Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

Authors: 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, 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., Simons, Annet, Hoischen, Alexander

Source: In Clinical Immunology November 2024 268

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

Clinical exome sequencing—Mistakes and caveats

Authors: Corominas, Jordi, Smeekens, Sanne P., Nelen, Marcel R., Yntema, Helger G., Kamsteeg, Erik‐Jan, Pfundt, Rolph, Gilissen, Christian

Source: Human mutation. 43(8):1041-1055

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100158985168.0x000001&indx=1&recIds=ETOCvdc_100158985168.0x000001

An integrative genomics approach identifies KDM4 as a modulator of trained immunity

Authors: Moorlag, Simone J.C.F.M., Matzaraki, Vasiliki, Puffelen, Jelmer H., Heijden, Charlotte, Keating, Sam, Groh, Laszlo, Röring, Rutger Jan, Bakker, Olivier B., Mourits, Vera P., Koeken, Valerie A.C.M., Bree, L. Charlotte J., Smeekens, Sanne P., Oosting, Marije, Gamboa, Raúl Aguirre, Riksen, Niels P., Xavier, Ramnik J., Wijmenga, Cisca, Kumar, Vinod, Crevel, Reinout, Novakovic, Boris, Joosten, Leo A.B., Li, Yang, Netea, Mihai G.

Source: European journal of immunology. 52(3):431-446

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100144657483.0x000001&indx=1&recIds=ETOCvdc_100144657483.0x000001

Human recombinant interleukin-38 suppresses inflammation in mouse models of local and systemic disease

Authors: de Graaf, Dennis M., Maas, Ralph J.A., Smeekens, Sanne P., Eisenmesser, Elan, Redzic, Jasmina S., Helsen, Monique M., Powers, Nicholas E., Li, Suzhao, Kalabokis, Vassili, Gresnigt, Mark S., Joosten, Leo A.B., Dinarello, Charles A., van de Veerdonk, Frank L.

Source: In Cytokine January 2021 137

Seasonal and Nonseasonal Longitudinal Variation of Immune Function

Authors: Horst, Rob ter, Jaeger, Martin, van de Wijer, Lisa, van der Heijden, Wouter A., Janssen, Anna M. W., Smeekens, Sanne P., Brouwer, Michelle A. E., van Cranenbroek, Bram, Aguirre-Gamboa, Raul, Netea-Maier, Romana T.

Source: Journal of immunology. 207(2):696-708

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN627133765&indx=1&recIds=ETOCRN627133765

Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.

Authors: Smeekens, Sanne P., Leferink, Maike., Yntema, Helger G., Kamsteeg, Erik‐Jan

Source: Prenatal Diagnosis; Oct2024, Vol. 44 Issue 11, p1304-1309, 6p

A Genome-Wide Functional Genomics Approach Identifies Susceptibility Pathways to Fungal Bloodstream Infection in Humans

Authors: Jaeger, Martin, Matzaraki, Vasiliki, Aguirre-Gamboa, Raúl, Gresnigt, Mark S., Chu, Xiaojing, Johnson, Melissa D., Oosting, Marije, Smeekens, Sanne P., Withoff, Sebo, Jonkers, Iris, Perfect, John R., van de Veerdonk, Frank L., Kullberg, Bart-Jan, Joosten, Leo A. B., Li, Yang, Wijmenga, Cisca, Netea, Mihai G., Kumar, Vinod

Source: The Journal of Infectious Diseases, 2019 Sep 01. 220(5), 862-872.

Access URL: https://www.jstor.org/stable/26758779

Sex-Specific Regulation of Inflammation and Metabolic Syndrome in Obesity

Authors: ter Horst, Rob, van den Munckhof, Inge C.L., Schraa, Kiki, Aguirre-Gamboa, Raul, Jaeger, Martin, Smeekens, Sanne P., Brand, Tessa, Lemmers, Heidi, Dijkstra, Helga, Galesloot, Tessel E., de Graaf, Jacqueline, Xavier, Ramnik J., Li, Yang, Joosten, Leo A.B., Rutten, Joost H.W., Netea, Mihai G., Riksen, Niels P.

Source: Arteriosclerosis, thrombosis, and vascular biology. 40(7):1787-1800

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180889968.0x000001&indx=1&recIds=ETOCvdc_100180889968.0x000001

Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing Data.

Authors: Smeekens, Sanne P, Timmermans, Raoul, Westra, Dineke, Gilissen, Christian, Faas, Brigitte H W

Source: Clinical Chemistry; Aug2024, Vol. 70 Issue 8, p1056-1063, 8p

The fecal and mucosal microbiome in acute appendicitis patients: an observational study

Authors: Peeters, Toon, Penders, John, Smeekens, Sanne P, Galazzo, Gianluca, Houben, Bert, Netea, Mihai G, Savelkoul, Paul HM, Gyssens, Inge C

Source: Future microbiology. 14(02):111-127

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100188376675.0x000001&indx=1&recIds=ETOCvdc_100188376675.0x000001

The Inter-Relationship of Platelets with Interleukin-1 β-Mediated Inflammation in Humans

Authors: Tunjungputri, Rahajeng N., Li, Yang, de Groot, Philip G., Dinarello, Charles A., Smeekens, Sanne P., Jaeger, Martin, Doppenberg-Oosting, Marije, Cruijsen, Milou, Lemmers, Heidi, Toenhake-Dijkstra, Helga

