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K. Buysse · SciRah

Researcher profile · Semantic Scholar

K. Buysse

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K. Buysse — researcher profile on SciRah

h-index: 20
Works: 41
Citations: 2,739

Most-cited papers

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
H. Mefford, A. Sharp, C. Baker, A. Itsara +80 more
2008New England Journal of Medicine706 citations Open access
Semantic Scholar
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
H. Mefford, H. Muhle, P. Ostertag, S. von Spiczak +13 more
2010PLoS Genetics473 citations Open access
Semantic Scholar
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
B. Menten, N. Maas, B. Thienpont, K. Buysse +16 more
2006Journal of Medical Genetics404 citations Open access
Semantic Scholar
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
T. Roscioli, E. Kamsteeg, K. Buysse, I. Maystadt +31 more
2012Nature Genetics188 citations Open access
Semantic Scholar
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome
K. Buysse, Moniek Riemersma, Gareth T. Powell, J. van Reeuwijk +13 more
2013Human Molecular Genetics138 citations Open access
Semantic Scholar
Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.
K. Buysse, Barbara Delle Chiaie, R. Van Coster, B. Loeys +4 more
2009European Journal of Medical Genetics107 citations Open access
Semantic Scholar
Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening
B. D'Haene, Catia Attanasio, D. Beysen, Josée Dostie +17 more
2009PLoS Genetics96 citations Open access
Semantic Scholar
arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays
B. Menten, F. Pattyn, K. De Preter, Piet Robbrecht +11 more
2005BMC Bioinformatics94 citations Open access
Semantic Scholar
Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples
B. Menten, K. Swerts, B. D. Chiaie, S. Janssens +3 more
2009BMC Medical Genetics74 citations Open access
Semantic Scholar
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
B. Menten, K. Buysse, F. Zahir, J. Hellemans +10 more
2007Journal of Medical Genetics73 citations Open access
Semantic Scholar
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.
K. Buysse, W. Reardon, L. Mehta, T. Costa +10 more
2009European Journal of Medical Genetics59 citations
Semantic Scholar
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy
A. M. B. Collie, M. Landsverk, E. Ruzzo, H. Mefford +13 more
2009Journal of Medical Genetics46 citations Open access
Semantic Scholar
Copy number alterations and copy number variation in cancer: close encounters of the bad kind
F. Speleman, C. Kumps, K. Buysse, B. Poppe +2 more
2009Cytogenetic and Genome Research36 citations
Semantic Scholar
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
M. Landsverk, E. Ruzzo, H. Mefford, K. Buysse +16 more
2009Human Molecular Genetics31 citations Open access
Semantic Scholar
Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
K. Buysse, B. Menten, A. Oostra, S. Tavernier +2 more
2008American Journal of Medical Genetics. Part A31 citations
Semantic Scholar
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
A. Kuechler, K. Buysse, J. Clayton-Smith, C. Le Caignec +7 more
2011American Journal of Medical Genetics. Part A28 citations
Semantic Scholar
Unusual 8p inverted duplication deletion with telomere capture from 8q.
K. Buysse, F. Antonacci, B. Callewaert, B. Loeys +5 more
2009European Journal of Medical Genetics27 citations Open access
Semantic Scholar
Reversibility after female sterilization
W. Boeckx, S. Gordts, K. Buysse, Ivo Brosens
198625 citations
Semantic Scholar
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene
K. Buysse, S. Vergult, S. Mussche, C. C. Groote +4 more
2010American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type.
B. Menten, K. Buysse, J. Vandesompele, E. De Smet +3 more
