Hans Kristian Ploos van Amstel

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

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

Marie‐José H. van den Boogaard, M. Dorland, Frits A. Beemer et al. · Nature Genetics · 2000 · 584 citations

Developmental Anomaly, Orofacial Clefting, Developmental Biology +10

Clinical Screening as Compared with DNA Analysis in Families with Multiple Endocrine Neoplasia Type 2A

Cornelis J.M. Lips, Rudy M. Landsvater, Jo W.M. Höppener et al. · New England Journal of Medicine · 1994 · 455 citations

Bleeding in carriers of hemophilia

Iris Plug, Eveline P. Mauser‐Bunschoten, Annette Bröcker‐Vriends et al. · Blood · 2006 · 361 citations · Full text

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping

Paula J. P. de Vree, Elzo de Wit, Monique van de Heijning et al. · Nature Biotechnology · 2014 · 294 citations

Long-read Sequencing, Sequencing, Functional Genomics +13