Marsha Voorendt

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

Marjolijn J. L. Ligtenberg, Roland P. Kuiper, Tsun Leung Chan et al. · Nature Genetics · 2008 · 819 citations

Life Sciences, Genetics, Molecular Genetics +11

Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

Susanne T. de Bot, Sascha Vermeer, Wendy Buijsman et al. · Journal of Neurology · 2013 · 40 citations · Full text

Life Sciences, Genetics, Neurology +9

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

Serwet Demirdas, Lisa M. van den Bersselaar, Rosan Lechner et al. · Circulation Genomic and Precision Medicine · 2024 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations

Astrid A. Out, Ivonne J.H.M. van Minderhout, Nienke van der Stoep et al. · Familial Cancer · 2015 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16