Demis Tserpelis

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok et al. · Human Mutation · 2010 · 146 citations · Full text

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Mara Colombo, Marinus J. Blok, Phillip J Whiley et al. · Human Molecular Genetics · 2014 · 87 citations · Full text

Cancer Pathology, Genetics, Rna Splicing +20

Somatic mosaicism in a mother of two children with Pitt–Hopkins syndrome

CVM Steinbusch, KEP van Roozendaal, Demis Tserpelis et al. · Clinical Genetics · 2012 · 70 citations

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

Phillip J Whiley, Miguel de la Hoya, Mads Thomassen et al. · Clinical Chemistry · 2013 · 69 citations · Full text

Naturally occurring <i>BRCA2</i> alternative mRNA splicing events in clinically relevant samples

James D. Fackenthal, Toshio F. Yoshimatsu, Bifeng Zhang et al. · Journal of Medical Genetics · 2016 · 52 citations