Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study von Stödberg, Tommy, Tomson, Torbjörn, Barbaro, Michela, Stranneheim, Henrik, Anderlid, Britt‐Marie, Carlsson, Sofia, Åmark, Per, Wedell, Anna

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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP von Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Cappuyns, Elisa, van der Werf, Ilse M., Mancini, Grazia M., Tzschach, Andreas, Bernier, Raphael, Gozes, Illana, Eichler, Evan E., Romano, Corrado, Lindstrand, Anna, Nordgren, Ann, Bakshi, Madhura, Wilson, Meredith, Berman, Yemina, Dickson, Rebecca, Fransen, Erik, Helsmoortel, Céline, Van den Ende, Jenneke, Van der Aa, Nathalie, van de Wijdeven, Marina J., Rosenblum, Jessica, Monteiro, Fabíola, Kok, Fernando, Quercia, Nada, Bowdin, Sarah, Dyment, David, Chitayat, David, Alkhunaizi, Ebba, Boonen, Susanne E., Keren, Boris, Jacquette, Aurelia, Faivre, Laurence, Bezieau, Stephane, Isidor, Bertrand, Rieß, Angelika, Moog, Ute, Lynch, Sally Ann, McVeigh, Terri, Elpeleg, Orly, Smeland, Marie Falkenberg, Fannemel, Madeleine, van Haeringen, Arie, Maas, Saskia M., Veenstra-Knol, H.E., Schouten, Meyke, Willemsen, Marjolein H., Marcelis, Carlo L., Ockeloen, Charlotte, van der Burgt, Ineke, Feenstra, Ilse, van der Smagt, Jasper, Jezela-Stanek, Aleksandra, Krajewska-Walasek, Malgorzata, González-Lamuño, Domingo, Anderlid, Britt-Marie, Malmgren, Helena, Nordenskjöld, Magnus, Hurst, Jane, Metcalfe, Kay, Mansour, Sahar, Lachlan, Katherine, Clayton-Smith, Jill, Hendon, Laura G., Abdulrahman, Omar A., Morrow, Eric, McMillan, Clare, Gerdts, Jennifer, Peeden, Joseph, Schrier Vergano, Samantha A., Valentino, Caitlin, Chung, Wendy K., Ozmore, Jillian R., Bedrosian-Sermone, Sandra, Treat, Kayla, Hughes, Susan Starling, Safina, Nicole, Le Pichon, Jean-Baptiste, McGuire, Marianne, Infante, Elena, Madan-Khetarpal, Suneeta, Desai, Sonal, Benke, Paul, Krokosky, Alyson, Cristian, Ingrid, Baker, Laura, Gripp, Karen, Stessman, Holly A., Eichenberger, Jacob, Jayakar, Parul, Manning, Melanie Ann, Slattery, Leah, Kvarnung, Malin, Kleefstra, Tjitske, de Vries, Bert B.A., Küry, Sébastien, Rosenfeld, Jill A., Meuwissen, Marije E., Vandeweyer, Geert, Kooy, R. Frank

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Whole‐Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in... von Nilsson, Daniel, Pettersson, Maria, Gustavsson, Peter, Förster, Alisa, Hofmeister, Wolfgang, Wincent, Josephine, Zachariadis, Vasilios, Anderlid, Britt‐Marie, Nordgren, Ann, Mäkitie, Outi, Wirta, Valtteri, Käller, Max, Vezzi, Francesco, Lupski, James R, Nordenskjöld, Magnus, Syk Lundberg, Elisabeth, Carvalho, Claudia M. B., Lindstrand, Anna

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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm von Lindsay, Mark E, Schepers, Dorien, Bolar, Nikhita Ajit, Doyle, Jefferson J, Gallo, Elena, Fert-Bober, Justyna, Kempers, Marlies J E, Fishman, Elliot K, Chen, Yichun, Myers, Loretha, Bjeda, Djahita, Oswald, Gretchen, Elias, Abdallah F, Levy, Howard P, Anderlid, Britt-Marie, Yang, Margaret H, Bongers, Ernie M H F, Timmermans, Janneke, Braverman, Alan C, Canham, Natalie, Mortier, Geert R, Brunner, Han G, Byers, Peter H, Van Eyk, Jennifer, Van Laer, Lut, Dietz, Harry C, Loeys, Bart L

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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... von Lindstrand, Anna, Eisfeldt, Jesper, Pettersson, Maria, Carvalho, Claudia M B, Kvarnung, Malin, Grigelioniene, Giedre, Anderlid, Britt-Marie, Bjerin, Olof, Gustavsson, Peter, Hammarsjö, Anna, Georgii-Hemming, Patrik, Iwarsson, Erik, Johansson-Soller, Maria, Lagerstedt-Robinson, Kristina, Lieden, Agne, Magnusson, Måns, Martin, Marcel, Malmgren, Helena, Nordenskjöld, Magnus, Norling, Ameli, Sahlin, Ellika, Stranneheim, Henrik, Tham, Emma, Wincent, Josephine, Ygberg, Sofia, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lundin, Johanna, Nilsson, Daniel

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Further evidence for specific IFIH1 mutation as a cause of Singleton–Merten syndrome with phenotypic heterogeneity von Pettersson, Maria, Bergendal, Birgitta, Norderyd, Johanna, Nilsson, Daniel, Anderlid, Britt‐Marie, Nordgren, Ann, Lindstrand, Anna

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Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population‐based study von Stödberg, Tommy, Tomson, Torbjörn, Anderlid, Britt‐Marie, Andersson, Tomas, Henry, Olivia, Åmark, Per, Wedell, Anna

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HLA Polymorphism in Regressive and Non‐Regressive Autism: A Preliminary Study von Tamouza, Ryad, Fernell, Elisabeth, Eriksson, Mats Anders, Anderlid, Britt‐Marie, Manier, Céline, Mariaselvam, Christina Mary, Boukouaci, Wahid, Leboyer, Marion, Gillberg, Christopher

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Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects von Kolbjer, Sintia, Martin, Daniel A., Pettersson, Maria, Dahlin, Maria, Anderlid, Britt-Marie

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Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability von Kvarnung, Malin, Taylan, Fulya, Nilsson, Daniel, Anderlid, Britt‐Marie, Malmgren, Helena, Lagerstedt‐Robinson, Kristina, Holmberg, Eva, Burstedt, Magnus, Nordenskjöld, Magnus, Nordgren, Ann, Lundberg, Elisabeth S.

