Publications:

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Molecular Genetics & Genomic Medicine

Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M

Publication Date: 2021-12

Variant appearance in text: USH2A: 7883dupC

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

View BVdb publication page

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Molecular Genetics & Genomic Medicine

Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M

Publication Date: 2021-03-22

Variant appearance in text: USH2A: 7883dupC

PubMed Link: 33749171

Variant Present in the following documents:

• MGG3-9-e1663-s001.xlsx, sheet 1

View BVdb publication page

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.

Human Molecular Genetics

Toms, Maria M; Dubis, Adam M AM; de Vrieze, Erik E; Tracey-White, Dhani D; Mitsios, Andreas A; Hayes, Matthew M; Broekman, Sanne S; Baxendale, Sarah S; Utoomprurkporn, Nattawan N; Bamiou, Doris D; Bitner-Glindzicz, Maria M; Webster, Andrew R AR; Van Wijk, Erwin E; Moosajee, Mariya M

Publication Date: 2020-07-21

Variant appearance in text: USH2A: 7883dupC

PubMed Link: 31998945

Variant Present in the following documents:

• Main text
• ddaa004.pdf

View BVdb publication page