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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A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity von Kuijpers, Taco W., MD, PhD, Baars, Paul A., PhD, aan de Kerk, Daan J., MD, Jansen, Machiel H, Derks, Ingrid A.M, Bredius, Robbert G.M., MD, PhD, Sanders, Elisabeth A.M., MD, PhD, van der Burg, Mirjam, MD, PhD, Alders, Marielle, MD, PhD, van Lier, Rene A.W., MD, PhD

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A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence von Marsman, Roos F., MD, Barc, Julien, PhD, Beekman, Leander, BSc, Alders, Marielle, PhD, Dooijes, Dennis, PhD, van den Wijngaard, Arthur, PhD, Ratbi, Ilham, MD, Sefiani, Abdelaziz, MD, PhD, Bhuiyan, Zahurul A., MD, PhD, Wilde, Arthur A.M., MD, PhD, Bezzina, Connie R., PhD

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Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: The experience of a tertiary referral center in The Netherlands von van der Werf, Christian, MD, Hofman, Nynke, MSc, Tan, Hanno L., MD, PhD, van Dessel, Pascal F., MD, PhD, Alders, Marielle, PhD, van der Wal, Allard C., MD, PhD, van Langen, Irene M., MD, PhD, Wilde, Arthur A.M., MD, PhD

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Active Cascade Screening in Primary Inherited Arrhythmia Syndromes von Hofman, Nynke, MSc, Tan, Hanno L., MD, PhD, Alders, Marielle, PhD, van Langen, Irene M., MD, PhD, Wilde, Arthur A.M., MD, PhD

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An international compendium of mutations in the SCN5A -encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing von Kapplinger, Jamie D., BA, Tester, David J., BS, Alders, Marielle, PhD, Benito, Begoña, MD, Berthet, Myriam, BA, Brugada, Josep, MD, PhD, Brugada, Pedro, MD, PhD, Fressart, Véronique, MD, Guerchicoff, Alejandra, PhD, Harris-Kerr, Carole, PhD, Kamakura, Shiro, MD, PhD, Kyndt, Florence, PhD, Koopmann, Tamara T., PhD, Miyamoto, Yoshihiro, MD, Pfeiffer, Ryan, BS, Pollevick, Guido D., PhD, Probst, Vincent, MD, PhD, Zumhagen, Sven, MD, Vatta, Matteo, PhD, Towbin, Jeffrey A., MD, Shimizu, Wataru, MD, PhD, Schulze-Bahr, Eric, MD, Antzelevitch, Charles, PhD, Salisbury, Benjamin A., PhD, Guicheney, Pascale, PhD, Wilde, Arthur A.M., MD, PhD, Brugada, Ramon, MD, PhD, Schott, Jean-Jacques, PhD, Ackerman, Michael J., MD, PhD

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Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients von Zwaveling-Soonawala, Nitash, Alders, Marielle, Jongejan, Aldo, Kovačič, Lidija, Duijkers, Floor A, Maas, Saskia M, Fliers, Eric, van Trotsenburg, A S Paul, Hennekam, Raoul C

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Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus von Valente, Federica Maria, Sparago, Angela, Freschi, Andrea, Hill-Harfe, Katherine, Maas, Saskia M., Frints, Suzanna Gerarda Maria, Alders, Marielle, Pignata, Laura, Franzese, Monica, Angelini, Claudia, Carli, Diana, Mussa, Alessandro, Gazzin, Andrea, Gabbarini, Fulvio, Acurzio, Basilia, Ferrero, Giovanni Battista, Bliek, Jet, Williams, Charles A., Riccio, Andrea, Cerrato, Flavia

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Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy von van Spaendonck-Zwarts, Karin Y, Posafalvi, Anna, van den Berg, Maarten P, Hilfiker-Kleiner, Denise, Bollen, Ilse A E, Sliwa, Karen, Alders, Mariëlle, Almomani, Rowida, van Langen, Irene M, van der Meer, Peter, Sinke, Richard J, van der Velden, Jolanda, Van Veldhuisen, Dirk J, van Tintelen, J Peter, Jongbloed, Jan D H

