K. Buysse

发表

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

C. Baker, N. de Leeuw, M. Fichera, 2008, The New England journal of medicine.

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

Ulrich Stephani, Andre Franke, Heather C. Mefford, 2010, PLoS genetics.

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

K. Buysse, G. Mortier, F. Speleman, 2008, American journal of medical genetics. Part A.

Unusual 8p inverted duplication deletion with telomere capture from 8q.

F. Antonacci, K. Buysse, G. Mortier, 2009, European Journal of Medical Genetics.

Reversibility after female sterilization

K. Buysse, W. Boeckx, I. Brosens, 1986 .

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

G Mortier, Y Moreau, B De Moor, 2006, Journal of Medical Genetics.

Copy number alterations and copy number variation in cancer: close encounters of the bad kind

K. Buysse, F. Speleman, B. Menten, 2009, Cytogenetic and Genome Research.

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

M. Marra, K. Buysse, G. Mortier, 2007, Journal of Medical Genetics.

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

Stylianos E. Antonarakis, Filip Pattyn, Frank Speleman, 2009, PLoS genetics.

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region

F. Antonacci, J. Veltman, K. Buysse, 2008, Journal of Medical Genetics.

4 Cytogenetic Testing and Chromosomal

K. Buysse, Disorders Robert Vermeesch, 2012 .

Genetic testing and chromosomal disorders

K. Buysse, J. Vermeesch, 2012 .

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene

K. Buysse, F. Speleman, B. Menten, 2010, American journal of medical genetics. Part A.

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type.

Frank Speleman, Björn Menten, Jo Vandesompele, 2005, European journal of medical genetics.

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples

K. Buysse, F. Speleman, B. Menten, 2009, BMC Medical Genetics.

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.

Frank Speleman, Björn Menten, Bart Loeys, 2009, European journal of medical genetics.

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

H. Mefford, E. Eichler, K. Buysse, 2009, Journal of Medical Genetics.

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

K. Buysse, J. Clayton-Smith, G. Mortier, 2011, American journal of medical genetics. Part A.

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

Bart De Moor, Yves Moreau, Jo Vandesompele, 2005, BMC Bioinformatics.

Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.

N. Carter, B. Ng, K. Buysse, 2007, European journal of medical genetics.

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

W. Halliday, K. Buysse, D. Stemple, 2013, Human molecular genetics.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Christian Gilissen, Han G. Brunner, Michael F. Buckley, 2012, Nature Genetics.

The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.

N. de Leeuw, B. D. de Vries, W. Reardon, 2009, European journal of medical genetics.

Reversibility after female sterilization

K. Buysse, W. Boeckx, I. Brosens, 1987, British Journal of Obstetrics and Gynaecology.

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture.

K. Buysse, I. Janssen, C. Gilissen, 2013, Clinical biochemistry.

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

H. Mefford, E. Eichler, K. Buysse, 2009, Human molecular genetics.

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

H. Mefford, E. Eichler, K. Buysse, 2009, Human molecular genetics.