Saskia M. Maas

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

Jet Bliek, Gaetano Verde, Jonathan L A Callaway et al. · European Journal of Human Genetics · 2008 · 232 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study

M. E. Doornbos, Saskia M. Maas, Jordan McDonnell et al. · Human Reproduction · 2007 · 204 citations · Full text

Social Sciences, Child Health, Fertility +16

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra et al. · European Journal of Human Genetics · 2016 · 148 citations · Full text

Medicine, Genetics, Molecular Genetics +14

High rate of mosaicism in individuals with Cornelia de Lange syndrome

Sylvia Huisman, E. Redeker, Saskia M. Maas et al. · Journal of Medical Genetics · 2013 · 134 citations

Life Sciences, Genetics, Molecular Genetics +17

The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?

Daniela Q.C.M. Barge‐Schaapveld, Saskia M. Maas, Abeltje M. Polstra et al. · American Journal of Medical Genetics Part A · 2011 · 119 citations

Medicine, Pediatrics, Autism Spectrum Disorders +10