Jordi Corominas Galbany

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

E. van Wijk, T. Peters, H. Kremer, 2022, NPJ genomic medicine.

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Marcelo P. Segura-Lepe, A. J. Slater, Dajiang J. Liu, 2019, Nature Genetics.

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

E. van Wijk, H. Kremer, F. Cremers, 2022, npj Genomic Medicine.