Koenraad Devriendt

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 803 citations · Full text

GATA3 haplo-insufficiency causes human HDR syndrome

Hilde Van Esch, Peter Groenen, M. Andrew Nesbit et al. · Nature · 2000 · 645 citations

Autoimmune Disease, Genetic Disorder, Genetics +5

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Anne S. Bassett, Donna M. McDonald‐McGinn, Koenraad Devriendt et al. · The Journal of Pediatrics · 2011 · 596 citations · Full text

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen, Bregje W.M. van Bon, Christian Gilissen et al. · Nature Genetics · 2010 · 504 citations

Mendelian Disorder, Genetic Disorder, Genetics +3