Saskia M. Maas
Amsterdam University Medical Centers(NL)University of Amsterdam(NL)
Publications by Year
Research Areas
Epigenetics and DNA Methylation, Genetics and Neurodevelopmental Disorders, Genetic Syndromes and Imprinting, Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics
Most-Cited Works
- → Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement(2018)586 cited
- → Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome(2012)243 cited
- → Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations(2016)236 cited
- → Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients(2013)218 cited
- → Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype(2006)212 cited
- → SYNGAP1 encephalopathy(2018)209 cited
- → Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP