POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum von Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld‐Huijssoon, Evelien, Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding‐Byth, Tracy, Simon, Marleen, Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, Bayat, Allan

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ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era von Shinar, Yael, Ceccherini, Isabella, Rowczenio, Dorota, Aksentijevich, Ivona, Arostegui, Juan, Ben-Chétrit, Eldad, Boursier, Guilaine, Gattorno, Marco, Hayrapetyan, Hasmik, Ida, Hiroaki, Kanazawa, Nobuo, Lachmann, Helen J, Mensa-Vilaro, Anna, Nishikomori, Ryuta, Oberkanins, Christian, Obici, Laura, Ohara, Osamu, Ozen, Seza, Sarkisian, Tamara, Sheils, Katie, Wolstenholme, Nicola, Zonneveld-Huijssoon, Evelien, van Gijn, Marielle E, Touitou, Isabelle

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Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome von Buijsse, Nathan, Jansen, Floor E, Ockeloen, Charlotte W, van Kempen, Marjan J A, Zeidler, Shimriet, Willemsen, Marjolein H, Scarano, Emanuela, Monticone, Sonia, Zonneveld-Huijssoon, Evelien, Low, Karen J, Bayat, Allan, Sisodiya, Sanjay M, Samanta, Debopam, Lesca, Gaetan, de Jong, Danielle, Giltay, Jaqcues C, Verbeek, Nienke E, Kleefstra, Tjitske, Brilstra, Eva H, Vlaskamp, Danique R M

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De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females von Scala, Marcello, Zonneveld-Huijssoon, Evelien, Brienza, Marianna, Mecarelli, Oriano, van der Hout, Annemarie H., Zambrelli, Elena, Turner, Katherine, Zara, Federico, Peron, Angela, Vignoli, Aglaia, Striano, Pasquale

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National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies von Elsink, Kim, Huibers, Manon M H, Hollink, Iris H I M, van der Veken, Lars T, Ernst, Robert F, Simons, Annet, Zonneveld-Huijssoon, Evelien, van der Hout, Annemieke H, Abbott, Kristin M, Hoischen, Alexander, Pieterse, Marc, Kuijpers, Taco W, van Montfrans, Joris M, van Gijn, Mariëlle E

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Safety of measles, mumps and rubella vaccination in juvenile idiopathic arthritis von Heijstek, Marloes W, Pileggi, Gecilmara C S, Zonneveld-Huijssoon, Evelien, Armbrust, Wineke, Hoppenreijs, Esther P A H, Uiterwaal, Cuno S P M, Kuis, Wietse, Wulffraat, Nico M

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Brief Report: Autologous Stem Cell Transplantation Restores Immune Tolerance in Experimental Arthritis by Renewal and Modulation of the Teff Cell Compartment von Delemarre, Eveline M., Roord, Sarah T. A., Broek, Theo, Zonneveld‐Huijssoon, Evelien, Jager, Wilco, Rozemuller, Henk, Martens, Anton C., Broere, Femke, Wulffraat, Nico M., Glant, Tibor T., Prakken, Berent J., Wijk, Femke

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Regulation of amniotic fluid volume: Intramembranous solute and volume fluxes in late gestation fetal sheep von Brace, Robert A., Vermin, Maria L., Huijssoon, Evelien

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Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis von Vorsteveld, Emil E., Van der Made, Caspar I., Smeekens, Sanne P., Schuurs-Hoeijmakers, Janneke H., Astuti, Galuh, Diepstra, Heleen, Gilissen, Christian, Hoenselaar, Evelien, Janssen, Alice, van Roozendaal, Kees, Engelen, Jettie Sikkema-van, Steyaert, Wouter, Weiss, Marjan M., Yntema, Helger G., Mantere, Tuomo, AlZahrani, Mofareh S., van Aerde, Koen, Derfalvi, Beata, Faqeih, Eissa Ali, Henriet, Stefanie S.V., van Hoof, Elise, Idressi, Eman, Issekutz, Thomas B., Jongmans, Marjolijn C.J., Keski-Filppula, Riikka, Krapels, Ingrid, te Loo, Maroeska, Mulders-Manders, Catharina M., ten Oever, Jaap, Potjewijd, Judith, Sarhan, Nora Tarig, Slot, Marjan C., Terhal, Paulien A., Thijs, Herman, Vandersteen, Anthony, Vanhoutte, Els K., van de Veerdonk, Frank, van Well, Gijs, Netea, Mihai G., Arts, Rob J.W., Bijker, Else M., Bruno, Mariolina, Hobo, Willemijn, Hoppenreijs, Esther, de Jonge, Marien I., van Laarhoven, Arjan, van der Molen, Renate, Oud, Manon, Schatorje, Ellen J.H., Smeets, Ruben, Sprenkeler, Evelien G.G., Stol, Kim, Verhagen, Lilly M., Zonneveld-Huijssoon, Evelien, Simons, Annet, Hoischen, Alexander

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Modulation of T cell function by combination of epitope specific and low dose anticytokine therapy controls autoimmune arthritis von Roord, Sarah T A, Zonneveld-Huijssoon, Evelien, Le, Tho, Yung, Gisella Puga, Koffeman, Eva, Ronaghy, Arash, Ghahramani, Negar, Lanza, Paola, Billetta, Rosario, Prakken, Berent J, Albani, Salvatore

