Charles H.C.M. Buys

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

Robert M.W. Hofstra, Rudy M. Landsvater, Isabella Ceccherini et al. · Nature · 1994 · 1.2K citations

Endocrine Oncology, Oncogenic Agent, Genetics +6

In Vitro Fertilization with Preimplantation Genetic Screening

Sebastiaan Mastenbroek, Moniek Twisk, Jannie van Echten‐Arends et al. · New England Journal of Medicine · 2007 · 780 citations · Full text

Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer

Klaas Kok, Jan Osinga, B. Carritt et al. · Nature · 1987 · 394 citations

Chromatin, Genome Instability, Medicine +10

Association of Hereditary Nonpolyposis Colorectal Cancer–Related Tumors Displaying Low Microsatellite Instability with MSH6 Germline Mutations

Ying Wu, Maran J.W. Berends, Rob G.J. Mensink et al. · The American Journal of Human Genetics · 1999 · 308 citations · Full text

Cancer Pathology, Medicine, Genetics +8

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