irfanullah, Ahmad F, Aziz A, Wali A, Ahmad W (2018) Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation. Genet Mol Biol 41:1–8

Article  CAS  PubMed  PubMed Central  Google Scholar 

Umair M, Eckstein G, Rudolph G, Strom T, Graf E, Hendig D, Hoover J, Alanay J, Meitinger T, Schmidt H, Ahmad W (2018) Homozygous XYLT2 variants as a cause of spondyloocular syndrome. Clin Genet 93(4):913-918.https://doi.org/10.1111/cge.13179

Article  CAS  PubMed  Google Scholar 

Umair M, Rafique A, Ullah A, Ahmad F, Ali RH, Nasir A, Ansar M, Ahmad W (2017) Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families. Congenit Anom (Kyoto) 57(2):45-51. https://doi.org/10.1111/cga.12187

Article  CAS  Google Scholar 

Vona B, Mazaheri N, Lin SJ et al (2021) A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans. Hum Genet 140:915–931

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wright CF, FitzPatrick DR, Firth HV (2018) Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet 19:253–268

Article  CAS  PubMed  Google Scholar 

Zehri Z, Khan H, Ahmed S, Khan MJ, Shahwani NA, Nawaz S, Umair M (2024) Delineating the Disease boundaries: homozygous CDC14A variants underlying nonsyndromic hearing loss and hearing impairment infertile male syndrome. Mol Syndromol 15(4):269–274. https://doi.org/10.1159/000536016

Article  CAS  PubMed  Google Scholar