- Whole genome amplification on DNA from filter paper blood spot samples: an evaluation of selected systemsKarina Meden Sørensen
Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen S, Denmark
Genet Test 11:65-71. 2007..System choice should be based on requirements for system flexibility, product yield, and use in subsequent analysis...
- Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samplesKarina M Sørensen
Department of Clinical Biochemistry and Immunology 85 232, Statens Serum Institut, Artillerivej 5, 2300 Kbh S, Denmark
J Mol Diagn 12:147-51. 2010..This allows for use of DBSS samples in a retrospective study of 22q11.2 deletion among certain manifestations associated with DiGeorge Syndrome...
- Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA materialKarina Meden Sørensen
National Center for Antimicrobials and Infection Control, Statens Serum Institut, Artillerivej 5, DK 2300 Copenhagen S, Denmark
Anal Chem 80:9363-8. 2008..3 ng/microL (1.6 ng total). This broadens the diagnostic perspectives of samples of DBSS allowing for copy number variation analysis in general and particularly testing for CAH...
- Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patientsKarina Meden Sørensen
Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark
Am J Med Genet A 158:720-5. 2012..We conclude that the MLPA assay detects clinically relevant CNVs and suggest that it could be used within pediatric cardiology as a first tier screen to detect clinically relevant CNVs and identify syndromic patients at an early stage...