A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release von van Boven, Maaike A., Mestroni, Marta, Zwijnenburg, Petra J. G., Verhage, Matthijs, Cornelisse, L. Niels

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Identical but not the same: The value of discordant monozygotic twins in genetic research von Zwijnenburg, Petra J.G., Meijers-Heijboer, Hanne, Boomsma, Dorret I.

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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity von Asselin, Laure, Rivera Alvarez, José, Heide, Solveig, Bonnet, Camille S., Tilly, Peggy, Vitet, Hélène, Weber, Chantal, Bacino, Carlos A., Baranaño, Kristin, Chassevent, Anna, Dameron, Amy, Faivre, Laurence, Hanchard, Neil A., Mahida, Sonal, McWalter, Kirsty, Mignot, Cyril, Nava, Caroline, Rastetter, Agnès, Streff, Haley, Thauvin-Robinet, Christel, Weiss, Marjan M., Zapata, Gladys, Zwijnenburg, Petra J. G., Saudou, Frédéric, Depienne, Christel, Golzio, Christelle, Héron, Delphine, Godin, Juliette D.

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Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders von Overwater, Eline, Marsili, Luisa, Baars, Marieke J.H., Baas, Annette F., de Beek, Irma, Dulfer, Eelco, Hagen, Johanna M., Hilhorst‐Hofstee, Yvonne, Kempers, Marlies, Krapels, Ingrid P., Menke, Leonie A., Verhagen, Judith M.A., Yeung, Kak K., Zwijnenburg, Petra J.G., Groenink, Maarten, Rijn, Peter, Weiss, Marjan M., Voorhoeve, Els, Tintelen, J. Peter, Houweling, Arjan C., Maugeri, Alessandra

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Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features von Stolerman, Elliot S., Francisco, Elizabeth, Stallworth, Jennifer L., Jones, Julie R., Monaghan, Kristin G., Keller‐Ramey, Jennifer, Person, Richard, Wentzensen, Ingrid M., McWalter, Kirsty, Keren, Boris, Heron, Benedicte, Nava, Caroline, Heron, Delphine, Kim, Katherine, Burton, Barbara, Al‐Musafri, Fatima, O'Grady, Lauren, Sahai, Inderneel, Escobar, Luis F., Meuwissen, Marije, Reyniers, Edwin, Kooy, Frank, Lacassie, Yves, Gunay‐Aygun, Meral, Schatz, Krista Sondergaard, Hochstenbach, Ron, Zwijnenburg, Petra J.G., Waisfisz, Quinten, Slegtenhorst, Marjon, Mancini, Grazia M.S., Louie, Raymond J.

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The Incidence of Associated Anomalies in Children with Congenital Duodenal Obstruction-A Retrospective Cohort Study of 112 Patients von Pijpers, Adinda G H, Eeftinck Schattenkerk, Laurens D, Straver, Bart, Zwijnenburg, Petra J G, Broers, Chantal J M, Van Heurn, Ernest L W, Gorter, Ramon R, Derikx, Joep P M

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Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency von Lemmens, Robin, Maugeri, Alessandra, Niessen, Hans W M, Goris, An, Tousseyn, Thomas, Demaerel, Philippe, Corveleyn, Anniek, Robberecht, Wim, van der Knaap, Marjo S, Thijs, Vincent N, Zwijnenburg, Petra J G

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IL-1 Receptor Type 1 Gene-Deficient Mice Demonstrate an Impaired Host Defense Against Pneumococcal Meningitis von Zwijnenburg, Petra J. G, van der Poll, Tom, Florquin, Sandrine, Roord, John J, van Furth, A. Marceline

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The importance of screening for additional anomalies in patients with anorectal malformations: A retrospective cohort study von de Beaufort, Cunera M.C., van den Akker, Alex C.M., Kuijper, Caroline F., Broers, Chantal J.M., de Jong, Justin R., de Beer, Sjoerd A., Straver, Bart, Zwijnenburg, Petra J.G., Gorter, Ramon R.

