Joan N. R. Kromosoeto

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

Rick van Minkelen, Yolande van Bever, Joan N. R. Kromosoeto et al. · Clinical Genetics · 2013 · 95 citations

Medicine, Molecular Genetics, Neurology +14

A DGGE system for comprehensive mutation screening of<i>BRCA1</i>and<i>BRCA2</i>: application in a Dutch cancer clinic setting

Annemarie H. van der Hout, Ans M.W. van den Ouweland, Rob B. van der Luijt et al. · Human Mutation · 2006 · 84 citations

Life Sciences, Genetics, Molecular Genetics +17

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

Karin E. M. Diderich, Kathleen Romijn, Marieke Joosten et al. · Acta Obstetricia Et Gynecologica Scandinavica · 2020 · 49 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

Monique M van Veghel-Plandsoen, Joan N. R. Kromosoeto, Mariska C den Ridder-Klünnen et al. · European Journal of Human Genetics · 2011 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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

Medicine, Genetics, Obstetrics +16