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Human Mutation|June 19, 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt diseaseMubeen Khan, Stéphanie S Cornelis, Muhammad Imran Khan, et al.
Genes|January 11, 2018
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate GenesGaluh D N Astuti, L Ingeborgh van den Born, M Imran Khan, et al.
Genome Research|March 4, 2025
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approachesMerel Stemerdink, Tabea Riepe, Nick Zomer, et al.
Experimental Eye Research|May 30, 2024
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from PakistanRabia Basharat, Suzanne E de Bruijn, Muhammad Zahid, et al.
Ophthalmology|August 7, 2022
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX GeneSamar Yahya, Claire E L Smith, James A Poulter, et al.
Ophthalmology|March 19, 2013
Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunctionSusanne Roosing, L Ingeborgh van den Born, Carel B Hoyng, et al.
American Journal of Human Genetics|February 18, 2010
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathyKonstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, et al.
American Journal of Human Genetics|August 13, 2011
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosaRıza Köksal Ozgül, Anna M Siemiatkowska, Didem Yücel, et al.
Journal of Medical Genetics|July 8, 2020
A <i>RIPOR2</i> in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing lossSuzanne E de Bruijn, Jeroen J Smits, Chang Liu, et al.
Acta Ophthalmologica|August 25, 2021
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registryEsmee H Runhart, Patty Dhooge, Magda Meester-Smoor, et al.
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