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Journal of Translational Medicine|October 28, 2019
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss geneDominika Oziębło, Anna Sarosiak, Marcin L Leja, et al.BMC Nephrology|May 16, 2012
A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathyBernward Hinkes, Karl F Hilgers, Hanno J Bolz, et al.Clinical & Experimental Ophthalmology|April 13, 2019
Genetic testing in patients with retinitis pigmentosa: Features of unsolved casesJohannes Birtel, Martin Gliem, Akio Oishi, et al.Human Mutation|February 16, 2007
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunctionInga Ebermann, Martin Walger, Hendrik P N Scholl, et al.European Journal of Human Genetics : EJHG|July 11, 2013
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutationsSolaf M Elsayed, Raoul Heller, Michaela Thoenes, et al.Investigative Ophthalmology & Visual Science|August 7, 2019
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon SkippingPeter Charbel Issa, Martin Gliem, Imran H Yusuf, et al.Investigative Ophthalmology & Visual Science|August 9, 2017
Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal CiliopathyJohannes Birtel, Martin Gliem, Elisabeth Mangold, et al.Pediatric Nephrology (Berlin, Germany)|February 8, 2014
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathiesHenry Fehrenbach, Christian Decker, Tobias Eisenberger, et al.Plos One|December 14, 2018
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosaJohannes Birtel, Martin Gliem, Elisabeth Mangold, et al.Nature Communications|September 13, 2023
The tectonic complex regulates membrane protein composition in the photoreceptor ciliumHanh M Truong, Kevin O Cruz-Colón, Jorge Y Martínez-Márquez, et al.Pageof 19