All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience

Authors: Faas, Brigitte H. W., Westra, Dineke, Munnik, Sonja A., Rij, Maartje, Marcelis, Carlo, Joosten, Sara, Krapels, Ingrid, Vernimmen, Vivian, Heijligers, Malou, Willemsen, Marjolein H., Leeuw, Nicole, Rinne, Tuula, Pfundt, Rolph, Smeekens, Sanne P., Stegmann, Sander P. A., Macville, Merryn, Sikkel, Esther, Coumans, Audrey, Wijnberger, Lia, Derks, Irma, Lent‐Albrechts, Josefa, Hofste, Tom, Timmermans, Raoul, End, Janneke, Stevens, Servi J. C., Feenstra, Ilse

Source: Prenatal diagnosis. 43(4):527-543

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182172980.0x000001&indx=1&recIds=ETOCvdc_100182172980.0x000001