Dr. M.G. Elferink

• Bio-informatische verwerking van Next Generation Sequencing
• Procesverbetering en innovatie van bio-informatica en Next Generation Sequencing
• Niet-invasieve prenatale test (NIPT)

Afdelingen / poliklinieken

Genoomdiagnostiek, afdeling Genetica.

• Opheldering van genetische ziekten
• Innovatie en toepassing van nieuwe bio-informatische/NGS-technieken

Publicaties

• Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, et al. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet. 2015 Sep;23(9):1142-50.
• Hochstenbach R, Page-Christiaens GC, van Oppen AC, Lichtenbelt KD, van Harssel JJ, et al. Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18. Case Rep Genet. 2015;2015:926545
• Hochstenbach R, Nikkels PG, Elferink MG, Oudijk MA, van Oppen C et al. Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case. Clin Case Rep. 2015 Jun;3(6):489-91.
• Koning HD de, van Gijn ME, Stoffels M, Jongekrijg J, Zeeuwen PL, Elferink MG et al. Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome. J Allergy Clin Immunol. 2015 Feb
• Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, et al. Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. J Allergy Clin Immunol. 2014 Feb;133(2):529-34.

Volledige lijst met publicaties: Pubmed