Liesbeth Spruijt

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

Robbert D.A. Weren, Marjolijn J. L. Ligtenberg, C. Marleen Kets et al. · Nature Genetics · 2015 · 379 citations

Life Sciences, Genetics, Molecular Genetics +17

Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

Gavin Hudson, Valério Carelli, Liesbeth Spruijt et al. · The American Journal of Human Genetics · 2007 · 356 citations · Full text

Medicine, Genetics, Molecular Genetics +16

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Kornelia Neveling, Ilse Feenstra, Christian Gilissen et al. · Human Mutation · 2013 · 339 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Christian Gilissen, Heleen H. Arts, Alexander Hoischen et al. · The American Journal of Human Genetics · 2010 · 279 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Cancer Risks for <i>PMS2</i>-Associated Lynch Syndrome

Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops et al. · Journal of Clinical Oncology · 2018 · 210 citations · Full text

Life Sciences, Genetics, Oncology +17