Daniëlle Majoor‐Krakauer

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

Ingrid M.B.H. van de Laar, Rogier A. Oldenburg, Gerard Pals et al. · Nature Genetics · 2011 · 674 citations

Medicine, Cardiology, Molecular Genetics +11

Von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

Bernd R. Seizinger, Guy A. Rouleau, Laurie J. Ozelius et al. · Nature · 1988 · 670 citations

Medicine, Molecular Biology, Molecular Genetics +14

PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs

Egbert Bakker, Nicole Goor, Klaus Wrogemann et al. · The Lancet · 1985 · 376 citations

Medicine, Genetics, Molecular Genetics +7

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy

Jaap I. van Waning, Kadir Çalişkan, Yvonne M. Hoedemaekers et al. · Journal of the American College of Cardiology · 2018 · 315 citations · Full text

Medicine, Cardiology, Genetics +15

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 · 299 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11