Kathelijn Keymolen

The mutation spectrum in RECQL4 diseases

H. Annika Siitonen, Jenni Sotkasiira, Martine Biervliet et al. · European Journal of Human Genetics · 2008 · 230 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +6

Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders

Annick Vogels, Jenneke van den Ende, Kathelijn Keymolen et al. · European Journal of Human Genetics · 2003 · 184 citations · Full text

Clinical Epidemiology, Pediatrics, Prader–willi Syndrome +4

Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter

Maria Kirchhoff, Anne‐Marie Bisgaard, Radka Stoeva et al. · American Journal of Medical Genetics Part A · 2009 · 175 citations

Gene Deletion Data, Developmental Biology, Array‐cgh Characterization +15

A proposal for reproductive counselling in carriers of Robertsonian translocations: 10 years of experience with preimplantation genetic diagnosis

Kathelijn Keymolen, C. Staessen, Willem Verpoest et al. · Human Reproduction · 2009 · 112 citations

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

Paul Brady, Barbara Delle Chiaie, Gabrielle Christenhusz et al. · Genetics in Medicine · 2013 · 107 citations · Full text

Genetic Testing, Prenatal Genetic Testing, Clinical Utility +11