Emmelien Aten
Leiden University Medical Center(NL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Congenital Heart Disease Studies
Most-Cited Works
- → Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited
- → High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening(2009)481 cited
- → Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome(2012)349 cited
- → Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients(2013)218 cited
- → The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families(2016)118 cited
- → The prevalence of genetic diagnoses in fetuses with severe congenital heart defects(2020)98 cited
- → Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2(2010)80 cited
- → Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants inTPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)(2013)80 cited
- → From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care(2019)59 cited
- → Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene(2010)57 cited