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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations von Reijnders, Margot R.F., Zachariadis, Vasilios, Latour, Brooke, Jolly, Lachlan, Mancini, Grazia M., Pfundt, Rolph, Wu, Ka Man, van Ravenswaaij-Arts, Conny M.A., Veenstra-Knol, Hermine E., Anderlid, Britt-Marie M., Wood, Stephen A., Cheung, Sau Wai, Barnicoat, Angela, Probst, Frank, Magoulas, Pilar, Brooks, Alice S., Malmgren, Helena, Harila-Saari, Arja, Marcelis, Carlo M., Vreeburg, Maaike, Hobson, Emma, Sutton, V. Reid, Stark, Zornitza, Vogt, Julie, Cooper, Nicola, Lim, Jiin Ying, Price, Sue, Lai, Angeline Hwei Meeng, Domingo, Deepti, Reversade, Bruno, Gecz, Jozef, Gilissen, Christian, Brunner, Han G., Kini, Usha, Roepman, Ronald, Nordgren, Ann, Kleefstra, Tjitske

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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature von Gazdagh, Gabriella, Hunt, David, Gonzalez, Anna Maria Cueto, Rodriguez, Monserrat Pons, Chaudhry, Ayeshah, Madruga, Marcos, Vansenne, Fleur, Shears, Deborah, Curie, Aurore, Stattin, Eva‐Lena, Anderlid, Britt‐Marie, Trajkova, Slavica, Angelovska, Elena Sukarova, McWilliam, Catherine, Wyatt, Philip R., O'Driscoll, Mary, Atton, Giles, Bergman, Anke K., Zacher, Pia, Mewasingh, Leena D., López, Antonio Gonzalez‐Meneses, Alonso‐Luengo, Olga, Wai, Htoo A., Rohde, Ottilie, Boiroux, Pauline, Debant, Anne, Schmidt, Susanne, Baralle, Diana

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Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders von Myers, Lynnea, Anderlid, Britt‐Marie, Nordgren, Ann, Lundin, Karl, Kuja‐Halkola, Ralf, Tammimies, Kristiina, Bölte, Sven

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Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia von Dahl, Sara, Pettersson, Maria, Eisfeldt, Jesper, Schröder, Anna Katharina, Wickström, Ronny, Teär Fahnehjelm, Kristina, Anderlid, Britt-Marie, Lindstrand, Anna

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Benign paroxysmal torticollis of infancy does not lead to neurological sequelae von Danielsson, Annika, Anderlid, Britt‐Marie, Stödberg, Tommy, Lagerstedt‐Robinson, Kristina, Klackenberg Arrhenius, Eva, Tedroff, Kristina

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DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome von Verberne, Eline A., van der Laan, Liselot, Haghshenas, Sadegheh, Rooney, Kathleen, Levy, Michael A., Alders, Mariëlle, Maas, Saskia M., Jansen, Sandra, Lieden, Agne, Anderlid, Britt-Marie, Rafael-Croes, Louise, Campeau, Philippe M., Chaudhry, Ayeshah, Koolen, David A., Pfundt, Rolph, Hurst, Anna C. E., Tran-Mau-Them, Frederic, Bruel, Ange-Line, Lambert, Laetitia, Isidor, Bertrand, Mannens, Marcel M. A. M., Sadikovic, Bekim, Henneman, Peter, van Haelst, Mieke M.

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Presynaptic dysfunction in CASK-related neurodevelopmental disorders von Becker, Martin, Mastropasqua, Francesca, Reising, Jan Philipp, Maier, Simon, Ho, Mai-Lan, Rabkina, Ielyzaveta, Li, Danyang, Neufeld, Janina, Ballenberger, Lea, Myers, Lynnea, Moritz, Viveka, Kele, Malin, Wincent, Josephine, Willfors, Charlotte, Sitnikov, Rouslan, Herlenius, Eric, Anderlid, Britt-Marie, Falk, Anna, Bölte, Sven, Tammimies, Kristiina

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism von Koolen, David A, Vissers, Lisenka E L M, Pfundt, Rolph, de Leeuw, Nicole, Knight, Samantha JL, Regan, Regina, Kooy, R Frank, Reyniers, Edwin, Romano, Corrado, Fichera, Marco, Schinzel, Albert, Baumer, Alessandra, Anderlid, Britt-Marie, Schoumans, Jacqueline, Knoers, Nine V, van Kessel, Ad Geurts, Sistermans, Erik A, Veltman, Joris A, Brunner, Han G, de Vries, Bert B A

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Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22 von Koza, Sylvia A., Tabet, Anne C., Bonaglia, Maria C., Andres, Stephanie, Anderlid, Britt-Marie, Aten, Emmelien, Stiefsohn, Dominique, Evans, D. Gareth, van Ravenswaaij-Arts, Conny M.A., Kant, Sarina G.

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Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome von Nag, Heidi Elisabeth, Nordgren, Ann, Anderlid, Britt-Marie, Nærland, Terje

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