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
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Spedicati B et al.
Biomedicines, 2023
Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.
Kabahuma RI et al.
Molecular Genetics & Genomic Medicine, 2022
Searching for the Molecular Basis of Partial Deafness.
Oziębło D et al.
International Journal of Molecular Sciences, 2022
The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.
Ivarsdottir EV et al.
Communications Biology, 2021
34108613 (PubMed )
Supplement: 42003_2021_2224_MOESM2_ESM.pdf
Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family.
Zhou C et al.
Frontiers in Genetics, 2021
The TRIOBP Isoforms and Their Distinct Roles in Actin Stabilization, Deafness, Mental Illness, and Cancer.
Zaharija B et al.
Molecules (basel, Switzerland), 2020
TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing.
Katsuno T et al.
Jci Insight, 2019
Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.
Pollak A et al.
Bmc Medical Genetics, 2017
Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.
Wesdorp M et al.
Hearing Research, 2017
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A et al.
Ear and Hearing, 0
34753855 (PubMed )
Supplement: aud-43-1049-s003.xlsx › variant_4
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