NARA Discovery
NARA Subscribed Scholarly Literature Discovery
Boolean search: climate AND coral · microplastic OR nanoplastic · plastic NOT freshwater · "marine heatwave"
Advanced Search
Topic searches article titles and abstracts. Starts a new search; publisher and year refine it.
Searches article titles and abstracts.
Accepts bare DOI, doi: prefix, or a doi.org URL.
Complete publisher name. Publisher imprints are grouped under their main publisher where applicable.
Exact match by full journal title or ISSN.
–
Refine Results Clear Filters
Collection
NARA Subscribed1
Publisher
Springer Nature1
Journal
Human Genetics1
Publication Year
20241
Brett M. Colbert results 1 · Newest (Page 1/1, per page 25)
Export CSV Export RIS Export current results · up to 5,000 records
Author: Brett M. Colbert ×Clear All Filters
Search Results
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysisNARA Subscribed
Human Genetics · 2024 · Vol. 143 · Issue 5 · Springer
Brett M. Colbert; Cris Lanting; Molly Smeal; Susan Blanton; Derek M. Dykxhoorn; Pei-Ciao Tang; Richard L. Getchell; Hedwig Velde; Mirthe Fehrmann; Ryan Thorpe; Prem Chapagain; Heidy Elkhaligy; Hannie Kremer; Helger Yntema; Lonneke Haer-Wigman; Shelby Redfield; Tieqi Sun; Saskia Bruijn; Astrid Plomp; Thadé Goderie; Jiddeke van de Kamp; Rolien H. Free; Jolien Klein Wassink-Ruiter; Josine Widdershoven; Els Vanhoutte; Liselotte Rotteveel; Marjolein Kriek; Marieke van Dooren; Lies Hoefsloot; Heriette H. W. de Gier; M. F. van Dooren; S. G. Kant; H. H. W. de Gier; E. H. Hoefsloot; M. P. van der Schroeff; L. J. C. Rotteveel; F. G. Ropers; M. Kriek; E. Aten; J. C. C. Widdershoven; J. R. Hof; K. Hellingman; V. Vernimmen; H. Kremer; R. J. E. Pennings; I. Feenstra; C. P. Lanting; H. G. Yntema; F. L. J. Cals; L. Haer-Wigman; R. H. Free; J. S. Klein Wassink-Ruiter; A. L. Smit; M. J. van den Boogaard; A. M. A. Lachmeier; J. J. Smits; F. A. Ebbens; S. M. Maas; A. Plomp; T. P. M. Goderie; P. Merkus; J. van de Kamp; Amanda Schaefer; Diana Kolbe; Hela Azaiez; Grace Rabie; Armal Aburayyan; Mariana Kawas; Moien Kanaan; Jourdan Holder; Shin-ichi Usami; Zhengyi Chen; Pu Dai; Jeffrey Holt; Rick Nelson; Byung Yoon Choi; Eliot Shearer; Richard J. H. Smith; Ronald Pennings; Xue Zhong Liu
TMPRSS3 -related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies. We conducted a cross-sectional genomics study coupled with retrospective clinical phenotype analysis on 127 individuals. These individuals were from 16 academic medical centers across 6 countries. Key findings revealed 47 unique TMPRSS3 variants with significant differe...
View Details View Full Text