Source: Thrombosis and haemostasis. 118(12):2112-2125

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN618184595&indx=1&recIds=ETOCRN618184595

Host and Environmental Factors Influencing Individual Human Cytokine Responses

Authors: ter Horst, Rob, Jaeger, Martin, Smeekens, Sanne P., Oosting, Marije, Swertz, Morris A., Li, Yang, Kumar, Vinod, Diavatopoulos, Dimitri A., Jansen, Anne F.M., Lemmers, Heidi, Toenhake-Dijkstra, Helga, van Herwaarden, Antonius E., Janssen, Matthijs, van der Molen, Renate G., Joosten, Irma, Sweep, Fred C.G.J., Smit, Johannes W., Netea-Maier, Romana T., Koenders, Mieke M.J.F., Xavier, Ramnik J., van der Meer, Jos W.M., Dinarello, Charles A., Pavelka, Norman, Wijmenga, Cisca, Notebaart, Richard A., Joosten, Leo A.B., Netea, Mihai G.

Source: In Cell 3 November 2016 167(4):1111-1124

A Functional Genomics Approach to Understand Variation in Cytokine Production in Humans

Authors: Li, Yang, Oosting, Marije, Smeekens, Sanne P., Jaeger, Martin, Aguirre-Gamboa, Raul, Le, Kieu T.T., Deelen, Patrick, Ricaño-Ponce, Isis, Schoffelen, Teske, Jansen, Anne F.M., Swertz, Morris A., Withoff, Sebo, van de Vosse, Esther, van Deuren, Marcel, van de Veerdonk, Frank, Zhernakova, Alexandra, van der Meer, Jos W.M., Xavier, Ramnik J., Franke, Lude, Joosten, Leo A.B., Wijmenga, Cisca, Kumar, Vinod, Netea, Mihai G.

Source: In Cell 3 November 2016 167(4):1099-1110

Linking the Human Gut Microbiome to Inflammatory Cytokine Production Capacity

Authors: Schirmer, Melanie, Smeekens, Sanne P., Vlamakis, Hera, Jaeger, Martin, Oosting, Marije, Franzosa, Eric A., ter Horst, Rob, Jansen, Trees, Jacobs, Liesbeth, Bonder, Marc Jan, Kurilshikov, Alexander, Fu, Jingyuan, Joosten, Leo A.B., Zhernakova, Alexandra, Huttenhower, Curtis, Wijmenga, Cisca, Netea, Mihai G., Xavier, Ramnik J.

Source: In Cell 3 November 2016 167(4):1125-1136

An anti-inflammatory property of Candida albicans β-glucan: Induction of high levels of interleukin-1 receptor antagonist via a Dectin-1/CR3 independent mechanism

Authors: Smeekens, Sanne P., Gresnigt, Mark S., Becker, Katharina L., Cheng, Shih-Chin, Netea, Stejara A., Jacobs, Liesbeth, Jansen, Trees, van de Veerdonk, Frank L., Williams, David L., Joosten, Leo A.B., Dinarello, Charles A., Netea, Mihai G.

Source: In Cytokine February 2015 71(2):215-222

The effects of in vivo B-cell depleting therapy on ex-vivo cytokine production

Authors: Smeekens, Sanne P., van den Hoogen, Martijn W.F., Kamburova, Elena G., van de Veerdonk, Frank L., Joosten, Irma, Koenen, Hans J.M.P., Netea, Mihai G., Hilbrands, Luuk B., Joosten, Leo A.B.

Source: In Transplant Immunology June 2013 28(4):183-188

IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans

Authors: de Luca, Antonella, Smeekens, Sanne P., Casagrande, Andrea, Iannitti, Rossana, Conway, Kara L., Gresnigt, Mark. S., Begun, Jakob, Plantinga, Theo S., Joosten, Leo A. B., van der Meer, Jos W. M., Chamilos, Georgios, Netea, Mihai G., Xavier, Ramnik J., Dinarello, Charles A., Romani, Luigina, van de Veerdonk, Frank L.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2014 Mar 01. 111(9), 3526-3531.

Access URL: https://www.jstor.org/stable/23770725

Reactive Oxygen Species-Independent Activation of the IL-1β Inflammasome in Cells from Patients with Chronic Granulomatous Disease

Authors: van de Veerdonk, Frank L., Smeekens, Sanne P., Joosten, Leo A. B., Kullberg, Bart Jan, Dinarello, Charles A., van der Meer, Jos W. M., Netea, Mihai G.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2010 Feb 01. 107(7), 3030-3033.

Access URL: https://www.jstor.org/stable/40536811

Integration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease.

Authors: Chu, Xiaojing, Jaeger, Martin, Beumer, Joep, Bakker, Olivier B., Aguirre-Gamboa, Raul, Oosting, Marije, Smeekens, Sanne P., Moorlag, Simone, Mourits, Vera P., Koeken, Valerie A. C. M., de Bree, Charlotte, Jansen, Trees, Mathews, Ian T., Dao, Khoi, Najhawan, Mahan, Watrous, Jeramie D., Joosten, Irma, Sharma, Sonia, Koenen, Hans J. P. M., Withoff, Sebo

Source: Genome Biology; 7/6/2021, Vol. 22 Issue 1, p1-22, 22p