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Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics von Kleinendorst, Lotte, Abawi, Ozair, van der Kamp, Hetty J, Alders, Mariëlle, Meijers-Heijboer, Hanne E J, van Rossum, Elisabeth F C, van den Akker, Erica L T, van Haelst, Mieke M

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Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders von Sadikovic, Bekim, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, Schenkel, Laila, Stuart, Alan, McConkey, Haley, Henneman, Peter, Venema, Andrea, Schwartz, Charles E., Stevenson, Roger E., Skinner, Steven A., DuPont, Barbara R., Fletcher, Robin S., Balci, Tugce B., Siu, Victoria Mok, Granadillo, Jorge L., Masters, Jennefer, Kadour, Mike, Friez, Michael J., van Haelst, Mieke M., Mannens, Marcel M. A. M., Louie, Raymond J., Lee, Jennifer A., Tedder, Matthew L., Alders, Marielle

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Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review von Müller, Annelieke R, Boot, Erik, Notermans, Stijn B, Schuengel, Carlo, Henneman, Lidewij, Cornel, Martina C, van Haelst, Mieke M, Alders, Mariëlle, van Karnebeek, Clara D M, Bijl, Bas, Wijburg, Frits A, van Eeghen, Agnies M

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Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center von Kleinendorst, Lotte, Abawi, Ozair, van der Voorn, Bibian, Jongejan, Mieke H T M, Brandsma, Annelies E, Visser, Jenny A, van Rossum, Elisabeth F C, van der Zwaag, Bert, Alders, Mariëlle, Boon, Elles M J, van Haelst, Mieke M, van den Akker, Erica L T

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Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome von Kumps, Candy, D'haenens, Erika, Kerkhof, Jennifer, McConkey, Haley, Alders, Marielle, Sadikovic, Bekim, Vanakker, Olivier M

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Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature von Hoogenboom, Amarens, Falix, Farah A, van der Laan, Liselot, Kerkhof, Jennifer, Alders, Mariëlle, Sadikovic, Bekim, van Haelst, Mieke M

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Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation von Alders, Marielle, Koopmann, Tamara T., Christiaans, Imke, Postema, Pieter G., Beekman, Leander, Tanck, Michael W.T., Zeppenfeld, Katja, Loh, Peter, Koch, Karel T., Demolombe, Sophie, Mannens, Marcel M.A.M., Bezzina, Connie R., Wilde, Arthur A.M.

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Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome von Alders, Mariëlle, Al-Gazali, Lihadh, Cordeiro, Isabelle, Dallapiccola, Bruno, Garavelli, Livia, Tuysuz, Beyhan, Salehi, Faranak, Haagmans, Martin A., Mook, Olaf R., Majoie, Charles B., Mannens, Marcel M., Hennekam, Raoul C.

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Low rate of cardiac events in first-degree relatives of diagnosis-negative young sudden unexplained death syndrome victims during follow-up von van der Werf, Christian, MD, PhD, Stiekema, Lotte, BSc, Tan, Hanno L., MD, PhD, Hofman, Nynke, PhD, Alders, Marielle, PhD, van der Wal, Allard C., MD, PhD, van Langen, Irene M., MD, PhD, Wilde, Arthur A.M., MD, PhD, FHRS

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders von Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christèle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia von Vaz, Frédéric M, McDermott, John H, Alders, Mariëlle, Wortmann, Saskia B, Kölker, Stefan, Pras-Raves, Mia L, Vervaart, Martin A T, van Lenthe, Henk, Luyf, Angela C M, Elfrink, Hyung L, Metcalfe, Kay, Cuvertino, Sara, Clayton, Peter E, Yarwood, Rebecca, Lowe, Martin P, Lovell, Simon, Rogers, Richard C, van Kampen, Antoine H C, Ruiter, Jos P N, Wanders, Ronald J A, Ferdinandusse, Sacha, van Weeghel, Michel, Engelen, Marc, Banka, Siddharth

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