Raymon Vijzelaar

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Nils Krone, Nicole Reisch, Jan Idkowiak et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 166 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Detailed analysis of 22q11.2 with a high density MLPA probe set

G R Jalali, Jacob Vorstman, Ab Errami et al. · Human Mutation · 2007 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity

André B. P. Kuilenburg, Judith Meijer, Adri N. Mul et al. · Human Genetics · 2010 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Molecular profiling of invasive breast cancer by multiplex ligation-dependent probe amplification-based copy number analysis of tumor suppressor and oncogenes

Cathy B. Moelans, Roel A. de Weger, Hanneke N. Monsuur et al. · Modern Pathology · 2010 · 95 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +16