Femke A.T. de Vries

Mouse <i>Sycp1</i> functions in synaptonemal complex assembly, meiotic recombination, and XY body formation

Femke A.T. de Vries, Esther de Boer, Mike van den Bosch et al. · Genes & Development · 2005 · 461 citations · Full text

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Marije Meuwissen, Rachel Schot, Sofija Buta et al. · The Journal of Experimental Medicine · 2016 · 278 citations · Full text

Disease Etiology, Genetics, Pseudo-torch Syndrome +17

Abnormal non-invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype

Malgorzata I. Srebniak, Karin E. M. Diderich, Petra Noomen et al. · Ultrasound in Obstetrics and Gynecology · 2014 · 69 citations · Full text

Mosaic Male Karyotype, Genetic Testing, Fertility +20

The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies

Malgorzata I. Srebniak, Maarten F. C. M. Knapen, Marike Polak et al. · Human Mutation · 2017 · 35 citations · Full text

Genetic Testing, Genetics, Diagnosis +17

Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound

M. C. de Wit, Ferry Boekhorst, Grazia M.S. Mancini et al. · Prenatal Diagnosis · 2017 · 31 citations