Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders by Stessman, Holly A.F., Willemsen, Marjolein H., Fenckova, Michaela, Penn, Osnat, Hoischen, Alexander, Xiong, Bo, Wang, Tianyun, Hoekzema, Kendra, Vives, Laura, Vogel, Ida, Brunner, Han G., van der Burgt, Ineke, Ockeloen, Charlotte W., Schuurs-Hoeijmakers, Janneke H., Klein Wassink-Ruiter, Jolien S., Stumpel, Connie, Stevens, Servi J.C., Vles, Hans S., Marcelis, Carlo M., van Bokhoven, Hans, Cantagrel, Vincent, Colleaux, Laurence, Nicouleau, Michael, Lyonnet, Stanislas, Bernier, Raphael A., Gerdts, Jennifer, Coe, Bradley P., Romano, Corrado, Alberti, Antonino, Grillo, Lucia, Scuderi, Carmela, Nordenskjöld, Magnus, Kvarnung, Malin, Guo, Hui, Xia, Kun, Piton, Amélie, Gerard, Bénédicte, Genevieve, David, Delobel, Bruno, Lehalle, Daphne, Perrin, Laurence, Prieur, Fabienne, Thevenon, Julien, Gecz, Jozef, Shaw, Marie, Pfundt, Rolph, Keren, Boris, Jacquette, Aurelia, Schenck, Annette, Eichler, Evan E., Kleefstra, Tjitske

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Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging by Deden, Chantal, Neveling, Kornelia, Zafeiropopoulou, Dimitra, Gilissen, Christian, Pfundt, Rolph, Rinne, Tuula, Leeuw, Nicole, Faas, Brigitte, Gardeitchik, Thatjana, Sallevelt, Suzanne C. E. H., Paulussen, Aimee, Stevens, Servi J. C., Sikkel, Esther, Elting, Mariet W., Maarle, Merel C., Diderich, Karin E. M., Corsten‐Janssen, Nicole, Lichtenbelt, Klaske D., Lachmeijer, Guus, Vissers, Lisenka E. L. M., Yntema, Helger G., Nelen, Marcel, Feenstra, Ilse, Zelst‐Stams, Wendy A. G.

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Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing by van Dijk, Wanwisa, Derks, Kasper, Drüsedau, Marion, Meekels, Jeroen, Koeck, Rebekka, Essers, Rick, Dreesen, Joseph, Coonen, Edith, de Die-Smulders, Christine, Stevens, Servi J C, Brunner, Han G, van den Wijngaard, Arthur, Paulussen, Aimée D C, Zamani Esteki, Masoud

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Epstein-Barr Virus DNA Load in Nasopharyngeal Brushings and Whole Blood in Nasopharyngeal Carcinoma Patients before and after Treatment by ADHAM, Marlinda, GREIJER, Astrid E, ATMAKUSUMAH, Djumhana, STEVENS, Servi J. C, HERMANI, Bambang, BING TAN, I, MIDDELDORP, Jaap M, VERKUIJLEN, Sandra A. W. M, JUWANA, Hedy, FLEIG, Sabine, RACHMADI, Lisnawati, MALIK, Octavia, KURNIAWAN, A. N, ROEZIN, Averdi, GONDHOWIARDJO, Soehartati

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Liquid biopsy: state of reproductive medicine and beyond by Schobers, Gaby, Koeck, Rebekka, Pellaers, Dominique, Stevens, Servi J C, Macville, Merryn V E, Paulussen, Aimée D C, Coonen, Edith, van den Wijngaard, Arthur, de Die-Smulders, Christine, de Wert, Guido, Brunner, Han G, Zamani Esteki, Masoud

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Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development by Platzer, Konrad, Cogné, Benjamin, Hague, Jennifer, Marcelis, Carlo L., Mitter, Diana, Oberndorff, Katrin, Park, Soo‐Mi, Ploos van Amstel, Hans K., Simonic, Ingrid, van der Smagt, Jasper J., Stegmann, Alexander P.A., Stevens, Servi J.C., Stumpel, Constance T.R.M., Vincent, Marie, Lemke, Johannes R., Jamra, Rami

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NBEA: Developmental disease gene with early generalized epilepsy phenotypes by Mulhern, Maureen S., Stumpel, Constance, Stong, Nicholas, Brunner, Han G., Bier, Louise, Lippa, Natalie, Riviello, James, Rouhl, Rob P. W., Kempers, Marlies, Pfundt, Rolph, Stegmann, Alexander P. A., Kukolich, Mary K., Telegrafi, Aida, Lehman, Anna, Lopez‐Rangel, Elena, Houcinat, Nada, Barth, Magalie, den Hollander, Nicolette, Hoffer, Mariette J. V., Weckhuysen, Sarah, Roovers, Jolien, Djemie, Tania, Barca, Diana, Ceulemans, Berten, Craiu, Dana, Lemke, Johannes R., Korff, Christian, Mefford, Heather C., Meyers, Candace T., Siegler, Zsuzsanna, Hiatt, Susan M., Cooper, Gregory M., Bebin, E. Martina, Snijders Blok, Lot, Veenstra‐Knol, Hermine E., Baugh, Evan H., Brilstra, Eva H., Volker‐Touw, Catharina M. L., van Binsbergen, Ellen, Revah‐Politi, Anya, Pereira, Elaine, McBrian, Danielle, Pacault, Mathilde, Isidor, Bertrand, Le Caignec, Cedric, Gilbert‐Dussardier, Brigitte, Bilan, Frederic, Heinzen, Erin L., Goldstein, David B., Stevens, Servi J. C., Sands, Tristan T.

