Krista K. van Dijk-Bos

<i>TBX4</i> mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

Wilhelmina S. Kerstjens‐Frederikse, Ernie M.H.F. Bongers, Marcus T.R. Roofthooft et al. · Journal of Medical Genetics · 2013 · 202 citations · Full text

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump, Omid Jazayeri, Krista K. van Dijk-Bos et al. · BMC Medical Genomics · 2015 · 99 citations · Full text

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

Lennart Johansson, Freerk van Dijk, Eddy N. de Boer et al. · Human Mutation · 2016 · 92 citations · Full text

Anomaly Detection, Engineering, Genetics +20

Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands

Wing Yan Yuen, Henny H. Lemmink, Krista K. van Dijk-Bos et al. · British Journal of Dermatology · 2011 · 44 citations