Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes

de Bruijn, Suzanne E. ✉; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S.; Berger, Wolfgang; Farrar, G. Jane; Kovács, Árpád Ferenc [Kovács, Árpád Ferenc (genetika, immunol...), author] II. Department of Pediatrics (SU / FM / C); Fajardy, Isabelle; Hitti-Malin, Rebekkah J.; Weisschuh, Nicole; Weener, Marianna E.; Sharon, Dror; Pennings, Ronald J.E.; Haer-Wigman, Lonneke; Hoyng, Carel B.; Nelen, Marcel R.; Vissers, Lisenka E.L.M.; van den Born, L. Ingeborgh; Gilissen, Christian; Cremers, Frans P.M.; Hoischen, Alexander; Neveling, Kornelia; Roosing, Susanne

English Article (Journal Article) Scientific
Published: GENETICS IN MEDICINE 1098-3600 1530-0366 25 (3) Paper: 100345 , 12 p. 2023
  • SJR Scopus - Genetics (clinical): D1
Identifiers
Fundings:
  • (PD_21 138521)
Citation styles: IEEEACMAPAChicagoHarvardCSLCopyPrint
2025-04-16 20:45