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Buysse, Karen
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1

Detecting fetal subchromosomal aberrations by MPS: an unexp..:

Buysse, Karen ; de Ligt, Joep ; Janssen, Irene M....
Prenatal Diagnosis.  34 (2014)  4 - p. 402-405 , 2014
Link: https://doi.org/10.1002/..
 
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2

Missense mutations in β-1,3-N-acetylglucosaminyltransferase..:

Buysse, Karen ; Riemersma, Moniek ; Powell, Gareth...
Human Molecular Genetics.  22 (2013)  9 - p. 1746-1754 , 2013
Link: https://doi.org/10.1093/..
 
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3

Reliable noninvasive prenatal testing by massively parallel..:

Buysse, Karen ; Beulen, Lean ; Gomes, Ingrid...
Clinical Biochemistry.  46 (2013)  18 - p. 1783-1786 , 2013
Link: https://doi.org/10.1016/..
 
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4

Mutations in ISPD cause Walker-Warburg syndrome and defecti..:

Roscioli, Tony ; Kamsteeg, Erik-Jan ; Buysse, Karen...
Nature Genetics.  44 (2012)  5 - p. 581-585 , 2012
Link: https://doi.org/10.1038/..
 
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5

Five patients with novel overlapping interstitial deletions..:

Kuechler, Alma ; Buysse, Karen ; Clayton‐Smith, Jill...
American Journal of Medical Genetics Part A.  155 (2011)  8 - p. 1857-1864 , 2011
Link: https://doi.org/10.1002/..
 
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6

Giant axonal neuropathy caused by compound heterozygosity f..:

Buysse, Karen ; Vergult, Sarah ; Mussche, Silke...
American Journal of Medical Genetics Part A.  152A (2010)  11 - p. 2802-2804 , 2010
Link: https://doi.org/10.1002/..
 
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7

Genome-Wide Copy Number Variation in Epilepsy: Novel Suscep..:

Mefford, Heather C. ; Muhle, Hiltrud ; Ostertag, Philipp...
PLoS Genetics.  6 (2010)  5 - p. e1000962 , 2010
Link: https://doi.org/10.1371/..
 
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8

Challenges for CNV interpretation in clinical molecular kar..:

Buysse, Karen ; Delle Chiaie, Barbara ; Van Coster, Rudy...
European Journal of Medical Genetics.  52 (2009)  6 - p. 398-403 , 2009
Link: https://doi.org/10.1016/..
 
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9

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting C..:

D'haene, Barbara ; Attanasio, Catia ; Beysen, Diane...
PLoS Genetics.  5 (2009)  6 - p. e1000522 , 2009
Link: https://doi.org/10.1371/..
 
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10

Unusual 8p inverted duplication deletion with telomere capt..:

Buysse, Karen ; Antonacci, Francesca ; Callewaert, Bert...
European Journal of Medical Genetics.  52 (2009)  1 - p. 31-36 , 2009
Link: https://doi.org/10.1016/..
 
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11

Array comparative genomic hybridization and flow cytometry ..:

Menten, Björn ; Swerts, Katrien ; Chiaie, Barbara Delle...
BMC Medical Genetics.  10 (2009)  1 - p. , 2009
Link: https://doi.org/10.1186/..
 
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12

The 12q14 microdeletion syndrome: Additional patients and f..:

Buysse, Karen ; Reardon, William ; Mehta, Lakshmi...
European Journal of Medical Genetics.  52 (2009)  2-3 - p. 101-107 , 2009
Link: https://doi.org/10.1016/..
 
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13

Duplication within the SEPT9 gene associated with a founder..:

Landsverk, Megan L. ; Ruzzo, Elizabeth K. ; Mefford, Heather C....
Human Molecular Genetics.  18 (2009)  7 - p. 1200-1208 , 2009
Link: https://doi.org/10.1093/..
 
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14

Delineation of a critical region on chromosome 18 for the d..:

Buysse, Karen ; Menten, Björn ; Oostra, Ann...
American Journal of Medical Genetics Part A.  146A (2008)  10 - p. 1330-1334 , 2008
Link: https://doi.org/10.1002/..
 
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15

Report of a female patient with mental retardation and tall..:

Menten, Björn ; Buysse, Karen ; Vermeulen, Stefan...
European Journal of Medical Genetics.  50 (2007)  6 - p. 446-454 , 2007
Link: https://doi.org/10.1016/..
 
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