Publications:

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science

Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 2613G>A

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative Ophthalmology & Visual Science

Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C

Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 2613G>A

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Scientific Reports

Jespersgaard, Cathrine C; Fang, Mingyan M; Bertelsen, Mette M; Dang, Xiao X; Jensen, Hanne H; Chen, Yulan Y; Bech, Niels N; Dai, Lanlan L; Rosenberg, Thomas T; Zhang, Jianguo J; Møller, Lisbeth Birk LB; Tümer, Zeynep Z; Brøndum-Nielsen, Karen K; Grønskov, Karen K

Publication Date: 2019-02-04

Variant appearance in text: ABCA4: 2613G>A; Trp871*

PubMed Link: 30718709

Variant Present in the following documents:

• 41598_2018_38007_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page