Margriet van Kogelenberg

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Caroline F. Wright, Tomas Fitzgerald, Wendy D. Jones et al. · The Lancet · 2014 · 785 citations · Full text

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang, Bryan Howie, Shane McCarthy et al. · Nature Communications · 2015 · 374 citations · Full text

The UK10K project identifies rare variants in health and disease

Klaudia Walter, Josine L. Min, Jie Huang et al. · Kölner Universitäts PublikationsServer (Universität zu Köln) · 2015 · 299 citations · Full text

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Zandra A. Jenkins, Margriet van Kogelenberg, Tim Morgan et al. · Nature Genetics · 2008 · 195 citations

Somatic Variant, Cancer Pathology, Mendelian Disorder +9

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Dorien Lugtenberg, Tjitske Kleefstra, Astrid Oudakker et al. · European Journal of Human Genetics · 2008 · 148 citations · Full text

Structural Variation, Mecp2 Duplications, Mendelian Disorder +10