Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

Hitti-Malin, R. J., Panneman, D. M., Corradi, Z., Boonen, E. G. M., Astuti, G., Dhaenens, C.-M., Stöhr, H., Weber, B. H. F., Sharon, D., Banin, E., Karali, M., Banfi, S., Ben-Yosef, T., Glavač, D., Farrar, G. J., Ayuso, C., Liskova, P., Dudakova, L., Vajter, M., … Cremers, F. P. M. (2024). Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules, 14(3), 367. https://doi.org/10.3390/biom14030367
Authors:
Rebekkah J. Hitti-Malin
Daan M. Panneman
Zelia Corradi
Erica G. M. Boonen
Galuh Astuti
Claire-Marie Dhaenens
Heidi Stöhr
Bernhard H. F. Weber
Dror Sharon
Eyal Banin
Marianthi Karali
Sandro Banfi
Tamar Ben-Yosef
Damjan Glavač
G. Jane Farrar
Carmen Ayuso
Petra Liskova
Lubica Dudakova
Marie Vajter
Monika Ołdak
Jacek P. Szaflik
Anna Matynia
Michael B. Gorin
Kati Kämpjärvi
Miriam Bauwens
Elfride De Baere
Carel B. Hoyng
Catherina H. Z. Li
Caroline C. W. Klaver
Chris F. Inglehearn
Kaoru Fujinami
Carlo Rivolta
Rando Allikmets
Jana Zernant
Winston Lee
Osvaldo L. Podhajcer
Ana Fakin
Jana Sajovic
Alaa AlTalbishi
Sandra Valeina
Gita Taurina
Andrea L. Vincent
Lisa Roberts
Raj Ramesar
Giovanna Sartor
Elena Luppi
Susan M. Downes
L. Ingeborgh van den Born
Terri L. McLaren
John N. De Roach
Tina M. Lamey
Jennifer A. Thompson
Fred K. Chen
Anna M. Tracewska
Smaragda Kamakari
Juliana Maria Ferraz Sallum
Hanno J. Bolz
Hülya Kayserili
Susanne Roosing
Frans P. M. Cremers
Affiliated Authors:
Rando Allikmets
Jana Zernant
Winston Lee
Columbia Affiliation:
Author Keywords:
maculopathies
macula
retinal
inherited
sequencing
penetrance
elink
Publication Type:
Article
Unique ID:
10.3390/biom14030367
PMID:
38540785
DOI:
10.3390/biom14030367
Journal:
Biomolecules
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
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Record Created: