Unveiling hidden genetic complexity: Coexistence of <scp><i>HGSNAT</i></scp> and <scp><i>EYS</i></scp> variants in a patient with retinal dystrophy-Reference-Cited by-同舟云学术

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Unveiling hidden genetic complexity: Coexistence of HGSNAT and EYS variants in a patient with retinal dystrophy

Published:2024-07-10 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Lin Siying¹²,Schiff Elena¹²,Arno Gavin¹²³,Mahroo Omar A.¹²⁴,Webster Andrew R.¹²

Affiliation:

1. National Institute of Health Research Biomedical Research Centre Moorfields Eye Hospital and the UCL Institute of Ophthalmology London UK

2. UCL Institute of Ophthalmology University College London London UK

3. Division of Research Greenwood Genetic Center Greenwood South Carolina USA

4. Department of Ophthalmology St Thomas' Hospital London UK

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63805

Reference14 articles.

1. Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

2. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

3. Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

4. Genomics England. (2020).The National Genomic Research Library v5.1.https://doi.org/10.6084/m9.figshare.4530893.v7

5. Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

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