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Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance

1
North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, St Mary’s Hospital, Manchester M13 9WL, UK
2
Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK
3
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20016, USA
4
University College London Institute of Ophthalmology, London EC1V 9EL, UK
5
Moorfields Eye Hospital, London EC1V 2PD, UK
*
Authors to whom correspondence should be addressed.
Genes 2020, 11(11), 1274; https://doi.org/10.3390/genes11111274
Received: 12 October 2020 / Revised: 23 October 2020 / Accepted: 25 October 2020 / Published: 29 October 2020
(This article belongs to the Special Issue Recent Advances in Inherited Eye Disease)
Note: In lieu of an abstract, this is an excerpt from the first page.

Inherited retinal diseases (IRDs) are a diverse and variable group of rare human disorders [...] View Full-Text
MDPI and ACS Style

Ellingford, J.M.; Hufnagel, R.B.; Arno, G. Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance. Genes 2020, 11, 1274. https://doi.org/10.3390/genes11111274

AMA Style

Ellingford JM, Hufnagel RB, Arno G. Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance. Genes. 2020; 11(11):1274. https://doi.org/10.3390/genes11111274

Chicago/Turabian Style

Ellingford, Jamie M., Robert B. Hufnagel, and Gavin Arno. 2020. "Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance" Genes 11, no. 11: 1274. https://doi.org/10.3390/genes11111274

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