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Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing by Janssen, Anouk E. J., Koeck, Rebekka M., Essers, Rick, Cao, Ping, van Dijk, Wanwisa, Drüsedau, Marion, Meekels, Jeroen, Yaldiz, Burcu, van de Vorst, Maartje, de Koning, Bart, Hellebrekers, Debby M. E. I., Stevens, Servi J. C., Sun, Su Ming, Heijligers, Malou, de Munnik, Sonja A., van Uum, Chris M. J., Achten, Jelle, Hamers, Lars, Naghdi, Marjan, Vissers, Lisenka E. L. M., van Golde, Ron J. T., de Wert, Guido, Dreesen, Jos C. F. M., de Die-Smulders, Christine, Coonen, Edith, Brunner, Han G., van den Wijngaard, Arthur, Paulussen, Aimee D. C., Zamani Esteki, Masoud

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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study by van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., Galjaard, Robert-Jan H.

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature by Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J.M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B.A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T.R.M., Stevens, Servi J.C., Vermeulen, Jeroen R., van Harssel, Jeske V.T., Bosch, Danielle G.M., van Gassen, Koen L.I., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J.M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna

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The performance of genome sequencing as a first-tier test for neurodevelopmental disorders by van der Sanden, Bart P G H, Schobers, Gaby, Corominas Galbany, Jordi, Koolen, David A, Sinnema, Margje, van Reeuwijk, Jeroen, Stumpel, Connie T R M, Kleefstra, Tjitske, de Vries, Bert B A, Ruiterkamp-Versteeg, Martina, Leijsten, Nico, Kwint, Michael, Derks, Ronny, Swinkels, Hilde, den Ouden, Amber, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Stegmann, Alexander P, Stevens, Servi J, van den Wijngaard, Arthur, Brunner, Han G, Yntema, Helger G, Gilissen, Christian, Nelen, Marcel R, Vissers, Lisenka E L M

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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands by Olde Keizer, Richelle A. C. M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, Maaike, Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J. C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, Willem P., van Zelst-Stams, Wendy A. G., Frederix, Geert W. J., Vissers, Lisenka E. L. M.

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SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations by VAN UUM, Chris M. J, STEVENS, Servi J. C, DREESEN, Joseph C. F. M, DRÜSEDAU, Marion, SMEETS, Hubert J, HOLLANDERS-CROMBACH, Bertien, DE DIE-SMULDERS, Christine E. M, GERAEDTS, Joep Pm, ENGELEN, John J. M, COONEN, Edith

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Noninvasive diagnosis of nasopharyngeal carcinoma: Nasopharyngeal brushings reveal high Epstein‐Barr virus DNA load and carcinoma‐specific viral BARF1 mRNA by Stevens, Servi J.C., Verkuijlen, Sandra A.W.M., Hariwiyanto, Bambang, Harijadi, Paramita, Dewi K., Fachiroh, Jajah, Adham, Marlinda, Tan, I. Bing, Haryana, Sophia M., Middeldorp, Jaap M.

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All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultras... by 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

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The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene by Stevens, Servi J. C., Stumpel, Constance T. R. M., Diderich, Karin E. M., Slegtenhorst, Marjon A., Abbott, Mary‐Alice, Manning, Courtney, Balciuniene, Jorune, Pyle, Louise C., Leonard, Jacqueline, Murrell, Jill R., Putte, Romy, Rooij, Iris A. L. M., Hoischen, Alexander, Lasko, Paul, Brunner, Han G.

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Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway by Delanne, Julian, Lecat, Magaly, Blackburn, Patrick R., Klee, Eric W., Stumpel, Constance T.R.M., Stegmann, Sander, Stevens, Servi J.C., Nava, Caroline, Heron, Delphine, Keren, Boris, Mahida, Sonal, Naidu, Sakkubai, Babovic-Vuksanovic, Dusica, Herkert, Johanna C., Torring, Pernille M., Kibæk, Maria, De Bie, Isabelle, Pfundt, Rolph, Hendriks, Yvonne M.C., Ousager, Lilian Bomme, Bend, Renee, Warren, Hannah, Skinner, Steven A., Lyons, Michael J., Pöe, Charlotte, Chevarin, Martin, Jouan, Thibaud, Garde, Aurore, Thomas, Quentin, Kuentz, Paul, Tisserant, Emilie, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel

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MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions by Stevens, Servi J.C., van Ravenswaaij-Arts, Conny M.A., Janssen, Jannie W.H., Klein Wassink-Ruiter, Jolien S., van Essen, Anthonie J., Dijkhuizen, Trijnie, van Rheenen, Jeroen, Heuts-Vijgen, Regina, Stegmann, Alexander P.A., Smeets, Eric E.J.G.L., Engelen, John J.M.

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Diagnostic Value of Measuring Epstein-Barr Virus (EBV) DNA Load and Carcinoma-Specific Viral mRNA in Relation to Anti-EBV Immunoglobulin A (IgA) and IgG Antibody Levels in Blood of... by Stevens, Servi J. C, Verkuijlen, Sandra A. W. M, Hariwiyanto, Bambang, Harijadi, Fachiroh, Jajah, Paramita, Dewi K, Tan, I. Bing, Haryana, Sophia M, Middeldorp, Jaap M

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Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene by Schoot, Vyne, Munnik, Sonja, Venselaar, Hanka, Elting, Mariet, Mancini, Grazia M. S., Ravenswaaij‐Arts, Conny M. A., Anderlid, Britt‐Marie, Brunner, Han G., Stevens, Servi J. C.

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