Cost and Impact of Early Diagnosis in Primary Immunodeficiency Disease: A Literature Review

Elsink, K. van Montfrans, JM. van Gijn, ME. Blom, M. van Hagen, PM. Kuijpers, TW. Frederix GWJ. Clin Immunol (2020) 213

Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies

Yska, HAF. Elsink, K. Kuijpers, TW. Frederix, GWJ. van Gijn, ME. van Montfrans, JM. J Clin Immunol (2019) 39:577

Genetics First: Cost-effective diagnostic evaluation by targeted next-generation sequencing for patients with primary immunodeficiencies

Elsink K. van Gijn, ME. Bredius RGM. van Hagen, PM. Kuijpers, TW. Frederix, GWJ. van Montfrans, JM. on behalf of the Genetics First for Primary Immunodeficiencies (GF-PID) consortium. Ned Tijdschr Allergie, Astma, Klin Immunol (2019) 19:16-21 

Ingediende papers

National external quality assessment for next generation sequencing based diagnostics of primary immunodeficiencies: A study of data interpretation in the Netherlands

Elsink, K. Huibers, MMH. Hollink, IHIM. van der Veken, LT. Ernst, RF. Simons, A. Zonneveld-Huijssoon, E. van der Hout AH. Abbott, KM. Hoischen, A. Pieterse, M. Kuijpers, TW. van Montfrans, JM. van Gijn, ME. Submitted: European Journal of Human Genetics