Response to letter to the editor: ‘Gonadal tumour screening in XY gonadal dysgenesis’ von Hannema, Sabine E., Wolffenbuttel, Katja P., Bever, Yolande, Bruggenwirth, Hennie T., Hersmus, Remko, Oosterhuis, J. Wolter, Looijenga, Leendert H. J.

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High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing von Douben, Hannie C. W., Nellist, Mark, Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, Hoogeveen‐Westerveld, Marianne, Louwen, Jesse, Veghel‐Plandsoen, Monique, Valk, Walter, Saris, Jasper J., Hendriks, Femke, Korpershoek, Esther, Hoefsloot, Lies H., Vliet, Margreethe, Bever, Yolande, Laar, Ingrid, Aten, Emmelien, Lachmeijer, Augusta M. A., Taal, Walter, Bersselaar, Lisa, Schuurmans, Juliette, Oostenbrink, Rianne, Minkelen, Rick, Ierland, Yvette, Ham, Tjakko J.

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Undetectable anti‐Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis von Hannema, Sabine E., Wolffenbuttel, Katja P., Bever, Yolande, Brüggenwirth, Hennie T., Berg, Sjoerd A. A., Hersmus, Remko, Oosterhuis, J. Wolter, Looijenga, Leendert H. J.

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Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome von Douben, Hannie, Hoogeveen-Westerveld, Marianne, Nellist, Mark, Louwen, Jesse, Haan, Marian Kroos-de, Punt, Mattijs, van Ommeren, Babeth, van Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, van Bever, Yolande, van Vliet, Margreethe, Oostenbrink, Rianne, Saris, Jasper J., Wagner, Anja, van Ierland, Yvette, van Ham, Tjakko, van Minkelen, Rick

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The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations von Woerden, Geeske M., Senden, Richelle, Konink, Charlotte, Trezza, Rossella A., Baban, Anwar, Bassetti, Jennifer A., Bever, Yolande, Bird, Lynne M., Bon, Bregje W., Brooks, Alice S., Guan, Qiaoning, Klee, Eric W., Marcelis, Carlo, Rosado, Joel M., Schimmenti, Lisa A., Shikany, Amy R., Terhal, Paulien A., Nicole Weaver, Kathryn, Wessels, Marja W., Wieringen, Hester, Hurst, Anna C., Gooch, Catherine F., Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet

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The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies von Diderich, Karin E. M., Romijn, Kathleen, Joosten, Marieke, Govaerts, Lutgarde C. P., Polak, Marike, Bruggenwirth, Hennie T., Wilke, Martina, Slegtenhorst, Marjon A., Bever, Yolande, Brooks, Alice S., Mancini, Grazia M. S., Laar, Ingrid M. B. H., Kromosoeto, Joan N. R., Knapen, Maarten F. C. M., Go, Attie T. J. I., Van Opstal, Diane, Hoefsloot, Lies H., Galjaard, Robert‐Jan H., Srebniak, Malgorzata I.

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Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes von Bever, Yolande, Groenenberg, Irene A. L., Knapen, Maarten F. C. M., Dessens, Arianne B., Hannema, Sabine E., Wolffenbuttel, Katja P., Diderich, Karin E. M., Hoefsloot, Lies H., Srebniak, Malgorzata I., Bruggenwirth, Hennie T.

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WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins von Sorokina, Elena A., Reis, Linda M., Thompson, Samuel, Agre, Katherine, Babovic-Vuksanovic, Dusica, Ellingson, Marissa S., Hasadsri, Linda, van Bever, Yolande, Semina, Elena V.

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The biology of germ cell tumors in disorders of sex development von Hersmus, Remko, Bever, Yolande, Wolffenbuttel, Katja P., Biermann, Katharina, Cools, Martine, Looijenga, Leendert H.J.

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Genome-wide methylation analysis in patients with proximal hypospadias - a pilot study and review of the literature von van Bever, Yolande, Boers, Ruben G, Brüggenwirth, Hennie T, van IJcken, Wilfred Fj, Magielsen, Frank J, de Klein, Annelies, Boers, Joachim B, Looijenga, Leendert Hj, Brosens, Erwin, Gribnau, Joost, Hannema, Sabine E

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DOORS syndrome and a recurrent truncating ATP6V1B2 variant von Beauregard-Lacroix, Eliane, Pacheco-Cuellar, Guillermo, Ajeawung, Norbert F., Tardif, Jessica, Dieterich, Klaus, Dabir, Tabib, Vind-Kezunovic, Dina, White, Susan M., Zadori, Denes, Castiglioni, Claudia, Tranebjærg, Lisbeth, Tørring, Pernille Mathiesen, Blair, Ed, Wisniewska, Marzena, Camurri, Maria Vittoria, van Bever, Yolande, Molidperee, Sirinart, Taylor, Juliet, Dionne-Laporte, Alexandre, Sisodiya, Sanjay M., Hennekam, Raoul C.M., Campeau, Philippe M.

