Laura Whelan

Publication Activity (10 Years)

Years Active: 2021-2022
Publications (10 Years): 4

Top Topics

Mitochondrial Dna

Top Venues

NPJ genomic medicine

Journal of medical genetics

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Hedwig M Velde, Janine Reurink, Sebastian Held, Catherina H Z Li, Suzanne Yzer, Jaap Oostrik, Jack Weeda, Lonneke Haer-Wigman, Helger G Yntema, Susanne Roosing, Laurenz J B Pauleikhoff, Clemens A Lange, Laura Whelan, Adrian Dockery, Julia Zhu, David J Keegan, Gwyneth Jane Farrar, Hannie Kremer, Cornelis P Lanting, Markus Damme, Ronald J E Pennings
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants. Human genetics 141 (11) (2022)
Zeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, Adrian Dockery, Zelia Corradi, Christian Gilissen, Lonneke Haer-Wigman, Jordi Corominas, Galuh D N Astuti, Laura de Rooij, L Ingeborgh van den Born, Caroline C W Klaver, Carel B Hoyng, Niamh Wynne, Emma S Duignan, Paul F Kenna, Frans P M Cremers, G Jane Farrar, Susanne Roosing
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases. NPJ genomic medicine 6 (1) (2021)
Zeinab Fadaie, Laura Whelan, Adrian Dockery, Catherina H Z Li, L Ingeborgh van den Born, Carel B Hoyng, Christian Gilissen, Christian Gilissen, Charlie F Rowlands, Roly Megaw, Anne K Lampe, Frans P M Cremers, Gwyneth Jane Farrar, Jamie M Ellingford, Paul F Kenna, Susanne Roosing
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa. Journal of medical genetics (2021)
Adrian Dockery, Laura Whelan, Pete Humphries, G Jane Farrar
Next-Generation Sequencing Applications for Inherited Retinal Diseases. International journal of molecular sciences 22 (11) (2021)