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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 30, 2014
The ARID1B phenotype: what we have learned so farGijs W E Santen, Jill Clayton-Smith, Epigenetics|September 27, 2012
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disabilityGijs W E Santen, Marjolein Kriek, Haico van AttikumHuman Mutation|March 10, 2022
Gene-disease relationship evidence: A clinical perspective focusing on ultra-rare diseasesGijs W E Santen, Harry G Leitch, Jan CobbenPrenatal Diagnosis|June 21, 2023
Prenatal testing for imprinting disorders: A laboratory perspectiveJasmin Beygo, Silvia Russo, Pierpaola Tannorella, et al.Human Mutation|May 9, 2019
A functional assay to classify ZBTB24 missense variants of unknown significanceHaoyu Wu, Kelly K D Vonk, Silvère M van der Maarel, et al.Journal of Genetic Counseling|February 28, 2026
Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysisMaayke A de Koning, Sarah Long, Holly E Evans, et al.Journal of Medical Genetics|September 14, 2012
Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemiaMaartje Nielsen, Clementien L Vermont, Emmelien Aten, et al.Progress in Neuro-Psychopharmacology & Biological Psychiatry|August 28, 2018
The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behaviorJeffrey J Moffat, Eui-Man Jung, Minhan Ka, et al.Human Mutation|November 22, 2012
Exome sequencing identifies a branch point variant in Aarskog-Scott syndromeEmmelien Aten, Yu Sun, Rowida Almomani, et al.American Journal of Medical Genetics. Part A|December 23, 2024
A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type IIMackenna E Schouw, Claudia A L Ruivenkamp, Tamara T Koopmann, et al.Pageof 9