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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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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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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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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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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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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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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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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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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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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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 de Vries, Bert B A, 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

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Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36 von Zaveri, Hitisha P, Beck, Tyler F, Hernández-García, Andrés, Shelly, Katharine E, Montgomery, Tara, van Haeringen, Arie, Anderlid, Britt-Marie, Patel, Chirag, Goel, Himanshu, Houge, Gunnar, Morrow, Bernice E, Cheung, Sau Wai, Lalani, Seema R, Scott, Daryl A

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The Roots of Autism and ADHD Twin Study in Sweden (RATSS) von Bölte, Sven, Willfors, Charlotte, Berggren, Steve, Norberg, Joakim, Poltrago, Lina, Mevel, Katell, Coco, Christina, Fransson, Peter, Borg, Jacqueline, Sitnikov, Rouslan, Toro, Roberto, Tammimies, Kristiina, Anderlid, Britt-Marie, Nordgren, Ann, Falk, Anna, Meyer, Urs, Kere, Juha, Landén, Mikael, Dalman, Christina, Ronald, Angelica, Anckarsäter, Henrik, Lichtenstein, Paul

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Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis von Mastropasqua, Francesca, Oksanen, Marika, Soldini, Cristina, Alatar, Shemim, Arora, Abishek, Ballarino, Roberto, Molinari, Maya, Agostini, Federico, Poulet, Axel, Watts, Michelle, Rabkina, Ielyzaveta, Becker, Martin, Li, Danyang, Anderlid, Britt-Marie, Isaksson, Johan, Lundin Remnelius, Karl, Moslem, Mohsen, Jacob, Yannick, Falk, Anna, Crosetto, Nicola, Bienko, Magda, Santini, Emanuela, Borgkvist, Anders, Bölte, Sven, Tammimies, Kristiina

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