Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives von Vorsteveld, Emil E., Hoischen, Alexander, van der Made, Caspar I.

Volltext

SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation von Salz, Renee, Saraiva-Agostinho, Nuno, Vorsteveld, Emil, van der Made, Caspar I, Kersten, Simone, Stemerdink, Merel, Allen, Jamie, Volders, Pieter-Jan, Hunt, Sarah E, Hoischen, Alexander, 't Hoen, Peter A C

Volltext

Multi-omic profiling of pathogen-stimulated primary immune cells von Salz, Renee, Vorsteveld, Emil E., van der Made, Caspar I., Kersten, Simone, Stemerdink, Merel, Riepe, Tabea V., Hsieh, Tsung-han, Mhlanga, Musa, Netea, Mihai G., Volders, Pieter-Jan, Hoischen, Alexander, ’t Hoen, Peter A.C.

Volltext

SUsPECT : a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation von Salz, Renee, Saraiva-Agostinho, Nuno, Vorsteveld, Emil, van der Made, Caspar I, Kersten, Simone, Stemerdink, Merel, Allen, Jamie, Volders, Pieter-Jan, Hunt, Sarah E, Hoischen, Alexander, t Hoen, Peter A. C

Volltext

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis von Vorsteveld, Emil E., Van der Made, Caspar I., Smeekens, Sanne P., Schuurs-Hoeijmakers, Janneke H., Astuti, Galuh, Diepstra, Heleen, Gilissen, Christian, Hoenselaar, Evelien, Janssen, Alice, van Roozendaal, Kees, Engelen, Jettie Sikkema-van, Steyaert, Wouter, Weiss, Marjan M., Yntema, Helger G., Mantere, Tuomo, AlZahrani, Mofareh S., van Aerde, Koen, Derfalvi, Beata, Faqeih, Eissa Ali, Henriet, Stefanie S.V., van Hoof, Elise, Idressi, Eman, Issekutz, Thomas B., Jongmans, Marjolijn C.J., Keski-Filppula, Riikka, Krapels, Ingrid, te Loo, Maroeska, Mulders-Manders, Catharina M., ten Oever, Jaap, Potjewijd, Judith, Sarhan, Nora Tarig, Slot, Marjan C., Terhal, Paulien A., Thijs, Herman, Vandersteen, Anthony, Vanhoutte, Els K., van de Veerdonk, Frank, van Well, Gijs, Netea, Mihai G., Arts, Rob J.W., Bijker, Else M., Bruno, Mariolina, Hobo, Willemijn, Hoppenreijs, Esther, de Jonge, Marien I., van Laarhoven, Arjan, van der Molen, Renate, Oud, Manon, Schatorje, Ellen J.H., Smeets, Ruben, Sprenkeler, Evelien G.G., Stol, Kim, Verhagen, Lilly M., Zonneveld-Huijssoon, Evelien, Simons, Annet, Hoischen, Alexander

Volltext

Additional file 2 of SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation von Salz, Renee, Saraiva-Agostinho, Nuno, Vorsteveld, Emil, van der Made, Caspar I., Kersten, Simone, Stemerdink, Merel, Allen, Jamie, Volders, Pieter-Jan, Hunt, Sarah E., Hoischen, Alexander, ’t Hoen, Peter A.C.

Volltext bestellen