Search | Genome Research

Your search for returned 2 results

Research

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches

Merel Stemerdink
Tabea Riepe
Nick Zomer
Renee Salz
Michael Kwint
Jaap Oostrik Raoul Timmermans Barbara Ferrari Stefano Ferrari Alfredo Dueñas Rey Emma Delanote Suzanne E. de Bruijn Hannie Kremer Susanne Roosing Frauke Coppieters Alexander Hoischen
... [+11 authors] ...,
Frans P.M. Cremers
Peter A.C. ‘t Hoen
Erwin van Wijk
Erik de Vrieze

First Published March 4, 2025

Method

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

Riccardo Sangermano
Mubeen Khan
Stéphanie S. Cornelis
Valerie Richelle
Silvia Albert
Alejandro Garanto Duaa Elmelik Raheel Qamar
... [+3 authors] ...,
Dorien Lugtenberg
L. Ingeborgh van den Born
Rob W.J. Collin
Frans P.M. Cremers

First Published November 21, 2017