Oral Mucosal Organoids as a Potential Platform for Personalized Cancer Therapy von Driehuis, Else, Kolders, Sigrid, Spelier, Sacha, Lõhmussaar, Kadi, Willems, Stefan M, Devriese, Lot A, de Bree, Remco, de Ruiter, Emma J, Korving, Jeroen, Begthel, Harry, van Es, Johan H, Geurts, Veerle, He, Gui-Wei, van Jaarsveld, Richard H, Oka, Rurika, Muraro, Mauro J, Vivié, Judith, Zandvliet, Maurice M J M, Hendrickx, Antoni P A, Iakobachvili, Nino, Sridevi, Priya, Kranenburg, Onno, van Boxtel, Ruben, Kops, Geert J P L, Tuveson, David A, Peters, Peter J, van Oudenaarden, Alexander, Clevers, Hans

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Ongoing chromosomal instability and karyotype evolution in human colorectal cancer organoids von Bolhaqueiro, Ana C. F., Ponsioen, Bas, Bakker, Bjorn, Klaasen, Sjoerd J., Kucukkose, Emre, van Jaarsveld, Richard H., Vivié, Judith, Verlaan-Klink, Ingrid, Hami, Nizar, Spierings, Diana C. J., Sasaki, Nobuo, Dutta, Devanjali, Boj, Sylvia F., Vries, Robert G. J., Lansdorp, Peter M., van de Wetering, Marc, van Oudenaarden, Alexander, Clevers, Hans, Kranenburg, Onno, Foijer, Floris, Snippert, Hugo J. G., Kops, Geert J. P. L.

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Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome von Ramirez-Martinez, Andres, Zhang, Yichi, van den Boogaard, Marie-Jose, McAnally, John R, Rodriguez-Caycedo, Cristina, Chai, Andreas C, Chemello, Francesco, Massink, Maarten Pg, Cuppen, Inge, Elferink, Martin G, van Es, Robert Jj, Janssen, Nard G, Walraven-van Oijen, Linda Pam, Liu, Ning, Bassel-Duby, Rhonda, van Jaarsveld, Richard H, Olson, Eric N

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A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development von Asmar, Anthony J., Abrams, Shaun R., Hsin, Jenny, Collins, Jason C., Yazejian, Rita M., Wu, Youmei, Cho, Jean, Doyle, Andrew D., Cinthala, Samhitha, Simon, Marleen, van Jaarsveld, Richard H., Beck, David B., Kerosuo, Laura, Werner, Achim

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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia von Muir, Alison M., Gardner, Jennifer F., van Jaarsveld, Richard H., de Lange, Iris M., van der Smagt, Jasper J., Wilson, Golder N., Dubbs, Holly, Goldberg, Ethan M., Zitano, Lia, Bupp, Caleb, Martinez, Jose, Srour, Myriam, Accogli, Andrea, Alhakeem, Afnan, Meltzer, Meira, Gropman, Andrea, Brewer, Carole, Caswell, Richard C., Montgomery, Tara, McKenna, Caoimhe, McKee, Shane, Powell, Corinna, Vasudevan, Pradeep C., Brady, Angela F., Joss, Shelagh, Tysoe, Carolyn, Noh, Grace, Tarnopolsky, Mark, Brady, Lauren, Zafar, Muhammad, Schrier Vergano, Samantha A., Murray, Brianna, Sawyer, Lindsey, Hainline, Bryan E., Sapp, Katherine, DeMarzo, Danielle, Huismann, Darcy J., Wentzensen, Ingrid M., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rhodes, Lindsay, Dobyns, William B., Lecoquierre, Francois, Goldenberg, Alice, Polster, Tilman, Axer-Schaefer, Susanne, Platzer, Konrad, Klöckner, Chiara, Hoffman, Trevor L., MacArthur, Daniel G., O’Leary, Melanie C., VanNoy, Grace E., England, Eleina, Varghese, Vinod C., Mefford, Heather C.

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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations von Werren, Elizabeth A., Peirent, Emily R., Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K. L. I., Giltay, Jacques C., Oegema, Renske, van Jaarsveld, Richard H., Rafiullah, Rafiullah, Rappold, Gudrun A., Rabin, Rachel, Pappas, John G., Wheeler, Marsha M., Bamshad, Michael J., Tsan, Yao-Chang, Johnson, Matthew B., Keegan, Catherine E., Srivastava, Anshika, Bielas, Stephanie L.