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Cohesin complex-associated holoprosencephaly von Kruszka, Paul, Berger, Seth I, Casa, Valentina, Dekker, Mike R, Gaesser, Jenna, Weiss, Karin, Martinez, Ariel F, Murdock, David R, Louie, Raymond J, Prijoles, Eloise J, Lichty, Angie W, Brouwer, Oebele F, Zonneveld-Huijssoon, Evelien, Stephan, Mark J, Hogue, Jacob, Hu, Ping, Tanima-Nagai, Momoko, Everson, Joshua L, Prasad, Chitra, Cereda, Anna, Iascone, Maria, Schreiber, Allison, Zurcher, Vickie, Corsten-Janssen, Nicole, Escobar, Luis, Clegg, Nancy J, Delgado, Mauricio R, Hajirnis, Omkar, Balasubramanian, Meena, Kayserili, Hülya, Deardorff, Matthew, Poot, Raymond A, Wendt, Kerstin S, Lipinski, Robert J, Muenke, Maximilian

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B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability von Houge, Gunnar, Haesen, Dorien, Vissers, Lisenka E L M, Mehta, Sarju, Parker, Michael J, Wright, Michael, Vogt, Julie, McKee, Shane, Tolmie, John L, Cordeiro, Nuno, Kleefstra, Tjitske, Willemsen, Marjolein H, Reijnders, Margot R F, Berland, Siren, Hayman, Eli, Lahat, Eli, Brilstra, Eva H, van Gassen, Koen L I, Zonneveld-Huijssoon, Evelien, de Bie, Charlotte I, Hoischen, Alexander, Eichler, Evan E, Holdhus, Rita, Steen, Vidar M, Døskeland, Stein Ove, Hurles, Matthew E, FitzPatrick, David R, Janssens, Veerle

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Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene von Karimi, Karim, Mol, Merel O., Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Brooks, Alice, Zonneveld-Huijssoon, Evelien, Gerkes, Erica H., Tedder, Matthew L., Vissers, Lisenka, Salzano, Emanuela, Piccione, Maria, Asaftei, Sebastian Dorin, Carli, Diana, Mussa, Alessandro, Shukarova-Angelovska, Elena, Trajkova, Slavica, Brusco, Alfredo, Merla, Giuseppe, Alders, Marielle M., Bouman, Arjan, Sadikovic, Bekim

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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features von Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.

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POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum von Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L, Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F, Murch, Oliver, Irving, Rachel, Lynch, Sally A, Mehta, Sarju G, Carmichael, Jenny, Zonneveld-Huijssoon, Evelien, de Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M, Westphall, Ian T, Hughes, Susan S, Smithson, Sarah, Evans, Julie, Dudding-Byth, Tracy, Simon, Marleen, van Binsbergen, Ellen, Herkert, Johanna C, Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S, Rubboli, Guido, Bayat, Allan

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Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism von Lezzerini, Marco, Penzo, Marianna, O'Donohue, Marie-Françoise, Marques Dos Santos Vieira, Carolina, Saby, Manon, Elfrink, Hyung L, Diets, Illja J, Hesse, Anne-Marie, Couté, Yohann, Gastou, Marc, Nin-Velez, Alexandra, Nikkels, Peter G J, Olson, Alexandra N, Zonneveld-Huijssoon, Evelien, Jongmans, Marjolijn C J, Zhang, GuangJun, van Weeghel, Michel, Houtkooper, Riekelt H, Wlodarski, Marcin W, Kuiper, Roland P, Bierings, Marc B, van der Werff Ten Bosch, Jutte, Leblanc, Thierry, Montanaro, Lorenzo, Dinman, Jonathan D, Da Costa, Lydie, Gleizes, Pierre-Emmanuel, MacInnes, Alyson W

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Punctate White Matter Lesions in Full-Term Infants with Neonatal Seizures Associated with SLC13A5 Mutations von Weeke, Lauren C, Brilstra, Eva, Braun, Kees P, Zonneveld-Huijssoon, Evelien, Salomons, Gajja S, Koeleman, Bobby P, van Gassen, Koen L, van Straaten, Henrica L, Craiu, Dana, de Vries, Linda S

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Nasal Co-Administration of ISS Increases the Arthritis-Protective Effect of an HSP60-derived Peptide von Zonneveld-Huijssoon, Evelien, University Medical Center Utrecht, Pediatric Immunology, Utrecht, The Netherlands, van Wijk, Femke, University Medical Center Utrecht, Pediatric Immunology, Utrecht, The Netherlands, de Jager, Wilco, Mr, University Medical Center Utrecht, Pediatric Immunology, Utrecht, The Netherlands, Roord, Sarah, University Medical Center Utrecht, Pediatric Immunology, Utrecht, The Netherlands, Albani, Salvatore, University of California San Diego, Medicine and Pediatrics, La Jolla, CA, Kuis, Wietse, University Medical Center Utrecht, Pediatric Immunology, Utrecht, The Netherlands, Prakken, Berent, University Medical Center Utrecht, Pediatric Immunology, Utrecht, The Netherlands

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Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome von Buijsse, Nathan, Jansen, Floor E, Ockeloen, Charlotte W, van Kempen, Marjan J A, Zeidler, Shimriet, Willemsen, Marjolein H, Scarano, Emanuela, Monticone, Sonia, Zonneveld-Huijssoon, Evelien, Low, Karen J, Bayat, Allan, Sisodiya, Sanjay M, Samanta, Debopam, Lesca, Gaetan, de Jong, Danielle, Giltay, Jaqcues C, Verbeek, Nienke E, Kleefstra, Tjitske, Brilstra, Eva H, Vlaskamp, Danique R M

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TLR9 agonist CpG enhances protective nasal HSP60 peptide vaccine efficacy in experimental autoimmune arthritis von Zonneveld-Huijssoon, Evelien, van Wijk, Femke, Roord, Sarah, Delemarre, Eveline, Meerding, Jenny, de Jager, Wilco, Klein, Mark, Raz, Eyal, Albani, Salvatore, Kuis, Wietse, Boes, Marianne, Prakken, Berent J

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