Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype von van Ommeren, Babeth, Hoekstra, Maud, van Gassen, Koen, van Jaarsveld, Richard, van Haaften, Gijs, Mathijssen, Irene, Dammers, Ruben, van Veelen, Marie-Lise, Baars, Rolanda, Giltay, Jacques C

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LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome von Pozojevic, Jelena, Sivaprasad, Radhika, Laß, Joshua, Haarich, Franziska, Trinh, Joanne, Kakar, Naseebullah, Schulz, Kristin, Händler, Kristian, Verrijn Stuart, Annemarie A., Giltay, Jacques C., van Gassen, Koen L., Caliebe, Almuth, Holterhus, Paul-Martin, Spielmann, Malte, Hornig, Nadine C.

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Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control von Tessadori, Federico, Giltay, Jacques C, Hurst, Jane A, Massink, Maarten P, Duran, Karen, Vos, Harmjan R, van Es, Robert M, Scott, Richard H, van Gassen, Koen L I, Bakkers, Jeroen, van Haaften, Gijs

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Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors von Kooij, Cezanne D, Mavinkurve-Groothuis, Annelies M.C, Hovinga, Idske C.L. Kremer, Looijenga, Leendert H.J, Rinne, Tuula, Giltay, Jacques C, Kort, Laetitia M.O. de, Klijn, Aart J, Krijger, Ronald R. de, Stuart, Annemarie A. Verrijn

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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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Further confirmation of the MED13L haploinsufficiency syndrome von van Haelst, Mieke M, Monroe, Glen R, Duran, Karen, van Binsbergen, Ellen, Breur, Johannes M, Giltay, Jacques C, van Haaften, Gijs

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Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients von van Eerde, Albertien M, Duran, Karen, van Riel, Els, de Kovel, Carolien G F, Koeleman, Bobby P C, Knoers, Nine V A M, Renkema, Kirsten Y, van der Horst, Henricus J R, Bökenkamp, Arend, van Hagen, Johanna M, van den Berg, Leonard H, Wolffenbuttel, Katja P, van den Hoek, Joop, Feitz, Wouter F, de Jong, Tom P V M, Giltay, Jacques C, Wijmenga, Cisca

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Heterozygous Variants in the DNA‐binding Domain of c‐Myb May Affect Normal B/T Cell Development von Smits, Bas M., Hartley, Taila, Dünnebach, Ester, Bartels, Marije, Boycott, Kim M., Kernohan, Kirstin D., Dyment, David A., Giltay, Jacques C., Haddad, Elie, Jarinova, Olga, Montfrans, Joris, Royen‐Kerkhof, Annet, Veken, Lars T., Witte, Moniek, Nierkens, Stefan, Pham‐Huy, Anne, Leavis, Helen L.

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Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI) von Janse, Femi, M.D, de With, Larissa M., M.D, Duran, Karen J., Ph.D, Kloosterman, Wigard P., Ph.D, Goverde, Angelique J., M.D., Ph.D, Lambalk, Cornelius B., M.D., Ph.D, Laven, Joop S.E., M.D., Ph.D, Fauser, Bart C.J.M., M.D., Ph.D, Giltay, Jacques C., M.D., Ph.D

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Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability von Willems, Anke P., Gundogdu, Mehmet, Kempers, Marlies J.E., Giltay, Jacques C., Pfundt, Rolph, Elferink, Martin, Loza, Bettina F., Fuijkschot, Joris, Ferenbach, Andrew T., van Gassen, Koen L.I., van Aalten, Daan M.F., Lefeber, Dirk J.

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Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample von Boks, Marco P.M, de Vette, Marjolein H.T, Sommer, Iris E, van Rijn, Sophie, Giltay, Jacques C, Swaab, Hanna, Kahn, René S

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Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations von Van Montfrans, Joris M, Hartman, Esther A R, Braun, Kees P J, Hennekam, Eric A M, Hak, Elisabeth A, Nederkoorn, Paul J, Westendorp, Willeke F, Bredius, Robbert G M, Kollen, Wouter J W, Schölvinck, Elisabeth H, Legger, G Elizabeth, Meyts, Isabelle, Liston, Adrian, Lichtenbelt, Klaske D, Giltay, Jacques C, Van Haaften, Gijs, De Vries Simons, Gaby M, Leavis, Helen, Sanders, Cornelis J G, Bierings, Marc B, Nierkens, Stefan, Van Gijn, Marielle E

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Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT von Nicolaou, Nayia, Pulit, Sara L., Nijman, Isaac J., Monroe, Glen R., Feitz, Wout F.J., Schreuder, Michiel F., van Eerde, Albertien M., de Jong, Tom P.V.M., Giltay, Jacques C., van der Zwaag, Bert, Havenith, Marlies R., Zwakenberg, Susan, van der Zanden, Loes F.M., Poelmans, Geert, Cornelissen, Elisabeth A.M., Lilien, Marc R., Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A.L.M., Cuppen, Edwin, Bongers, Ernie M.H.F., Giles, Rachel H., Knoers, Nine V.A.M., Renkema, Kirsten Y.

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Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue von Theil, Arjan F, Mandemaker, Imke K, van den Akker, Emile, Swagemakers, Sigrid M A, Raams, Anja, Wüst, Tatjana, Marteijn, Jurgen A, Giltay, Jacques C, Colombijn, Richard M, Moog, Ute, Kotzaeridou, Urania, Ghazvini, Mehrnaz, von Lindern, Marieke, Hoeijmakers, Jan H J, Jaspers, Nicolaas G J, van der Spek, Peter J, Vermeulen, Wim

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A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder von Tessadori, Federico, Rehman, Atteeq U., Giltay, Jacques C., Xia, Fan, Streff, Haley, Duran, Karen, Bakkers, Jeroen, Lalani, Seema R., van Haaften, Gijs

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Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications von Kremer Hovinga, Idske C.L., Giltay, Jacques C., Crabben, Saskia N., Steyls, Anja, Kamp, Hetty J., Paulussen, Aimee D.C.

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Phenotype delineation of ZNF462 related syndrome von Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogné, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., Gassen, Koen L. I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez‐Lara, Pedro A., Kinning, Esther, Adams, Darius J., Treat, Kayla, Torres‐Martinez, Wilfredo, Bedeschi, Maria F., Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie‐Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez‐Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., Muenke, Maximilian

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Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux von Lu, Weining, van Eerde, Albertien M., Fan, Xueping, Quintero-Rivera, Fabiola, Kulkarni, Shashikant, Ferguson, Heather, Kim, Hyung-Goo, Fan, Yanli, Xi, Qiongchao, Li, Qing-gang, Sanlaville, Damien, Andrews, William, Sundaresan, Vasi, Bi, Weimin, Yan, Jiong, Giltay, Jacques C., Wijmenga, Cisca, de Jong, Tom P. V.M., Feather, Sally A., Woolf, Adrian S., Rao, Yi, Lupski, James R., Eccles, Michael R., Quade, Bradley J., Gusella, James F., Morton, Cynthia C., Maas, Richard L.

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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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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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