Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations by Rech, Megan E., McCarthy, John M., Chen, Chun‐An, Edmond, Jane C., Shah, Veeral S., Bosch, Daniëlle G. M., Berry, Gerard T., Williams, Linford, Madan‐Khetarpal, Suneeta, Niyazov, Dmitriy, Shaw‐Smith, Charles, Kovar, Erin M., Lupo, Philip J., Schaaf, Christian P.

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TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function by Ba, Wei, Yan, Yan, Reijnders, Margot R F, Schuurs-Hoeijmakers, Janneke H M, Feenstra, Ilse, Bongers, Ernie M H F, Bosch, Daniëlle G M, De Leeuw, Nicole, Pfundt, Rolph, Gilissen, Christian, De Vries, Petra F, Veltman, Joris A, Hoischen, Alexander, Mefford, Heather C, Eichler, Evan E, Vissers, Lisenka E L M, Nadif Kasri, Nael, De Vries, Bert B A

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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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An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS by Tracewska-Siemiątkowska, Anna, Haer-Wigman, Lonneke, Bosch, Danielle G M, Nickerson, Deborah, Bamshad, Michael J, van de Vorst, Maartje, Rendtorff, Nanna Dahl, Möller, Claes, Kjellström, Ulrika, Andréasson, Sten, Cremers, Frans P M, Tranebjærg, Lisbeth

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Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes by Bosch, Daniëlle G M, Boonstra, F Nienke, Willemsen, Michèl A A P, Cremers, Frans P M, de Vries, Bert B A

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The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes by Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K. M., Rooney, Kathleen, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M., Vissers, Lisenka E. L. M., de Vries, Bert B. A., Pfundt, Rolph, Elting, Mariet W., van Hagen, Johanna M., Verbeek, Nienke E., Jongmans, Marjolijn C. J., Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G. M., Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E., Ounap, Katrin, Hoffer, Mariëtte J. V., Nezarati, Marjan M., van den Boogaard, Marie-José H., Tedder, Matthew L., Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B., Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J., Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A. M., Stuurman, Kyra E., Mannens, Marcel M. A. M., Alders, Mariëlle, Henneman, Peter, White, Susan M., Sadikovic, Bekim, van Haelst, Mieke M.

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The Multidisciplinary Guidelines for Diagnosis and Referral in Cerebral Visual Impairment by Boonstra, Frouke N., Bosch, Daniëlle G. M., Geldof, Christiaan J. A., Stellingwerf, Catharina, Porro, Giorgio

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De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions by Fregeau, Brieana, Kim, Bum Jun, Hernández-García, Andrés, Jordan, Valerie K., Cho, Megan T., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rosenfeld, Jill A., Bhoj, Elizabeth, Zackai, Elaine H., Sacharow, Stephanie, Barañano, Kristin, Bosch, Daniëlle G.M., de Vries, Bert B.A., Lindstrom, Kristin, Schroeder, Audrey, James, Philip, Kulch, Peggy, Lalani, Seema R., van Haelst, Mieke M., van Gassen, Koen L.I., van Binsbergen, Ellen, Barkovich, A. James, Scott, Daryl A., Sherr, Elliott H.

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NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability by Bosch, Daniëlle G.M., Boonstra, F. Nienke, Gonzaga-Jauregui, Claudia, Xu, Mafei, de Ligt, Joep, Jhangiani, Shalini, Wiszniewski, Wojciech, Muzny, Donna M., Yntema, Helger G., Pfundt, Rolph, Vissers, Lisenka E.L.M., Spruijt, Liesbeth, Blokland, Ellen A.W., Chen, Chun-An, Lewis, Richard A., Tsai, Sophia Y., Gibbs, Richard A., Tsai, Ming-Jer, Lupski, James R., Zoghbi, Huda Y., Cremers, Frans P.M., de Vries, Bert B.A., Schaaf, Christian P.

