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Scientific Reports|June 9, 2023
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patientsLaura Whelan, Adrian Dockery, Kirk A J Stephenson, et al.
Frontiers in Genetics|October 2, 2023
<i>ABCA4</i> c.6480-35A>G, a novel branchpoint variant associated with Stargardt diseaseMaría Rodríguez-Hidalgo, Suzanne E de Bruijn, Zelia Corradi, et al.
Investigative Ophthalmology & Visual Science|June 4, 2016
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal RetinoschisisAjoy Vincent, Judith Ng, Christina Gerth-Kahlert, et al.
Molecular Vision|December 1, 2011
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mappingAnna M Siemiatkowska, Kentar Arimadyo, Luminita M Moruz, et al.
Human Genetics|June 22, 2010
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardationArijit Mukhopadhyay, Jamie M Kramer, Gerard Merkx, et al.
Human Mutation|July 9, 2004
USH2A mutation analysis in 70 Dutch families with Usher syndrome type IIRonald J E Pennings, Heleen Te Brinke, Michael D Weston, et al.
Journal of Medical Genetics|April 29, 2021
<i>BBS1</i> branchpoint variant is associated with non-syndromic retinitis pigmentosaZeinab Fadaie, Laura Whelan, Adrian Dockery, et al.
Ophthalmology|March 16, 2016
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt DiseaseRiccardo Sangermano, Nathalie M Bax, Miriam Bauwens, et al.
Investigative Ophthalmology & Visual Science|May 31, 2014
IMPG2-associated retinitis pigmentosa displays relatively early macular involvementRamon A C van Huet, Rob W J Collin, Anna M Siemiatkowska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2025
Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosaTamar Hayman, Shai Ovadia, Jaya Krishnan, et al.
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