Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics von Lee, Maaike, Allard, William G., Bollen, Sander, Santen, Gijs W. E., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Kriek, Marjolein, Guchelaar, Henk‐Jan, Anvar, Seyed Y., Swen, Jesse J.

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Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome? von Sun, Yu, Ruivenkamp, Claudia A.L., Hoffer, Mariëtte J.V., Vrijenhoek, Terry, Kriek, Marjolein, van Asperen, Christi J., den Dunnen, Johan T., Santen, Gijs W.E.

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CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype von Menke, Leonie A., van Belzen, Martine J., Alders, Marielle, Cristofoli, Francesca, Ehmke, Nadja, Fergelot, Patricia, Foster, Alison, Gerkes, Erica H., Hoffer, Mariëtte J. V., Horn, Denise, Kant, Sarina G., Lacombe, Didier, Leon, Eyby, Maas, Saskia M., Melis, Daniela, Muto, Valentina, Park, Soo-Mi, Peeters, Hilde, Peters, Dorien J. M., Pfundt, Rolph, van Ravenswaaij-Arts, Conny M. A., Tartaglia, Marco, Hennekam, Raoul C. M.

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The prevalence of genetic diagnoses in fetuses with severe congenital heart defects von van Nisselrooij, Amber E. L., Lugthart, Malou A., Clur, Sally-Ann, Linskens, Ingeborg H., Pajkrt, Eva, Rammeloo, Lukas A., Rozendaal, Lieke, Blom, Nico A., van Lith, Jan M. M., Knegt, Alida C., Hoffer, Mariëtte J. V., Aten, Emmelien, Santen, Gijs W. E., Haak, Monique C.

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Single Molecule Sequencing of Free DNA from Maternal Plasma for Noninvasive Trisomy 21 Detection von VAN DEN OEVER, Jessica M. E, BALKASSMI, Sahila, BOON, Elles M. J, JOANNE VERWEIJ, E, ITERSON, Maarten Van, ADAMA VAN SCHELTEMA, Phebe N, OEPKES, Dick, VAN LITH, Jan M. M, HOFFER, Mariëtte J. V, DEN DUNNEN, Johan T, BAKKER, Egbert

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From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care von de Koning, Maayke A., Haak, Monique C., Adama van Scheltema, Phebe N., Peeters-Scholte, Cacha M. P. C. D., Koopmann, Tamara T., Nibbeling, Esther A. R., Aten, Emmelien, den Hollander, Nicolette S., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Santen, Gijs W. E.

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Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt von Pelgrims, Elise, Lynch, Sally Ann, Hannes, Laurens, Hoffer, Mariëtte J. V., Melotte, Cindy, Van Haeringen, Arie, Swillen, Ann, Breckpot, Jeroen

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The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study von Eggenhuizen, Geerke M., Go, Attie T. J. I., Sauter, Zoë, Hoffer, Mariëtte J. V., Haak, Monique C., Geeven, Geert, Diderich, Karin E. M., Joosten, Marieke, Born, Myrthe, Srebniak, Malgorzata I., Opstal, Diane

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Confined Placental Mosaicism Detected With Non-Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome? von Eggenhuizen, Geerke M, Go, Attie T J I, Hoffer, Mariëtte J V, Goedegebuur-Zwalua, Eveline, Srebniak, Malgorzata I, Van Opstal, Diane

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European Non-Invasive Trisomy Evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing von Verweij, E. J., Jacobsson, B., van Scheltema, P. A., de Boer, M. A., Hoffer, M. J. V., Hollemon, D., Westgren, M., Song, K., Oepkes, D.

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Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies von Khan, Saadullah, Ullah, Imran, Nasir, Abdul, Meijer, C. Arnoud, Laurense-Bik, Marlies, den Dunnen, Johan T., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Santen, Gijs W. E., Ahmad, Wasim

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A Survey and Categorization of Small Low-Cost Unmanned Aerial Vehicle System Identification von Hoffer, Nathan V., Coopmans, Calvin, Jensen, Austin M., Chen, YangQuan

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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants von Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariëtte J. V., Van der Ven, Amelie, Thiele, Holger, Altmüller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K., Lessel, Davor

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Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders von Sollis, Elliot, Deriziotis, Pelagia, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi, Hoffer, Mariëtte J.V., Ruivenkamp, Claudia A.L., Alders, Mariëlle, Okamoto, Nobuhiko, Bijlsma, Emilia K., Plomp, Astrid S., Fisher, Simon E.

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Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome von van der Laan, Liselot, Rooney, Kathleen, Alders, Mariëlle, Relator, Raissa, McConkey, Haley, Kerkhof, Jennifer, Levy, Michael A, Lauffer, Peter, Aerden, Mio, Theunis, Miel, Legius, Eric, Tedder, Matthew L, Vissers, Lisenka E L M, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette J V, Wieczorek, Dagmar, Bramswig, Nuria C, Herget, Theresia, González, Vanesa López, Santos-Simarro, Fernando, Tørring, Pernille M, Denomme-Pichon, Anne-Sophie, Isidor, Bertrand, Keren, Boris, Julia, Sophie, Schaefer, Elise, Francannet, Christine, Maillard, Pierre-Yves, Misra-Isrie, Mala, Van Esch, Hilde, Mannens, Marcel M A M, Sadikovic, Bekim, van Haelst, Mieke M, Henneman, Peter

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Anaphylaxis in Israel: Experience with 92 hospitalized children von Hoffer, V., Scheuerman, O., Marcus, N., Levy, Y., Segal, N., Lagovsky, I., Monselise, Y., Garty, B. Z.

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Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major von Harteveld, Cornelis L., Refaldi, Chiara, Giambona, Antonino, Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Pijpe, Jeroen, De Knijff, Peter, Borgna-Pignatti, Caterina, Maggio, Aurelio, Cappellini, Maria D., Giordano, Piero C.

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The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes von Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K. M., Rooney, Kathleen, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M., Vissers, Lisenka E. L. M., de Vries, Bert B. A., Pfundt, Rolph, Elting, Mariet W., van Hagen, Johanna M., Verbeek, Nienke E., Jongmans, Marjolijn C. J., Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G. M., Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E., Ounap, Katrin, Hoffer, Mariëtte J. V., Nezarati, Marjan M., van den Boogaard, Marie-José H., Tedder, Matthew L., Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B., Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J., Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A. M., Stuurman, Kyra E., Mannens, Marcel M. A. M., Alders, Mariëlle, Henneman, Peter, White, Susan M., Sadikovic, Bekim, van Haelst, Mieke M.

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Functional hyposplenism is an important and underdiagnosed immunodeficiency condition in children von Scheuerman, O., Bar-Sever, Z., Hoffer, V., Gilad, O., Marcus, N., Garty, B.Z.

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Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus von Traeger‐Synodinos, Joanne, Bosch, Cathy A. J., Vrettou, Christina, Maragoudaki, Lena, Apostolidis, Janos, Kanavakis, Emmanuel, Kattamis, Christos, Arkesteijn, Sandra G. J., Hoffer, Mariëtte J. V., Ruivenkamp, Claudia A. L., Harteveld, Cornelis L.

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