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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus by Galosi, Serena, Edani, Ban H, Martinelli, Simone, Hansikova, Hana, Eklund, Erik A, Caputi, Caterina, Masuelli, Laura, Corsten-Janssen, Nicole, Srour, Myriam, Oegema, Renske, Bosch, Daniëlle G M, Ellis, Colin A, Amlie-Wolf, Louise, Accogli, Andrea, Atallah, Isis, Averdunk, Luisa, Barañano, Kristin W, Bei, Roberto, Bagnasco, Irene, Brusco, Alfredo, Demarest, Scott, Alaix, Anne-Sophie, Di Bonaventura, Carlo, Distelmaier, Felix, Elmslie, Frances, Gan-Or, Ziv, Good, Jean-Marc, Gripp, Karen, Kamsteeg, Erik-Jan, Macnamara, Ellen, Marcelis, Carlo, Mercier, Noëlle, Peeden, Joseph, Pizzi, Simone, Pannone, Luca, Shinawi, Marwan, Toro, Camilo, Verbeek, Nienke E, Venkateswaran, Sunita, Wheeler, Patricia G, Zdrazilova, Lucie, Zhang, Rong, Zorzi, Giovanna, Guerrini, Renzo, Sessa, William C, Lefeber, Dirk J, Tartaglia, Marco, Hamdan, Fadi F, Grabińska, Kariona A, Leuzzi, Vincenzo

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Novel genetic causes for cerebral visual impairment by Bosch, Daniëlle G M, Boonstra, F Nienke, de Leeuw, Nicole, Pfundt, Rolph, Nillesen, Willy M, de Ligt, Joep, Gilissen, Christian, Jhangiani, Shalini, Lupski, James R, Cremers, Frans P M, de Vries, Bert B A

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Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy by Liu, Yangfan P, Bosch, Daniëlle G M, Siemiatkowska, Anna M, Rendtorff, Nanna Dahl, Boonstra, F Nienke, Möller, Claes, Tranebjærg, Lisbeth, Katsanis, Nicholas, Cremers, Frans P M

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Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS) by Hendricks, Linda A J, Verbeek, Katja C J, Schuurs-Hoeijmakers, Janneke H M, Mensenkamp, Arjen R, Brems, Hilde, de Putter, Robin, Anastasiadou, Violetta C, Villy, Marie-Charlotte, Jahn, Arne, Steinke-Lange, Verena, Baldassarri, Margherita, Irmejs, Arvids, de Jong, Mirjam M, Links, Thera P, Leter, Edward M, Bosch, Daniëlle G M, Høberg-Vetti, Hildegunn, Tveit Haavind, Marianne, Jørgensen, Kjersti, Mæhle, Lovise, Blatnik, Ana, Brunet, Joan, Darder, Esther, Tham, Emma, Hoogerbrugge, Nicoline, Vos, Janet R

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Age-related decreased inhibitory vs. excitatory gene expression in the adult autistic brain by van de Lagemaat, Louie N, Nijhof, Bonnie, Bosch, Daniëlle G M, Kohansal-Nodehi, Mahdokht, Keerthikumar, Shivakumar, Heimel, J Alexander

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Chromosomal aberrations in cerebral visual impairment by Bosch, Daniëlle G.M, Boonstra, F. Nienke, Reijnders, Margot R.F, Pfundt, Rolph, Cremers, Frans P.M, de Vries, Bert B.A

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Cerebral visual impairment and intellectual disability caused by PGAP1 variants by Bosch, Daniëlle G M, Boonstra, F Nienke, Kinoshita, Taroh, Jhangiani, Shalini, de Ligt, Joep, Cremers, Frans P M, Lupski, James R, Murakami, Yoshiko, de Vries, Bert B A

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A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency by Jansen, Sandra, Hoischen, Alexander, Coe, Bradley P, Carvill, Gemma L, Van Esch, Hilde, Bosch, Daniëlle G M, Andersen, Ulla A, Baker, Carl, Bauters, Marijke, Bernier, Raphael A, van Bon, Bregje W, Claahsen-van der Grinten, Hedi L, Gecz, Jozef, Gilissen, Christian, Grillo, Lucia, Hackett, Anna, Kleefstra, Tjitske, Koolen, David, Kvarnung, Malin, Larsen, Martin J, Marcelis, Carlo, McKenzie, Fiona, Monin, Marie-Lorraine, Nava, Caroline, Schuurs-Hoeijmakers, Janneke H, Pfundt, Rolph, Steehouwer, Marloes, Stevens, Servi J C, Stumpel, Connie T, Vansenne, Fleur, Vinci, Mirella, van de Vorst, Maartje, Vries, Petra de, Witherspoon, Kali, Veltman, Joris A, Brunner, Han G, Mefford, Heather C, Romano, Corrado, Vissers, Lisenka E L M, Eichler, Evan E, de Vries, Bert B A

