Marijke Bauters
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Ubiquitin and proteasome pathways, Genomics and Rare Diseases
Most-Cited Works
- → Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males(2005)624 cited
- → Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia(2007)276 cited
- → Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation(2008)217 cited
- → Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage ofXLMRgenes(2007)175 cited
- → Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair(2008)128 cited
- → Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes(2007)69 cited
- → De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation(2014)60 cited
- → A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency(2017)57 cited
- → Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1(2012)48 cited
- → Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region(2007)48 cited