Guidelines for diagnostic next-generation sequencing von Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter

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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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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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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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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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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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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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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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"Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome von Rumping, Lynne, Hennekam, Raoul C M, Alders, Mariëlle, van Haelst, Mieke M

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Guidelines for diagnostic next-generation sequencing von Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter

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Mutations in TBL1X Are Associated With Central Hypothyroidism von Heinen, Charlotte A, Losekoot, Monique, Sun, Yu, Watson, Peter J, Fairall, Louise, Joustra, Sjoerd D, Zwaveling-Soonawala, Nitash, Oostdijk, Wilma, van den Akker, Erica L. T, Alders, Mariëlle, Santen, Gijs W. E, van Rijn, Rick R, Dreschler, Wouter A, Surovtseva, Olga V, Biermasz, Nienke R, Hennekam, Raoul C, Wit, Jan M, Schwabe, John W. R, Boelen, Anita, Fliers, Eric, van Trotsenburg, A. S. Paul

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Yield of Molecular and Clinical Testing for Arrhythmia Syndromes: Report of 15 Years’ Experience von Hofman, Nynke, Tan, Hanno L., Alders, Mariëlle, Kolder, Iris, de Haij, Simone, Mannens, Marcel M.A.M., Lombardi, Maria Paola, dit Deprez, Ronald H. Lekanne, van Langen, Irene, Wilde, Arthur A.M.

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Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome von D'Incal, Claudio Peter, Annear, Dale John, Elinck, Ellen, van der Smagt, Jasper J, Alders, Mariëlle, Dingemans, Alexander J M, Mateiu, Ligia, de Vries, Bert B A, Vanden Berghe, Wim, Kooy, R Frank

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DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder von Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niels, Levy, Michael A., Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Boris, de Villemeur, Thierry B., Volker-Touw, Catharina M.L., Verbeek, Nienke, van der Smagt, Jasper J., Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni B., Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

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How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques von Wortmann, Saskia B., Oud, Machteld M., Alders, Mariëlle, Coene, Karlien L. M., Crabben, Saskia N., Feichtinger, René G., Garanto, Alejandro, Hoischen, Alex, Langeveld, Mirjam, Lefeber, Dirk, Mayr, Johannes A., Ockeloen, Charlotte W., Prokisch, Holger, Rodenburg, Richard, Waterham, Hans R., Wevers, Ron A., Warrenburg, Bart P. C., Willemsen, Michel A. A. P., Wolf, Nicole I., Vissers, Lisenka E. L. M., Karnebeek, Clara D. M.

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Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature von van der Laan, Liselot, Rooney, Kathleen, Haghshenas, Sadegheh, Silva, Ananília, McConkey, Haley, Relator, Raissa, Levy, Michael A., Valenzuela, Irene, Trujillano, Laura, Lasa-Aranzasti, Amaia, Campos, Berta, Castells, Neus, Verberne, Eline A., Maas, Saskia, Alders, Mariëlle, Mannens, Marcel M. A. M., van Haelst, Mieke M., Sadikovic, Bekim, Henneman, Peter

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Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders von Sollis, Elliot, Deriziotis, Pelagia, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi, Hoffer, Mariëtte J.V., Ruivenkamp, Claudia A.L., Alders, Mariëlle, Okamoto, Nobuhiko, Bijlsma, Emilia K., Plomp, Astrid S., Fisher, Simon E.

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Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature von van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A.J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M.E. Suzanne, Lichty, Angie, Mannens, Marcel M.A.M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske

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Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis von van Dijk, Tessa, Ferdinandusse, Sacha, Ruiter, Jos P N, Alders, Mariëlle, Mathijssen, Inge B, Parboosingh, Jillian S, Innes, A Micheil, Meijers-Heijboer, Hanne, Poll-The, Bwee Tien, Bernier, Francois P, Wanders, Ronald J A, Lamont, Ryan E, Baas, Frank

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Severe early‐onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion von Vos, Niels, Menke, Leonie A., Mooij, Christiaan F., Akker, Erica L. T., Alders, Mariëlle, Haelst, Mieke M.

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