Jolien S. Klein Wassink‐Ruiter
University Medical Center Groningen(NL)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, Autism Spectrum Disorder Research
Most-Cited Works
- → GRIN2A -related disorders: genotype and functional consequence predict phenotype(2018)223 cited
- → Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders(2016)166 cited
- → De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay(2015)157 cited
- → Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families(2016)140 cited
- → Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity(2016)130 cited
- → Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons(2019)88 cited
- → Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature(2016)60 cited
- → MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions(2011)57 cited
- → TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila(2021)45 cited
- → De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment(2018)43 cited