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Ophthalmic Genetics Volume 41, 2020 - Issue 4
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Research Reports

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases

Mital Shaha Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK;b Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UKORCID Iconhttps://orcid.org/0000-0001-7496-6121View further author information
ORCID Icon,
Morag Shanksc Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, UKView further author information
,
Emily Packhamc Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, UKView further author information
,
Jonathan Williamsc Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, UKView further author information
,
Jesse Haysmoorec Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, UKView further author information
,
Robert E. MacLarena Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK;b Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UKView further author information
,
Andrea H. Némethd Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK;e Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UKView further author information
,
Penny Cloustonc Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, UKView further author information
&
Susan M. Downesa Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK;b Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UKCorrespondence[email protected]
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Pages 331-337 | Received 06 May 2020, Accepted 31 May 2020, Published online: 16 Jun 2020

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Sena A Gocuk, Yuanzhang Jiao, Alexis Ceecee Britten-Jones, Nathan M Kerr, Lyndell Lim, Simon Skalicky, Richard Stawell, Lauren N Ayton & Heather G Mack. (2022) Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice. Clinical Ophthalmology 16, pages 1127-1138.
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Chetan Khantibai Patel, Suzanne Broadgate, Ahmed Shalaby, Jing Yu, Andrea H. Nemeth, Susan M Downes & Stephanie Halford. (2022) Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis. Ophthalmic Genetics 43:2, pages 201-209.
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Articles from other publishers (12)

Shu Wen, Meng Wang, Xinye Qian, Yumei Li, Keqing Wang, Jongsu Choi, Mark E Pennesi, Paul Yang, Molly Marra, Robert K Koenekoop, Irma Lopez, Anna Matynia, Michael Gorin, Ruifang Sui, Fengxia Yao, Kerry Goetz, Fernanda Belga Ottoni Porto & Rui Chen. (2023) Systematic assessment of the contribution of structural variants to inherited retinal diseases. Human Molecular Genetics 32:12, pages 2005-2015.
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Jennifer Kirkby, Stephanie Halford, Morag Shanks, Anthony Moore, Anthony Gait, Lucy Jenkins, Penny Clouston, Chetan K. Patel & Susan M. Downes. (2023) A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation. Genes 14:6, pages 1193.
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Alexis Ceecee Britten-Jones, Sena A. Gocuk, Kai Lyn Goh, Aamira Huq, Thomas L. Edwards & Lauren N. Ayton. (2023) The Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysis. American Journal of Ophthalmology 249, pages 57-73.
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Helena M. Feenstra, Saoud Al-Khuzaei, Mital Shah, Suzanne Broadgate, Morag Shanks, Archith Kamath, Jing Yu, Jasleen K. Jolly, Robert E. MacLaren, Penny Clouston, Stephanie Halford & Susan M. Downes. (2022) Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes. Genes 13:8, pages 1423.
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Ulrich Kellner, Sandra Jansen, Franziska Bucher & Katarina Stingl. (2022) Diagnostik erblicher Netzhautdystrophien. Stellenwert molekulargenetischer Diagnostik aus PatientenperspektiveDiagnosis of inherited retinal dystrophies. Relevance of molecular genetic testing from the patient’s perspective. Die Ophthalmologie 119:8, pages 820-826.
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Kirk A. J. Stephenson, Julia Zhu, Adrian Dockery, Laura Whelan, Tomás Burke, Jacqueline Turner, James J. O’Byrne, G. Jane Farrar & David J. Keegan. (2022) Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing. International Journal of Molecular Sciences 23:2, pages 995.
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Adrian Dockery, Laura Whelan, Pete Humphries & G. Jane Farrar. (2021) Next-Generation Sequencing Applications for Inherited Retinal Diseases. International Journal of Molecular Sciences 22:11, pages 5684.
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Johannes Birtel, Imran H. Yusuf, Claudia Priglinger, Günter Rudolph & Peter Charbel Issa. (2021) Diagnosis of Inherited Retinal Diseases. Klinische Monatsblätter für Augenheilkunde 238:03, pages 249-259.
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Lewis E. Fry, Michelle E. McClements & Robert E. MacLaren. (2021) Analysis of Pathogenic Variants Correctable With CRISPR Base Editing Among Patients With Recessive Inherited Retinal Degeneration. JAMA Ophthalmology 139:3, pages 319.
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Susan M. Downes, Tham Nguyen, Vicky Tai, Suzanne Broadgate, Mital Shah, Saoud Al-Khuzaei, Robert E. MacLaren, Morag Shanks, Penny Clouston & Stephanie Halford. (2020) Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL. Genes 11:12, pages 1497.
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Saoud Al-khuzaei, Suzanne Broadgate, Stephanie Halford, Jasleen K. Jolly, Morag Shanks, Penny Clouston & Susan M. Downes. (2020) Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients. Genes 11:11, pages 1288.
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Kari Branham, Dana Schlegel, Abigail T. Fahim & K. Thiran Jayasundera. (2020) Genetic testing for inherited retinal degenerations: Triumphs and tribulations. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 184:3, pages 571-577.
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