Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.
Rezaie N et al.
Bmc Medical Genomics, 2024
39614311 (PubMed )
Supplement: 12920_2024_2055_MOESM1_ESM.xlsx › Sheet1
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM et al.
Human Genetics, 2024
38691166 (PubMed )
Supplement: 439_2024_2648_MOESM4_ESM.xlsx › eTable_2_All_Participants
Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
Nisenbaum E et al.
Audiology & Neuro-otology, 2023
Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth.
Noorian S et al.
Journal of Pediatric Genetics, 2021
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