Grétel Oudesluijs

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

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

Ellen A. Croonen, Willy M. Nillesen, Kyra E. Stuurman et al. · European Journal of Human Genetics · 2013 · 141 citations · Full text

Developmental Anomaly, Abnormal Ultrasound Findings, Noonan Syndrome Genes +7

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

Malgorzata I. Srebniak, Marjan Boter, Grétel Oudesluijs et al. · European Journal of Human Genetics · 2011 · 107 citations · Full text

Genetic Testing, Prenatal Genetic Testing, Rapid Prenatal Diagnosis +12

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

Malgorzata I. Srebniak, Marjan Boter, Grétel Oudesluijs et al. · Molecular Cytogenetics · 2012 · 75 citations · Full text

Phenotypic variability of atypical 22q11.2 deletions not including<i>TBX1</i>

Judith M.A. Verhagen, Karin E. M. Diderich, Grétel Oudesluijs et al. · American Journal of Medical Genetics Part A · 2012 · 67 citations

Interstitial Deletions, Genetics, Pathology +16