Publications:

An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.

Plos Genetics

Mäkeläinen, Suvi S; Gòdia, Marta M; Hellsand, Minas M; Viluma, Agnese A; Hahn, Daniela D; Makdoumi, Karim K; Zeiss, Caroline J CJ; Mellersh, Cathryn C; Ricketts, Sally L SL; Narfström, Kristina K; Hallböök, Finn F; Ekesten, Björn B; Andersson, Göran G; Bergström, Tomas F TF

Publication Date: 2019-03

Variant appearance in text: USH2A: 7244C>T

PubMed Link: 30889179

Variant Present in the following documents:

• Main text
• pgen.1007873.pdf

View BVdb publication page

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports

Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A

Publication Date: 2018-11-21

Variant appearance in text: USH2A: 7244C>T; Ser2415Leu

PubMed Link: 30464253

Variant Present in the following documents:

• 41598_2018_35506_MOESM5_ESM.xlsx, sheet 5
• 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page