Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome by 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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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype by Balasubramanian, Meena, Dingemans, Alexander J M, Albaba, Shadi, Richardson, Ruth, Yates, Thabo M, Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H, Burke, Katherine B, Fry, Andrew E, Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S, Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K, Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M, Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske

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A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells by Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J M, Nadif Khadri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A, Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B A, Koolen, David A, Weksberg, Rosanna

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Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome by Dingemans, Alexander J M, Stremmelaar, Diante E, van der Donk, Roos, Vissers, Lisenka E L M, Koolen, David A, Rump, Patrick, Hehir-Kwa, Jayne Y, de Vries, Bert B A

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Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells by Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J M, Nadif Kasri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A, Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B A, Koolen, David A, Weksberg, Rosanna

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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders by Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, Baralle, Diana

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The Impact of Manuscript Learning vs. Video Learning on a Surgeon's Confidence in Performing a Difficult Procedure by Reck-Burneo, Carlos A, Dingemans, Alexander J M, Lane, Victoria A, Cooper, Jennifer, Levitt, Marc A, Wood, Richard J

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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism by Diets, Illja J., van der Donk, Roos, Baltrunaite, Kristina, Waanders, Esmé, Reijnders, Margot R.F., Dingemans, Alexander J.M., Pfundt, Rolph, Vulto-van Silfhout, Anneke T., Wiel, Laurens, Gilissen, Christian, Thevenon, Julien, Perrin, Laurence, Afenjar, Alexandra, Nava, Caroline, Keren, Boris, Bartz, Sarah, Peri, Bethany, Beunders, Gea, Verbeek, Nienke, van Gassen, Koen, Thiffault, Isabelle, Cadieux-Dion, Maxime, Huerta-Saenz, Lina, Wagner, Matias, Konstantopoulou, Vassiliki, Vodopiutz, Julia, Griese, Matthias, Boel, Annekatrien, Callewaert, Bert, Brunner, Han G., Kleefstra, Tjitske, Hoogerbrugge, Nicoline, de Vries, Bert B.A., Hwa, Vivian, Dauber, Andrew, Hehir-Kwa, Jayne Y., Kuiper, Roland P., Jongmans, Marjolijn C.J.

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Chronic central serous chorioretinopathy: long-term follow-up and vision-related quality of life by Breukink, Myrte B, Dingemans, Alexander Jm, den Hollander, Anneke I, Keunen, Jan Ee, MacLaren, Robert E, Fauser, Sascha, Querques, Giuseppe, Hoyng, Carel B, Downes, Susan M, Boon, Camiel Jf

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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON by Dingemans, Alexander J M, Truijen, Kim M G, Kim, Jung-Hyun, Alaçam, Zahide, Faivre, Laurence, Collins, Kathleen M, Gerkes, Erica H, van Haelst, Mieke, van de Laar, Ingrid M B H, Lindstrom, Kristin, Nizon, Mathilde, Pauling, James, Heropolitańska-Pliszka, Edyta, Plomp, Astrid S, Racine, Caroline, Sachdev, Rani, Sinnema, Margje, Skranes, Jon, Veenstra-Knol, Hermine E, Verberne, Eline A, Vulto-van Silfhout, Anneke T, Wilsterman, Marlon E F, Ahn, Eun-Young Erin, de Vries, Bert B A, Vissers, Lisenka E L M

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A structured bowel management program for patients with severe functional constipation can help decrease emergency department visits, hospital admissions, and healthcare costs by Reck-Burneo, Carlos A., Vilanova-Sanchez, Alejandra, Gasior, Alessandra C., Dingemans, Alexander J.M., Lane, Victoria A., Dyckes, Robert, Nash, Onnalisa, Weaver, Laura, Maloof, Tassiana, Wood, Richard J., Zobell, Sarah, Rollins, Michael D., Levitt, Marc A.

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The use of rotational fluoroscopy and 3-D reconstruction in the diagnosis and surgical planning for complex cloacal malformations by Reck-Burneo, Carlos A., Lane, Victoria, Bates, D. Gregory, Hogan, Mark, Thompson, Ben, Gasior, Alessandra, Weaver, Laura, Dingemans, Alexander J.M., Maloof, Tassiana, Hoover, Erin, Gagnon, Renae, Wood, Richard, Levitt, Marc

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Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information by Dingemans, Alexander J. M., Stremmelaar, Diante E., Vissers, Lisenka E. L. M., Jansen, Sandra, Nabais Sá, Maria J., Remortele, Angela, Jonis, Noraly, Truijen, Kim, van de Ven, Sam, Ewals, Jeroen, Verbruggen, Michel, Koolen, David A., Brunner, Han G., Eichler, Evan E., Gecz, Jozef, Vries, Bert B. A.

