Joris A. Veltman
Human Genome Sciences (United States)(US)Edinburgh Cancer Research(GB)Newcastle University(GB)University of Edinburgh(GB)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Chromosomal and Genetic Variations, Cancer Genomics and Diagnostics
Most-Cited Works
- → Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability(2012)1,570 cited
- → Mutations in a new member of the chromodomain gene family cause CHARGE syndrome(2004)1,269 cited
- → Genome sequencing identifies major causes of severe intellectual disability(2014)1,130 cited
- → De novo mutations in human genetic disease(2012)874 cited
- → A de novo paradigm for mental retardation(2010)851 cited
- → Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes(2008)806 cited
- → Genetic studies in intellectual disability and related disorders(2015)