Concepedia

Saskia M. Maas

SM

Statistics

Publications

37

Citations

2.9K

H-Index

30

Active since

1995

Affiliations

Amsterdam UMC Location University of Amsterdam(Current)

University of Amsterdam

Radboud University Nijmegen

Radboud University Medical Center

Leiden University Medical Center

Saskia M. Maas is an author at Amsterdam UMC Location University of Amsterdam specializing in genetics, human genetics, and life sciences.

Publications per year

1995–2024

37

Publications

37

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 244 citations

, , +10

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

Julie Soblet, J. Kangas, Marjut Nätynki et al. · Journal of Investigative Dermatology · 2016 · 244 citations

, , +6

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

, , +17

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

Jet Bliek, Paulien A. Terhal, Marie-José van den Bogaard et al. · The American Journal of Human Genetics · 2006 · 212 citations · Full text

, , +8

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns et al. · Biological Psychiatry · 2018 · 182 citations · Full text

, , +14

1–5 of 37