Dorien Lugtenberg
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetic and Kidney Cyst Diseases, Chromosomal and Genetic Variations
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
- → A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases(2013)338 cited
- → Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders(2016)196 cited
- → Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects(2012)180 cited
- → ABCA4midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease(2017)171 cited
- → Diagnostic exome sequencing in 266 Dutch patients with visual impairment(2017)150 cited