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Difference Makers: Chromosomal Instability versus Aneuploidy in Cancer von van Jaarsveld, Richard H, Kops, Geert J P L

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Sequential cancer mutations in cultured human intestinal stem cells von Drost, Jarno, van Jaarsveld, Richard H., Ponsioen, Bas, Zimberlin, Cheryl, van Boxtel, Ruben, Buijs, Arjan, Sachs, Norman, Overmeer, René M., Offerhaus, G. Johan, Begthel, Harry, Korving, Jeroen, van de Wetering, Marc, Schwank, Gerald, Logtenberg, Meike, Cuppen, Edwin, Snippert, Hugo J., Medema, Jan Paul, Kops, Geert J. P. L., Clevers, Hans

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Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood von Levy, Michael A., Beck, David B., Metcalfe, Kay, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Ansar, Muhammad, Kerkhof, Jennifer, Mignot, Cyril, Nougues, Marie-Christine, Keren, Boris, Moore, Hannah W., Oegema, Renske, Giltay, Jacques C., Simon, Marleen, van Jaarsveld, Richard H., Bos, Jessica, van Haelst, Mieke, Motazacker, M. Mahdi, Boon, Elles M. J., Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Alders, Marielle, Luperchio, Teresa Romeo, Boukas, Leandros, Ramsey, Keri, Narayanan, Vinodh, Schaefer, G. Bradley, Bonasio, Roberto, Doheny, Kimberly F., Stevenson, Roger E., Banka, Siddharth, Sadikovic, Bekim, Fahrner, Jill A.

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Nuclear chromosome locations dictate segregation error frequencies von Klaasen, Sjoerd J., Truong, My Anh, van Jaarsveld, Richard H., Koprivec, Isabella, Štimac, Valentina, de Vries, Sippe G., Risteski, Patrik, Kodba, Snježana, Vukušić, Kruno, de Luca, Kim L., Marques, Joana F., Gerrits, Elianne M., Bakker, Bjorn, Foijer, Floris, Kind, Jop, Tolić, Iva M., Lens, Susanne M. A., Kops, Geert J. P. L.

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Genetics-first approach improves diagnostics of ESKD patients <50 years old von Snoek, Rozemarijn, van Jaarsveld, Richard H, Nguyen, Tri Q, Peters, Edith D J, Elferink, Martin G, Ernst, Robert F, Rookmaaker, Maarten B, Lilien, Marc R, Spierings, Eric, Goldschmeding, Roel, Knoers, Nine V A M, van der Zwaag, Bert, van Zuilen, Arjan D, van Eerde, Albertien M

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Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay von Huang, Yan, Mao, Xiao, van Jaarsveld, Richard H, Shu, Li, Terhal, Paulien A, Jia, Zhengjun, Xi, Hui, Peng, Ying, Yan, Huiming, Yuan, Shan, Li, Qibin, Wang, Hua, Bellen, Hugo J

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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway von Gong, Maolei, Li, Jiayi, Qin, Zailong, Machado Bressan Wilke, Matheus Vernet, Liu, Yijun, Li, Qian, Liu, Haoran, Liang, Chen, Morales-Rosado, Joel A., Cohen, Ana S.A., Hughes, Susan S., Sullivan, Bonnie R., Waddell, Valerie, van den Boogaard, Marie-José H., van Jaarsveld, Richard H., van Binsbergen, Ellen, van Gassen, Koen L., Wang, Tianyun, Hiatt, Susan M., Amaral, Michelle D., Kelley, Whitley V., Zhao, Jianbo, Feng, Weixing, Ren, Changhong, Yu, Yazhen, Boczek, Nicole J., Ferber, Matthew J., Lahner, Carrie, Elliott, Sherr, Ruan, Yiyan, Mignot, Cyril, Keren, Boris, Xie, Hua, Wang, Xiaoyan, Popp, Bernt, Zweier, Christiane, Piard, Juliette, Coubes, Christine, Mau-Them, Frederic Tran, Safraou, Hana, Innes, A. Micheil, Gauthier, Julie, Michaud, Jacques L., Koboldt, Daniel C., Sylvie, Odent, Willems, Marjolaine, Tan, Wen-Hann, Cogne, Benjamin, Rieubland, Claudine, Braun, Dominique, McLean, Scott Douglas, Platzer, Konrad, Zacher, Pia, Oppermann, Henry, Evenepoel, Lucie, Blanc, Pierre, El Khattabi, Laïla, Haque, Neshatul, Dsouza, Nikita R., Zimmermann, Michael T., Urrutia, Raul, Klee, Eric W., Shen, Yiping, Du, Hongzhen, Rappaport, Leonard, Liu, Chang-Mei, Chen, Xiaoli

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Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood von Levy, Michael A., Beck, David B., Metcalfe, Kay, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Ansar, Muhammad, Kerkhof, Jennifer, Mignot, Cyril, Nougues, Marie-Christine, Keren, Boris, Moore, Hannah W., Oegema, Renske, Giltay, Jacques C., Simon, Marleen, van Jaarsveld, Richard H., Bos, Jessica, van Haelst, Mieke, Motazacker, M. Mahdi, Boon, Elles M. J., Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Alders, Marielle, Luperchio, Teresa Romeo, Boukas, Leandros, Ramsey, Keri, Narayanan, Vinodh, Schaefer, G. Bradley, Bonasio, Roberto, Doheny, Kimberly F., Stevenson, Roger E., Banka, Siddharth, Sadikovic, Bekim, Fahrner, Jill A.