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Intrinsic Cellular Susceptibility to Barrett's Esophagus in Adults Born with Esophageal Atresia von Ten Kate, Chantal A, de Klein, Annelies, de Graaf, Bianca M, Doukas, Michail, Koivusalo, Antti, Pakarinen, Mikko P, van der Helm, Robert, Brands, Tom, IJsselstijn, Hanneke, van Bever, Yolande, Wijnen, René M H, Spaander, Manon C W, Brosens, Erwin

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Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant von Beauregard-Lacroix, Eliane, Pacheco-Cuellar, Guillermo, Ajeawung, Norbert F., Tardif, Jessica, Dieterich, Klaus, Dabir, Tabib, Vind-Kezunovic, Dina, White, Susan M., Zadori, Denes, Castiglioni, Claudia, Tranebjærg, Lisbeth, Tørring, Pernille Mathiesen, Blair, Ed, Wisniewska, Marzena, Camurri, Maria Vittoria, van Bever, Yolande, Molidperee, Sirinart, Taylor, Juliet, Dionne-Laporte, Alexandre, Sisodiya, Sanjay M., Hennekam, Raoul C.M., Campeau, Philippe M.

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Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology von Brosens, Erwin, Brouwer, Rutger W W, Douben, Hannie, van Bever, Yolande, Brooks, Alice S, Wijnen, Rene M H, van IJcken, Wilfred F J, Tibboel, Dick, Rottier, Robbert J, de Klein, Annelies

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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature von van der Laan, Liselot, Silva, Ananília, Kleinendorst, Lotte, Rooney, Kathleen, Haghshenas, Sadegheh, Lauffer, Peter, Alanay, Yasemin, Bhai, Pratibha, Brusco, Alfredo, de Munnik, Sonja, de Vries, Bert B.A., Vega, Angelica Delgado, Engelen, Marc, Herkert, Johanna C., Hochstenbach, Ron, Hopman, Saskia, Kant, Sarina G., Kira, Ryutaro, Kato, Mitsuhiro, Keren, Boris, Kroes, Hester Y., Levy, Michael A., Lock-Hock, Ngu, Maas, Saskia M., Mancini, Grazia M.S., Marcelis, Carlo, Matsumoto, Naomichi, Mizuguchi, Takeshi, Mussa, Alessandro, Mignot, Cyril, Närhi, Anu, Nordgren, Ann, Pfundt, Rolph, Polstra, Abeltje M., Trajkova, Slavica, van Bever, Yolande, José van den Boogaard, Marie, van der Smagt, Jasper J., Barakat, Tahsin Stefan, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

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Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report von Eleftheriadou, Maria, Medici‐ van den Herik, Evita, Stuurman, Kyra, Bever, Yolande, Hellebrekers, Debby M. E. I., Slegtenhorst, Marjon, Ruijter, George, Barakat, Tahsin Stefan

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Infantile hypertrophic pyloric stenosis in patients with esophageal atresia von Kate, Chantal A., Brouwer, Rutger W. W., Bever, Yolande, Martens, Vera K., Brands, Tom, Beelen, Nicole W. G., Brooks, Alice S., Huigh, Daphne, Helm, Robert M., Eussen, Bert H. F. M. M., IJcken, Wilfred F. J., IJsselstijn, Hanneke, Tibboel, Dick, Wijnen, Rene M. H., Klein, Annelies, Hofstra, Robert M. W., Brosens, Erwin

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Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) von Rooms, Liesbeth, Reyniers, Edwin, Luijk, Rob van, Scheers, Stefaan, Wauters, Jan, Ceulemans, Berten, Van Den Ende, Jenneke, Van Bever, Yolande, Kooy, R. Frank

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Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia von Hellemans, Jan, Simon, Marleen, Dheedene, Annelies, Alanay, Yasemin, Mihci, Ercan, Rifai, Laila, Sefiani, Abdelaziz, van Bever, Yolande, Meradji, Morteza, Superti-Furga, Andrea, Mortier, Geert

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The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes von Paulussen, Aimée DC, Schrander-Stumpel, Constance T, Tserpelis, Demis C J, Spee, Matteus K M, Stegmann, Alexander P A, Mancini, Grazia M, Brooks, Alice S, Collée, Margriet, Maat-Kievit, Anneke, Simon, Marleen E H, van Bever, Yolande, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, Wilhelmina S, Herkert, Johanna C, van Essen, Anthonie J, Lichtenbelt, Klaske D, van Haeringen, Arie, Kwee, Mei L, Lachmeijer, Augusta M A, Tan-Sindhunata, Gita M B, van Maarle, Merel C, Arens, Yvonne H J M, Smeets, Eric E J G L, de Die-Smulders, Christine E, Engelen, John J M, Smeets, Hubertus J, Herbergs, Jos

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