Daphne Stemkens

Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins

Daphne Stemkens, Frank J. Broekmans, P.M.M. Kastrop et al. · American Journal of Medical Genetics Part A · 2007 · 87 citations

Life Sciences, Genetics, Molecular Genetics +17

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

Olga S. Koutsopoulos, Christine Kretz, Claudia M Weller et al. · European Journal of Human Genetics · 2012 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Is there an influence of X‐chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases

Daphne Stemkens, T Roza, L Verrij et al. · Clinical Genetics · 2006 · 58 citations

Life Sciences, Genetics, Molecular Genetics +16

How to inform at‐risk relatives? Attitudes of 1379 Dutch patients, relatives, and members of the general population

Lieke M. van den Heuvel, Daphne Stemkens, Wendy A.G. van Zelst–Stams et al. · Journal of Genetic Counseling · 2019 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research

K. Joeri van der Velde, Gurnoor Singh, Rajaram Kaliyaperumal et al. · Scientific Data · 2022 · 33 citations · Full text

Computing, Bioinformatics, Biomedical Informatics +17