Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability von Zhao, Jin J., Halvardson, Jonatan, Zander, Cecilia S., Zaghlool, Ammar, Georgii‐Hemming, Patrik, Månsson, Else, Brandberg, Göran, Sävmarker, Helena E., Frykholm, Carina, Kuchinskaya, Ekaterina, Thuresson, Ann‐Charlotte, Feuk, Lars

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Autism spectrum disorders in the Stockholm Youth Cohort: design, prevalence and validity von Idring, Selma, Rai, Dheeraj, Dal, Henrik, Dalman, Christina, Sturm, Harald, Zander, Eric, Lee, Brian K, Serlachius, Eva, Magnusson, Cecilia

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Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability von Thuresson, Ann‐Charlotte, Soussi Zander, Cecilia, Zhao, Jin J., Halvardson, Jonatan, Maqbool, Khurram, Månsson, Else, Stenninger, Eric, Holmlund, Ulrika, Öhrner, Ylva, Feuk, Lars

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Novel PNKP mutations associated with reduced DNA single‐strand break repair and severe microcephaly, seizures, and developmental delay von Thuresson, Ann‐Charlotte, Brazina, Jan, Akram, Talia, Albrecht, Julia, Dahl, Niklas, Soussi Zander, Cecilia, Caldecott, Keith W.

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Beckwith-Wiedemann Syndrome Revisited von Zander, Cecilia Soussi

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Changes in mortality and causes of death in the Swedish Down syndrome population von Englund, Annika, Jonsson, Björn, Zander, Cecilia Soussi, Gustafsson, Jan, Annerén, Göran

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Mutations in HECW2 are associated with intellectual disability and epilepsy von Halvardson, Jonatan, Zhao, Jin J, Zaghlool, Ammar, Wentzel, Christian, Georgii-Hemming, Patrik, Månsson, Else, Ederth Sävmarker, Helena, Brandberg, Göran, Soussi Zander, Cecilia, Thuresson, Ann-Charlotte, Feuk, Lars

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Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures von Thierry, Gaelle, Bénéteau, Claire, Pichon, Olivier, Flori, Elisabeth, Isidor, Bertrand, Popelard, Françoise, Delrue, Marie-Ange, Duboscq-Bidot, Laetitia, Thuresson, Ann-Charlotte, van Bon, Bregje W.M., Cailley, Dorothée, Rooryck, Caroline, Paubel, Agathe, Metay, Corinne, Dusser, Anne, Pasquier, Laurent, Béri, Mylène, Bonnet, Céline, Jaillard, Sylvie, Dubourg, Christèle, Tou, Bassim, Quéré, Marie-Pierre, Soussi-Zander, Cecilia, Toutain, Annick, Lacombe, Didier, Arveiler, Benoit, de Vries, Bert B.A., Jonveaux, Philippe, David, Albert, Le Caignec, Cédric

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Proximal Deletion 12q with a New Insight to Growth Retardation von Sobol, Maria, Thuresson, Ann-Charlotte, Palmberg, Nathalie, Soussi Zander, Cecilia

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Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development von Thuresson, A‐C., Van Buggenhout, G., Sheth, F., Kamate, M., Andrieux, J., Clayton Smith, J., Soussi Zander, C.

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Breast-cancer stromal cells with TP53 mutations von Roukos, Dimitrios H

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Abstract P2-02-09: Breast cancer subtype distribution and circulating tumor DNA in response to neoadjuvant chemotherapy: Experiences from a preoperative cohort within SCAN-B von Loman, N, Chen, Y, Aaltonen, K, Brueffer, C, George, AM, Zander, L, Vallon-Christersson, J, Häkkinen, J, Förnvik, D, Rigo, R, Ehinger, A, Malmberg, M, Larsson, C, Hegardt, C, Borg, Å, Rydén, L, Saal, LH

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Breast-cancer stromal cells with TP53 mutations von Zander, Cecilia Soussi, Soussi, Thierry

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Whole-gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development von Thuresson, Ann-Charlotte, Van Buggenhout, Griet, Sheth, Frenny, Kamate, Mahesh, Andrieux, Joris, Clayton Smith, Jill, Soussi Zander, Cecilia

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Breast-cancer stromal cells with TP53 mutations von Zalcman, Gérard, Bergot, Emmanuel, Hainaut, Pierre

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Processes of International Collaboration in Management Research: A Reflexive, Autoethnographic Approach von Jonsen, Karsten, Butler, Christina L., Mäkelä, Kristiina, Piekkari, Rebecca, Drogendijk, Rian, Lauring, Jakob, Lervik, Jon E., Pahlberg, Cecilia, Vodosek, Markus, Zander, Lena

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Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content von Takahashi, Junko, Fujigasaki, Hiroto, Zander, Cecilia, El Hachimi, Khalid H., Stevanin, Giovanni, Dürr, Alexandra, Lebre, Anne‐Sophie, Yvert, Gaël, Trottier, Yvon, Thé, Hugues de, Hauw, Jean‐Jacques, Duyckaerts, Charles, Brice, Alexis

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Breast-Cancer Stromal Cells with TP53 Mutations von Campbell, Ian G, Qiu, Wen, Polyak, Kornelia, Haviv, Izhak

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SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family von Fujigasaki, Hiroto, Verma, Ishwar C., Camuzat, Agnès, Margolis, Russell L., Zander, Cecilia, Lebre, Anne-Sophie, Jamot, Laure, Saxena, Renu, Anand, Ish, Holmes, Susan E., Ross, Christopher A., Dürr, Alexandra, Brice, Alexis

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Detection of expanded CAG repeats in Bipolar Affective Disorder using the repeat expansion detection (RED) method von Lindblad, Kerstin, Nylander, Per-Olof, De bruyn, An, Sourey, Daniel, Zander, Cecilia, Engström, Christer, Holmgren, Gösta, Hudson, Tom, Chotai, Jayanti, Mendlewicz, Julien, Van Broeckhoven, Christine, Schalling, Martin, Adolfsson, Rolf

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