Carel Meijers

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Robert M.W. Hofstra, Jan Osinga, Gita Tan-Sindhunata et al. · Nature Genetics · 1996 · 298 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +11

Validation of 70-gene prognosis signature in node-negative breast cancer

Jolien M. Bueno-de-Mesquita, Sabine C. Linn, Richard Keijzer et al. · Breast Cancer Research and Treatment · 2008 · 176 citations · Full text

Breast Oncology, Oncology, Medicine +7

Perturbations of Vascular Homeostasis and Aortic Valve Abnormalities in Fibulin-4 Deficient Mice

Katsuhiro Hanada, Marcel Vermeij, George A. Garinis et al. · Circulation Research · 2007 · 154 citations · Full text

Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems

Alice S. Brooks, Aida M. Bertoli‐Avella, Grzegorz Burzynski et al. · The American Journal of Human Genetics · 2005 · 148 citations · Full text

Developmental Anomaly, Developmental Biology, Neurogenomics +10

Variants in CHEK2 Other than 1100delC Do Not Make a Major Contribution to Breast Cancer Susceptibility

Mieke Schutte, Sheila Seal, Rita Barfoot et al. · The American Journal of Human Genetics · 2003 · 134 citations · Full text

Breast Oncology, Oncology, Engineering +12