Sanne K Verbakel

Years Active: 2019-2020
Publications (10 Years): 2

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

Publications

Guillaume Olivier, Marta Corton, Daniela Intartaglia, Sanne K Verbakel, Panagiotis I Sergouniotis, Guylène Le Meur, Claire-Marie Dhaenens, Hélène Naacke, Almudena Avila-Fernández, Carel B Hoyng, Jeroen Klevering, Béatrice Bocquet, Agathe Roubertie, Audrey Sénéchal, Sandro Banfi, Agnès Muller, Christian L Hamel, Graeme C Black, Ivan Conte, Susanne Roosing, Xavier Zanlonghi, Carmen Ayuso, Isabelle Meunier, Gaël Manes
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. Journal of medical genetics 58 (8) (2020)
Sanne K Verbakel, Zeinab Fadaie, B Jeroen Klevering, Maria M van Genderen, Ilse Feenstra, Frans P M Cremers, Carel B Hoyng, Susanne Roosing
The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy. Molecular genetics & genomic medicine 7 (6) (2019)

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