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Health literacy and health-related quality of life in patients with anorectal malformations: A comparison between a charity hospital in Honduras and a tertiary care center in the U... by Dingemans, Alexander J.M., Krois, Wilfried, Rios, Juan Craniotis, Wood, Richard J., Levitt, Marc A., Reck-Burneo, Carlos A.

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Behavior and cognitive functioning in Witteveen–Kolk syndrome by Dongen, Linde C. M., Wingbermühle, Ellen, Dingemans, Alexander J. M., Bos‐Roubos, Anja G., Vermeulen, Karlijn, Pop‐Purceleanu, Monica, Kleefstra, Tjitske, Egger, Jos I. M.

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The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 by Dingemans, Alexander J. M., Truijen, Kim M. G., van de Ven, Sam, Bernier, Raphael, Bongers, Ernie M. H. F., Bouman, Arjan, de Graaff – Herder, Laura, Eichler, Evan E., Gerkes, Erica H., De Geus, Christa M., van Hagen, Johanna M., Jansen, Philip R., Kerkhof, Jennifer, Kievit, Anneke J. A., Kleefstra, Tjitske, Maas, Saskia M., de Man, Stella A., McConkey, Haley, Patterson, Wesley G., Dobson, Amy T., Prijoles, Eloise J., Sadikovic, Bekim, Relator, Raissa, Stevenson, Roger E., Stumpel, Connie T. R. M., Heijligers, Malou, Stuurman, Kyra E., Löhner, Katharina, Zeidler, Shimriet, Lee, Jennifer A., Lindy, Amanda, Zou, Fanggeng, Tedder, Matthew L., Vissers, Lisenka E. L. M., de Vries, Bert B. A.

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Does clinic visit education within a multidisciplinary center improve health literacy scores in caregivers of children with complex colorectal conditions? by Dingemans, Alexander J.M., Reck, Carlos A., Vilanova-Sanchez, Alejandra, Gonzalez, Dani O., Gasior, Alessandra C., Weaver, Laura J., Gagnon, Renae, Hoover, Erin, Sraha, Gabriel, Levitt, Marc A., Wood, Richard J.

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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria by van der Sluijs, Pleuntje J, Alders, Mariëlle, Dingemans, Alexander J M, Parbhoo, Kareesma, van Bon, Bregje W, Dempsey, Jennifer C, Doherty, Dan, den Dunnen, Johan T, Gerkes, Erica H, Milller, Ilana M, Moortgat, Stephanie, Regier, Debra S, Ruivenkamp, Claudia A L, Schmalz, Betsy, Smol, Thomas, Stuurman, Kyra E, Vincent-Delorme, Catherine, de Vries, Bert B A, Sadikovic, Bekim, Hickey, Scott E, Rosenfeld, Jill A, Maystadt, Isabelle, Santen, Gijs W E

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature by Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J.M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B.A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T.R.M., Stevens, Servi J.C., Vermeulen, Jeroen R., van Harssel, Jeske V.T., Bosch, Danielle G.M., van Gassen, Koen L.I., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J.M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna

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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction by den Hoed, Joery, de Boer, Elke, Voisin, Norine, Dingemans, Alexander J.M., Guex, Nicolas, Wiel, Laurens, Nellaker, Christoffer, Amudhavalli, Shivarajan M., Banka, Siddharth, Bena, Frederique S., Ben-Zeev, Bruria, Bonagura, Vincent R., Bruel, Ange-Line, Brunet, Theresa, Brunner, Han G., Chew, Hui B., Chrast, Jacqueline, Cimbalistienė, Loreta, Coon, Hilary, Délot, Emmanuèlle C., Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Donnai, Dian, Dyment, David A., Elpeleg, Orly, Faivre, Laurence, Gilissen, Christian, Granger, Leslie, Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin Hamzavi, Hanebeck, Jennifer, Hehir-Kwa, Jayne Y., Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly L., Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja A., Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad A., Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip H., Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy B., Parker, Michael, Petersen, Andrea K., Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill A., Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Snijders Blok, Lot, Spillmann, Rebecca C., Stegmann, Alexander P.A., Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-dos-Santos, Juliana H., Schrier Vergano, Samantha A., Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia, Zuccarelli, Britton, Kini, Usha, Newbury, Dianne F., Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon E., Vissers, Lisenka E.L.M.

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