Marjon A. van Slegtenhorst

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy

Jaap I. van Waning, Kadir Çalişkan, Yvonne M. Hoedemaekers et al. · Journal of the American College of Cardiology · 2018 · 315 citations · Full text

Medicine, Cardiology, Genetics +15

Perturbed Length-Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations

Vasco Sequeira, Paul J.M. Wijnker, Louise L.A.M. Nijenkamp et al. · Circulation Research · 2013 · 196 citations · Full text

Life Sciences, Cardiology, Molecular Biology +13

Characterization of the Cytosolic Tuberin-Hamartin Complex

Mark Nellist, Marjon A. van Slegtenhorst, Miriam Goedbloed et al. · Journal of Biological Chemistry · 1999 · 179 citations · Full text

Life Sciences, Genetics, Molecular Biology +11

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Margot A. Cousin, Blake A. Creighton, Keith A. Breau et al. · Nature Genetics · 2021 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A gene from the Xp22.3 region shares homology with voltage-gated chloride channels

Marjon A. van Slegtenhorst, Maria T. Bassl, Martin C. Wapenaar et al. · Human Molecular Genetics · 1994 · 106 citations

Life Sciences, Genetics, Molecular Genetics +15