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PITX2 and FOXC1 spectrum of mutations in ocular syndromes von REIS, Linda M, TYLER, Rebecca C, SEMINA, Elena V, KLOSS, Bethany A.volkmann, SCHILTER, Kala F, LEVIN, Alex V, LOWRY, R. Brian, ZWIJNENBURG, Petra Jg, STROH, Eliza, BROECKEL, Ulrich, MURRAY, Jeffrey C

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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities von Schneeberger, Pauline E., von Elsner, Leonie, Barker, Emma L., Meinecke, Peter, Marquardt, Iris, Alawi, Malik, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Zwijnenburg, Petra J.G., Weiss, Marjan M., Merry, Catherine L.R., Kutsche, Kerstin

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Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development von Cappello, Silvia, Gray, Mary J, Badouel, Caroline, Lange, Simona, Einsiedler, Melanie, Srour, Myriam, Chitayat, David, Hamdan, Fadi F, Jenkins, Zandra A, Morgan, Tim, Preitner, Nadia, Uster, Tami, Thomas, Jackie, Shannon, Patrick, Morrison, Victoria, Di Donato, Nataliya, Van Maldergem, Lionel, Neuhann, Teresa, Newbury-Ecob, Ruth, Swinkells, Marielle, Terhal, Paulien, Wilson, Louise C, Zwijnenburg, Petra J G, Sutherland-Smith, Andrew J, Black, Michael A, Markie, David, Michaud, Jacques L, Simpson, Michael A, Mansour, Sahar, McNeill, Helen, Götz, Magdalena, Robertson, Stephen P

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Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney von Westland, Rik, Verbitsky, Miguel, Vukojevic, Katarina, Perry, Brittany J., Fasel, David A., Zwijnenburg, Petra J.G., Bökenkamp, Arend, Gille, Johan J.P., Saraga-Babic, Mirna, Ghiggeri, Gian Marco, D'Agati, Vivette D., Schreuder, Michiel F., Gharavi, Ali G., van Wijk, Joanna A.E., Sanna-Cherchi, Simone

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Chemotactic Factors in Cerebrospinal Fluid during Bacterial Meningitis von Zwijnenburg, Petra J. G, Poll, Tom van der, Roord, John J, Furth, A. Marceline van

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C1 Inhibitor Treatment Improves Host Defense in Pneumococcal Meningitis in Rats and Mice von Zwijnenburg, Petra J. G., Poll, Tom van der, Florquin, Sandrine, Polfliet, Machteld M. J., van den Berg, Timo K., Dijkstra, Christine D., Roord, John J., Erik Hack, C., Marceline van Furth, A.

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DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7 von van der Laan, Liselot, Karimi, Karim, Rooney, Kathleen, Lauffer, Peter, McConkey, Haley, Caro, Pilar, Relator, Raissa, Levy, Michael A., Bhai, Pratibha, Mignot, Cyril, Keren, Boris, Briuglia, Silvana, Sobering, Andrew K., Li, Dong, Vissers, Lisenka E.L.M., Dingemans, Alexander J.M., Valenzuela, Irene, Verberne, Eline A., Misra-Isrie, Mala, Zwijnenburg, Petra J.G., Waisfisz, Quinten, Alders, Mariëlle, Sailer, Sebastian, Schaaf, Christian P., Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

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5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome von Bayat, Allan, Bayat, Michael, Broers, Chantal, Polstra, Abeltje M., Zwijnenburg, Petra J. G., Hjortshøj, Tina Duelund

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Experimental Pneumococcal Meningitis in Mice: A Model of Intranasal Infection von Zwijnenburg, Petra J. G., van der Poll, Tom, Florquin, Sandrine, van Deventer, Sander J. H., Roord, John J., van Furth, A. Marceline

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Meningeal and Perivascular Macrophages of the Central Nervous System Play a Protective Role During Bacterial Meningitis von Polfliet, Machteld M. J, Zwijnenburg, Petra J. G, van Furth, A. Marceline, van der Poll, Tom, Dopp, Ed A, Renardel de Lavalette, Chantal, van Kesteren-Hendrikx, Esther M. L, van Rooijen, Nico, Dijkstra, Christien D, van den Berg, Timo K

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Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance von MANSOUR, Sahar, SWINKELS, Marielle, TERHAL, Paulien A, WILSON, Louise C, RICH, Philip, VAN MALDERGEM, Lionel, ZWIJNENBURG, Petra Jg, HALL, Christine M, ROBERTSON, Stephen P, NEWBURY-ECOB, Ruth

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