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American Journal of Human Genetics|April 20, 2010
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71Darryl Y Nishimura, Lisa M Baye, Rahat Perveen, et al.RNA Biology|April 10, 2025
Alternative splicing of the Snap23 microexon is regulated by MBNL, QKI, and RBFOX2 in a tissue-specific manner and is altered in striated muscle diseasesGabrielle M Gentile, R Eric Blue, Grant A Goda, et al.The Journal of Investigative Dermatology|November 19, 2010
A flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindredsJulie M Lang, Michael Shennan, Jenny C-N Njauw, et al.Nature Communications|February 9, 2020
Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degenerationValentina Cipriani, Laura Lorés-Motta, Fan He, et al.Ophthalmology|February 14, 2016
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal DiseaseJamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.Nature Communications|May 26, 2026
Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expressionJacob Sampson, Ayellet V Segrè, Kinga M Bujakowska, et al.Human Mutation|June 21, 2021
Prevalence and phenotype associations of complement factor I mutations in geographic atrophyAdnan H Khan, Janice Sutton, Angela J Cree, et al.Journal of Medical Genetics|August 25, 2005
Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatmentA Del Fattore, B Peruzzi, N Rucci, et al.American Journal of Medical Genetics. Part A|December 14, 2007
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)T A Briggs, G M H Abdel-Salam, M Balicki, et al.BMC Nephrology|May 2, 2023
The effect of a novel, digital physical activity and emotional well-being intervention on health-related quality of life in people with chronic kidney disease: trial design and baseline data from a multicentre prospective, wait-list randomised controlled trial (kidney BEAM)C G Walklin, Hannah M L Young, E Asghari, et al.Pageof 25