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De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder von Janssen, Beau D. E., Boogaard, Marie‐Jose H., Lichtenbelt, Klaske, Seaby, Eleanor G., Stals, Karen, Ellard, Sian, Newbury‐Ecob, Ruth, Dixit, Abhijit, Roht, Laura, Pajusalu, Sander, Õunap, Katrin, Firth, Helen V., Buckley, Michael, Wilson, Meredith, Roscioli, Tony, Tidwell, Timothy, Mao, Rong, Ennis, Sarah, Holwerda, Sjoerd J., Gassen, Koen, Jaarsveld, Richard H.

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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder von Küry, Sébastien, Ebstein, Frédéric, Mollé, Alice, Besnard, Thomas, Lee, Ming-Kang, Vignard, Virginie, Hery, Tiphaine, Nizon, Mathilde, Mancini, Grazia M.S., Giltay, Jacques C., Cogné, Benjamin, McWalter, Kirsty, Deb, Wallid, Mor-Shaked, Hagar, Li, Hong, Schnur, Rhonda E., Wentzensen, Ingrid M., Denommé-Pichon, Anne-Sophie, Fourgeux, Cynthia, Verheijen, Frans W., Faurie, Eva, Schot, Rachel, Stevens, Cathy A., Smits, Daphne J., Barr, Eileen, Sheffer, Ruth, Bernstein, Jonathan A., Stimach, Chandler L., Kovitch, Eliana, Shashi, Vandana, Schoch, Kelly, Smith, Whitney, van Jaarsveld, Richard H., Hurst, Anna C.E., Smith, Kirstin, Baugh, Evan H., Bohm, Suzanne G., Vyhnálková, Emílie, Ryba, Lukáš, Delnatte, Capucine, Neira, Juanita, Bonneau, Dominique, Toutain, Annick, Rosenfeld, Jill A., Audebert-Bellanger, Séverine, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Laumonnier, Frédéric, Berger, Seth I., Smith, Ann C.M., Bourdeaut, Franck, Stern, Marc-Henri, Redon, Richard, Krüger, Elke, Margueron, Raphaël, Bézieau, Stéphane, Poschmann, Jeremie, Isidor, Bertrand

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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD von Pavinato, Lisa, Delle Vedove, Andrea, Carli, Diana, Ferrero, Marta, Carestiato, Silvia, Howe, Jennifer L, Agolini, Emanuele, Coviello, Domenico A, van de Laar, Ingrid, Au, Ping Yee Billie, Di Gregorio, Eleonora, Fabbiani, Alessandra, Croci, Susanna, Mencarelli, Maria Antonietta, Bruno, Lucia P, Renieri, Alessandra, Veltra, Danai, Sofocleous, Christalena, Faivre, Laurence, Mazel, Benoit, Safraou, Hana, Denommé-Pichon, Anne-Sophie, van Slegtenhorst, Marjon A, Giesbertz, Noor, van Jaarsveld, Richard H, Childers, Anna, Rogers, R Curtis, Novelli, Antonio, De Rubeis, Silvia, Buxbaum, Joseph D, Scherer, Stephen W, Ferrero, Giovanni Battista, Wirth, Brunhilde, Brusco, Alfredo

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A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes von Seaby, Eleanor G., Smedley, Damian, Taylor Tavares, Ana Lisa, Brittain, Helen, van Jaarsveld, Richard H., Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah

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HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome von Reichert, Sara C., Li, Rachel, Turner, Scott, Jaarsveld, Richard H., Massink, Maarten P.G., Boogaard, Marie‐José H., Toro, Mireia, Rodríguez‐Palmero, Agustí, Fourcade, Stéphane, Schlüter, Agatha, Planas‐Serra, Laura, Pujol, Aurora, Iascone, Maria, Maitz, Silvia, Loong, Lucy, Stewart, Helen, De Franco, Elisa, Ellard, Sian, Frank, Julie, Lewandowski, Raymond

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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity von Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E.H., van Jaarsveld, Richard H., Oegema, Renske, van Gassen, Koen L.I., Holwerda, Sjoerd J.B., Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y., Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K., Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan

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