Petra de Vries
Publications by Year
Research Areas
Virology and Viral Diseases, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, SARS-CoV-2 and COVID-19 Research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability(2012)1,570 cited
- → A de novo paradigm for mental retardation(2010)851 cited
- → De novo mutations of SETBP1 cause Schinzel-Giedion syndrome(2010)506 cited
- → Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability(2016)460 cited
- → Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta(2011)359 cited
- → De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome(2011)277 cited
- → Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome(2012)240 cited
- → Cantú Syndrome Is Caused by Mutations in ABCC9(2012)166 cited
- → Canine distemper virus in seals(1988)165 cited