2005European Journal of Medical Genetics21 citations
Semantic Scholar
Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12
B. Menten, K. Buysse, S. Vermeulen, V. Meersschaut +5 more
2007European Journal of Medical Genetics19 citations Open access
Semantic Scholar
Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture.
K. Buysse, L. Beulen, I. Gomes, C. Gilissen +10 more
2013Clinical Biochemistry18 citations
Semantic Scholar
Mapping of 5q35 chromosomal rearrangements within a genomically unstable region
K. Buysse, A. Crepel, B. Menten, F. Pattyn +9 more
2008Journal of Medical Genetics11 citations
Semantic Scholar
Reversibility after female sterilization
W. Boeckx, S. Gordts, K. Buysse, Ivo A. Brosens
1987British Journal of Obstetrics and Gynaecology10 citations
Semantic Scholar
Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA
K. Buysse, J. de Ligt, I. Janssen, B. V. van Bon +7 more
2014Prenatal Diagnosis3 citations
Semantic Scholar
Molecular karkyotyping detecs structural low grade mosaics in 4 % of patietns with idiopathic mental retardation and multiple congenital aberrations
N. Maas, B. Menten, C. Melotte, B. Thienpont +9 more
20052 citations
Semantic Scholar
Genetic testing and chromosomal disorders
J. Vermeesch, K. Buysse
20120 citations
Semantic Scholar
4 Cytogenetic Testing and Chromosomal
Disorders Robert Vermeesch, K. Buysse
20120 citations
Semantic Scholar
Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting
S. Vergult, K. Buysse, B. D. Chiaie, S. Janssens +5 more
20110 citations
Semantic Scholar
Contents Vol. 123, 2008
A. C. Lionel, C. Marshall, T. Azam, M. Shago +147 more
2009Cytogenetic and Genome Research0 citations Open access
Semantic Scholar
Molecular karyotyping: a powerful tool for the study of genomic defects in patients with mental retardation
K. Buysse
20090 citations
Semantic Scholar
Mapping of 5q35 chromosomal rearrangements within a genomically unstable region (vol 45, pg 672, 2008)
K. Buysse, A. Crepel, B. Menten, F. Pattyn +9 more
20090 citations
Semantic Scholar
Exploring the contribution of Conserved Non-Coding sequences (CNCs) to Blepharophimosis Syndrome (BPES)
B. D'Haene, Catia Attanasio, M. Friedli, D. Beysen +17 more
20080 citations
Semantic Scholar
RANBP17-TLX3: A hot spot region for both constitutional and acquired rearrangements
K. Buysse, B. Menten, F. Antonacci, J. Veltman +4 more
20070 citations
Semantic Scholar
Combined approach of MLPA and array CGH for the identification of genomic rearrangements encompassing and located outside the SHOX transcription unit
B. D'Haene, C. Dewinter, B. Menten, M. Vandenheuvel +8 more
20060 citations
Semantic Scholar
Haploinsufficiency for LEMD2: what are the phenotypes?
J. Hellemans, B. Menten, K. Buysse, P. Debeer +17 more
20060 citations
Semantic Scholar
ArrayCGH analysis detects cryptic chromosomal aberrations in more than twenty percent of patients with idiopathic mental retardation and multiple congenital anomalies
N. Maas, B. Menten, C. Melotte, B. Thienpont +9 more
20050 citations
Semantic Scholar
P28: array-CGHbase V2: an analysis platform for expression, CGH and SNP microarrays
B. Menten, F. Pattyn, K. De Preter, Piet Robbrecht +6 more
20050 citations
Semantic Scholar
ArrayCGH detects mosaics in similar to 4% of patients with MR/CA
N. Maas, B. Menten, C. Melotte, B. Thienpont +9 more
20050 citations
Semantic Scholar
O4: Detection of structural low-grade mosaicism by array CGH
B. Thienpont, N. Maas, B. Menten, K. Buysse +16 more
20050 citations
Semantic Scholar
O3: Array CGH findings in a large series of 150 patients with idiopathic mental retardation and congenital anomalies: unexpected findings and implications for future routine diagnostic screening
B. Menten, K. Buysse, N. Maas, B. Thienpont +16 more
20050 citations
Semantic Scholar

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