Stefan H. Lelieveld
ENPICOM (Netherlands)(NL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cystic Fibrosis Research Advances, Immunodeficiency and Autoimmune Disorders, Cancer Genomics and Diagnostics
Most-Cited Works
- → Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
- → Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability(2016)460 cited
- → Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions(2015)228 cited
- → YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction(2017)165 cited
- → Diagnostic exome sequencing in 266 Dutch patients with visual impairment(2017)150 cited
- → The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands(2016)145 cited
- → Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes(2017)109 cited
- → Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies(2019)84 cited
- → Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability(2017)81 cited
- → Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease(2018)78 cited