Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

Corradi, Z., Khan, M., Hitti-Malin, R., Mishra, K., Whelan, L., Cornelis, S. S., Hoyng, C. B., Kämpjärvi, K., Klaver, C. C. W., Liskova, P., Stöhr, H., Weber, B. H. F., Banfi, S., Farrar, G. J., Sharon, D., Zernant, J., Allikmets, R., Dhaenens, C.-M., & Cremers, F. P. M. (2023). Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability. Human Genetics and Genomics Advances, 4(4), 100237. https://doi.org/10.1016/j.xhgg.2023.100237
Authors:
Zelia Corradi
Mubeen Khan
Rebekkah Hitti-Malin
Ketan Mishra
Laura Whelan
Stéphanie S. Cornelis
Carel B. Hoyng
Kati Kämpjärvi
Caroline C.W. Klaver
Petra Liskova
Heidi Stöhr
Bernhard H.F. Weber
Sandro Banfi
G. Jane Farrar
Dror Sharon
Jana Zernant
Rando Allikmets
Claire-Marie Dhaenens
Frans P.M. Cremers
Affiliated Authors:
Jana Zernant
Rando Allikmets
Author Keywords:
abca4
abca4-associated retinopathies
deep-intronic variants
missing heritability
smmips sequencing
Publication Type:
Article
Unique ID:
10.1016/j.xhgg.2023.100237
PMID:
Publication Date:
Data Source:
Scopus

Record Created: