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American Journal of Human Genetics|June 21, 2002
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafnessL M Astuto, J M Bork, M D Weston, et al.
Clinical Genetics|February 22, 2023
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophyRabia Faridi, Rizwan Yousaf, Shoujun Gu, et al.
Learning Health Systems|January 17, 2025
The Complete Inpatient Record Using Comprehensive Electronic Data (CIRCE) project: A team-based approach to clinically validated, research-ready electronic health record dataAndrea L C Schneider, Jennifer C Ginestra, Meeta Prasad Kerlin, et al.
American Journal of Human Genetics|November 25, 2000
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23J M Bork, L M Peters, S Riazuddin, et al.
Physical Review Letters|June 13, 2009
Parity violation constraints using cosmic microwave background polarization spectra from 2006 and 2007 observations by the QUaD polarimeterE Y S Wu, P Ade, J Bock, et al.
American Journal of Human Genetics|January 9, 2008
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob W J Collin, Ersan Kalay, Muhammad Tariq, et al.
Cancer Research|July 13, 2018
Altered Cell-Cycle Control, Inflammation, and Adhesion in High-Risk Persistent Bronchial DysplasiaDaniel T Merrick, Michael G Edwards, Wilbur A Franklin, et al.
Annals of Surgery|June 13, 2019
Preoperative Ultrasound Assessment of Regional Lymph Nodes in Melanoma Patients Does not Provide Reliable Nodal Staging: Results From a Large Multicenter TrialJohn F Thompson, Lauren E Haydu, Roger F Uren, et al.
Nature Genetics|October 2, 2012
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
European Journal of Human Genetics : EJHG|December 11, 2014
Challenges and solutions for gene identification in the presence of familial locus heterogeneityAtteeq U Rehman, Regie Lyn P Santos-Cortez, Meghan C Drummond, et al.
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