Computational flow cytometry: helping to make sense of high-dimensional immunology data von Saeys, Yvan, Van Gassen, Sofie, Lambrecht, Bart N.

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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss von Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez, Xilma, Mathews, Katherine, Panzer, Karin, Brilstra, Eva, van Gassen, Koen L.I., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Sobreira, Nara, Hamosh, Ada, McKnight, Dianalee, Monaghan, Kristin G., Chung, Wendy K.

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Genotype―phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort von VAN GASSEN, Koen L. I, VAN DER HEIJDEN, Charlotte D. C. C, VAN DE WARRENBURG, Bart P, DE BOT, Susanne T, DEN DUNNEN, Wilfred F. A, VAN DEN BERG, Leonard H, VERSCHUUREN-BEMELMANS, Corien C, KREMER, H. P. H, VELDINK, Jan H, KAMSTEEG, Erik-Jan, SCHEFFER, Hans

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De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms von Nakashima, Mitsuko, Kato, Mitsuhiro, Matsukura, Masaru, Kira, Ryutaro, Ngu, Lock-Hock, Lichtenbelt, Klaske D, van Gassen, Koen L I, Mitsuhashi, Satomi, Saitsu, Hirotomo, Matsumoto, Naomichi

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Whole-exome sequencing in intellectual disability; cost before and after a diagnosis von Vrijenhoek, Terry, Middelburg, Eline M, Monroe, Glen R, van Gassen, Koen L I, Geenen, Joost W, Hövels, Anke M, Knoers, Nine V, van Amstel, Hans Kristian Ploos, Frederix, Gerardus W J

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Points to consider for laboratories reporting results from diagnostic genomic sequencing von Vears, D F, Sénécal, K, Clarke, A J, Jackson, L, Laberge, A M, Lovrecic, L, Piton, A, Van Gassen, K L I, Yntema, H G, Knoppers, B M, Borry, P

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Monocyte-driven atypical cytokine storm and aberrant neutrophil activation as key mediators of COVID-19 disease severity von Vanderbeke, L., Van Mol, P., Van Herck, Y., De Smet, F., Humblet-Baron, S., Martinod, K., Antoranz, A., Arijs, I., Boeckx, B., Bosisio, F. M., Casaer, M., Dauwe, D., De Wever, W., Dooms, C., Dreesen, E., Emmaneel, A., Filtjens, J., Gouwy, M., Gunst, J., Hermans, G., Jansen, S., Lagrou, K., Liston, A., Lorent, N., Meersseman, P., Mercier, T., Neyts, J., Odent, J., Panovska, D., Penttila, P. A., Pollet, E., Proost, P., Qian, J., Quintelier, K., Raes, J., Rex, S., Saeys, Y., Sprooten, J., Tejpar, S., Testelmans, D., Thevissen, K., Van Buyten, T., Vandenhaute, J., Van Gassen, S., Velásquez Pereira, L. C., Vos, R., Weynand, B., Wilmer, A., Yserbyt, J., Garg, A. D., Matthys, P., Wouters, C., Lambrechts, D., Wauters, E., Wauters, J.

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Unsupervised High-Dimensional Analysis Aligns Dendritic Cells across Tissues and Species von Guilliams, Martin, Dutertre, Charles-Antoine, Scott, Charlotte L., McGovern, Naomi, Sichien, Dorine, Chakarov, Svetoslav, Van Gassen, Sofie, Chen, Jinmiao, Poidinger, Michael, De Prijck, Sofie, Tavernier, Simon J., Low, Ivy, Irac, Sergio Erdal, Mattar, Citra Nurfarah, Sumatoh, Hermi Rizal, Low, Gillian Hui Ling, Chung, Tam John Kit, Chan, Dedrick Kok Hong, Tan, Ker Kan, Hon, Tony Lim Kiat, Fossum, Even, Bogen, Bjarne, Choolani, Mahesh, Chan, Jerry Kok Yen, Larbi, Anis, Luche, Hervé, Henri, Sandrine, Saeys, Yvan, Newell, Evan William, Lambrecht, Bart N., Malissen, Bernard, Ginhoux, Florent

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CytoNorm: A Normalization Algorithm for Cytometry Data von Van Gassen, Sofie, Gaudilliere, Brice, Angst, Martin S., Saeys, Yvan, Aghaeepour, Nima

