Marga Schepens

The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans

Vera M. Kalscheuer, Edwin C.M. Mariman, Marga Schepens et al. · Nature Genetics · 1993 · 240 citations

Signal Transduction, Growth Hormone, Human Growth +8

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

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Lisenka E.L.M. Vissers, Monica Bonetti, Jeroen Overman et al. · European Journal of Human Genetics · 2014 · 75 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +8

Maternal-Specific Methylation of the HumanIGF2RGene Is Not Accompanied by Allele-Specific Transcription

A. Riesewijk, Marga Schepens, Thomas R. Welch et al. · Genomics · 1996 · 71 citations · Full text

Developmental Biology, Epigenetic Change, Genetics +10

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun et al. · Molecular Psychiatry · 2020 · 67 citations · Full text

Setd1a Haploinsufficiency, Developmental Biology, Genetic Disorder +11