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De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila by Lugtenberg, Dorien, Reijnders, Margot R F, Fenckova, Michaela, Bijlsma, Emilia K, Bernier, Raphael, van Bon, Bregje W M, Smeets, Eric, Vulto-van Silfhout, Anneke T, Bosch, Danielle, Eichler, Evan E, Mefford, Heather C, Carvill, Gemma L, Bongers, Ernie M H F, Schuurs-Hoeijmakers, Janneke Hm, Ruivenkamp, Claudia A, Santen, Gijs W E, van den Maagdenberg, Arn M J M, Peeters-Scholte, Cacha M P C D, Kuenen, Sabine, Verstreken, Patrik, Pfundt, Rolph, Yntema, Helger G, de Vries, Petra F, Veltman, Joris A, Hoischen, Alexander, Gilissen, Christian, de Vries, Bert B A, Schenck, Annette, Kleefstra, Tjitske, Vissers, Lisenka E L M

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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome by Kim, Jung-Hyun, Shinde, Deepali N., Reijnders, Margot R.F., Hauser, Natalie S., Belmonte, Rebecca L., Wilson, Gregory R., Bosch, Daniëlle G.M., Bubulya, Paula A., Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K., Park, Eun Young, Veltman, Joris A., Sinnema, Margje, Stumpel, Connie T.R.M., Draaisma, Jos M., Nicolai, Joost, Yntema, Helger G., Lindstrom, Kristin, de Vries, Bert B.A., Jewett, Tamison, Santoro, Stephanie L., Vogt, Julie, Bachman, Kristine K., Seeley, Andrea H., Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M., Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A., Behunova, Jana, Rehder, Helga, Gordon, Christopher T., Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T., McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander P.A., Stevens, Servi J.C., Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G., Brunner, Han G., Mancini, Grazia M., Myers, Richard M., Owen, Laurie B., Lim, Ssang-Taek, Stachura, David L., Vissers, Lisenka E.L.M., Ahn, Eun-Young Erin

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder by Rots, Dmitrijs, Jakub, Taryn E., Keung, Crystal, Jackson, Adam, Banka, Siddharth, Pfundt, Rolph, de Vries, Bert B.A., van Jaarsveld, Richard H., Hopman, Saskia M.J., Valenzuela, Irene, Hempel, Maja, Bierhals, Tatjana, Kortüm, Fanny, Lecoquierre, Francois, Goldenberg, Alice, Hertz, Jens Michael, Kibæk, Maria, Prijoles, Eloise J., Stevenson, Roger E., Everman, David B., Patterson, Wesley G., Meng, Linyan, Gijavanekar, Charul, De Dios, Karl, Lakhani, Shenela, Levy, Tess, Wieczorek, Dagmar, Benke, Paul J., Lopez Garcia, María Soledad, Perrier, Renee, Sousa, Sergio B., Almeida, Pedro M., Isidor, Bertrand, Deb, Wallid, Schmanski, Andrew A., Abdul-Rahman, Omar, Philippe, Christophe, Bruel, Ange-Line, Faivre, Laurence, Thauvin, Christel, Smits, Jeroen J., Garavelli, Livia, Caraffi, Stefano G., Peluso, Francesca, Royer, Erin, Leeuwen, Lisette, Stegmann, Alexander P.A., Stumpel, Constance T.R.M., Tiller, George E., Bosch, Daniëlle G.M., Potgieter, Stephanus T., Joss, Shelagh, Splitt, Miranda, Holden, Simon, Prapa, Matina, Foulds, Nicola, Waltes, Regina, Chiocchetti, Andreas G., Freitag, Christine M., De Rubeis, Silvia, Buxbaum, Joseph, Gelb, Bruce D., Branko, Aleksic, Kushima, Itaru, Howe, Jennifer, Scherer, Stephen W., Arado, Alessia, Baldo, Chiara, Patat, Olivier, Bénédicte, Demeer, Lopergolo, Diego, Santorelli, Filippo M., Dufke, Andreas, Falb, Ruth J., Rieß, Angelika, Krieg, Peter, Spranger, Stephanie, Iascone, Maria, Josephi-Taylor, Sarah, Roscioli, Tony, Buckley, Michael F., Liebelt, Jan, Dagli, Aditi I., Aten, Emmelien, Hurst, Anna C.E., Suri, Mohnish, Aliu, Ermal, Naik, Sunil, Coursimault, Juliette, Nicolas, Gaël, Küpper, Hanna, Ibrahim, Veyan, Top, Deniz, Di Cara, Francesca, Louie, Raymond J., Stolerman, Elliot, Brunner, Han G., Vissers, Lisenka E.L.M., Kramer, Jamie M., Kleefstra, Tjitske

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