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De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment von Hempel, Maja, Cremer, Kirsten, Ockeloen, Charlotte W., Lichtenbelt, Klaske D., Herkert, Johanna C., Denecke, Jonas, Haack, Tobias B., Zink, Alexander M., Becker, Jessica, Wohlleber, Eva, Johannsen, Jessika, Alhaddad, Bader, Pfundt, Rolph, Fuchs, Sigrid, Wieczorek, Dagmar, Strom, Tim M., van Gassen, Koen L.I., Kleefstra, Tjitske, Kubisch, Christian, Engels, Hartmut, Lessel, Davor

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Analyzing high-dimensional cytometry data using FlowSOM von Quintelier, Katrien, Couckuyt, Artuur, Emmaneel, Annelies, Aerts, Joachim, Saeys, Yvan, Van Gassen, Sofie

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IRF8 Transcription Factor Controls Survival and Function of Terminally Differentiated Conventional and Plasmacytoid Dendritic Cells, Respectively von Sichien, Dorine, Scott, Charlotte L., Martens, Liesbet, Vanderkerken, Matthias, Van Gassen, Sofie, Plantinga, Maud, Joeris, Thorsten, De Prijck, Sofie, Vanhoutte, Leen, Vanheerswynghels, Manon, Van Isterdael, Gert, Toussaint, Wendy, Madeira, Filipe Branco, Vergote, Karl, Agace, William W., Clausen, Björn E., Hammad, Hamida, Dalod, Marc, Saeys, Yvan, Lambrecht, Bart N., Guilliams, Martin

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Aminoacyl-tRNA synthetase deficiencies in search of common themes von Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., van Hasselt, Peter M.

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PeacoQC: Peak‐based selection of high quality cytometry data von Emmaneel, Annelies, Quintelier, Katrien, Sichien, Dorine, Rybakowska, Paulina, Marañón, Concepción, Alarcón‐Riquelme, Marta E., Van Isterdael, Gert, Van Gassen, Sofie, Saeys, Yvan

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Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia von Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, van Gassen, Koen L I

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A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation von Tavernier, S. J., Athanasopoulos, V., Verloo, P., Behrens, G., Staal, J., Bogaert, D. J., Naesens, L., De Bruyne, M., Van Gassen, S., Parthoens, E., Ellyard, J., Cappello, J., Morris, L. X., Van Gorp, H., Van Isterdael, G., Saeys, Y., Lamkanfi, M., Schelstraete, P., Dehoorne, J., Bordon, V., Van Coster, R., Lambrecht, B. N., Menten, B., Beyaert, R., Vinuesa, C. G., Heissmeyer, V., Dullaers, M., Haerynck, F.

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FlowSOM: Using self‐organizing maps for visualization and interpretation of cytometry data von Van Gassen, Sofie, Callebaut, Britt, Van Helden, Mary J., Lambrecht, Bart N., Demeester, Piet, Dhaene, Tom, Saeys, Yvan

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Efficient cytometry analysis with FlowSOM in Python boosts interoperability with other single-cell tools von Couckuyt, Artuur, Rombaut, Benjamin, Saeys, Yvan, Van Gassen, Sofie

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling von Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R.F., Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenka E.L.M., Koemans, Tom S., Wissink-Lindhout, Willemijn, Eichler, Evan E., Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje W.M., Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L., Van Dijck, Anke, Innes, A. Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J., Henderson, Alex, Lynch, Sally A., Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen L.I., Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L., Pediaditakis, Igor, Haas, Stefan A., Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G., Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C., Stein, Quinn, Strauss, Kevin A., Brigatti, Karlla W., Keating, Katherine, Burton, Barbara K., Kim, Katherine H., Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D., Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M., van Roozendaal, Kees, Brunner, Han, Chung, Wendy K., Kooy, R. Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G., Katsanis, Nicholas, Kleefstra, Tjitske

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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants von Johnston, Jennifer J, van der Smagt, Jasper J, Rosenfeld, Jill A, Pagnamenta, Alistair T, Alswaid, Abdulrahman, Baker, Eva H, Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B, van Gassen, Koen L, Gulsuner, Suleyman, Harr, Margaret H, Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A, McDonald-McGinn, Donna M, Can, Ngoc Thi Bich, Peleg, Amir, Roeder, Elizabeth R, Rogers, R Curtis, Sagi-Dain, Lena, Sapp, Julie C, Schäffer, Alejandro A, Schanze, Denny, Stewart, Helen, Taylor, Jenny C, Verbeek, Nienke E, Walkiewicz, Magdalena A, Zackai, Elaine H, Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G

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