Concepedia
Statistics
Publications
20
Citations
2.4K
H-Index
18
Active since
1986
Affiliations
Ghent University Hospital(Current)
Radboud University Nijmegen
University of Washington
Howard Hughes Medical Institute
Radboud University Medical Center
Karen Buysse is an author at Ghent University Hospital specializing in genetics, life sciences, and molecular genetics.
Publications per year
1986–2013
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 · 811 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
Heather C. Mefford, Hiltrud Muhle, P Ostertag et al. · PLoS Genetics · 2010 · 478 citations · Full text
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse et al. · Nature Genetics · 2012 · 212 citations · Full text
Life Sciences, Genetics, Molecular Biology +12
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome
Karen Buysse, Moniek Riemersma, Gareth T. Powell et al. · Human Molecular Genetics · 2013 · 141 citations · Full text
Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience
Karen Buysse, Barbara Delle Chiaie, Rudy Van Coster et al. · European Journal of Medical Genetics · 2009 · 140 citations
Medicine, Molecular Biology, Molecular Genetics +6
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