Koenraad Devriendt
Rambam Health Care Campus(IL)Center for Human Genetics(US)KU Leuven(BE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics, Congenital Heart Disease Studies
Most-Cited Works
- → Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes(2008)806 cited
- → GATA3 haplo-insufficiency causes human HDR syndrome(2000)649 cited
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 cited
- → Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome(2011)598 cited
- → De novo mutations of SETBP1 cause Schinzel-Giedion syndrome(2010)506 cited
- → Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing(2016)464 cited