Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman, Holly A F, Xiong, Bo, Coe, Bradley P, Wang, Tianyun, Hoekzema, Kendra, Fenckova, Michaela, Kvarnung, Malin, Gerdts, Jennifer, Trinh, Sandy, Cosemans, Nele, Vives, Laura, Lin, Janice, Turner, Tychele N, Santen, Gijs, Ruivenkamp, Claudia, Kriek, Marjolein, van Haeringen, Arie, Aten, Emmelien, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Haan, Eric, Shaw, Marie, Gecz, Jozef, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Schwartz, Charles, Kooy, R Frank, Vandeweyer, Geert, Helsmoortel, Celine, Romano, Corrado, Alberti, Antonino, Vinci, Mirella, Avola, Emanuela, Giusto, Stefania, Courchesne, Eric, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Amaral, David G, Scheffer, Ingrid E, Delatycki, Martin B, Lockhart, Paul J, Hormozdiari, Fereydoun, Harich, Benjamin, Castells-Nobau, Anna, Xia, Kun, Peeters, Hilde, Nordenskjöld, Magnus, Schenck, Annette, Bernier, Raphael A, Eichler, Evan E
Published in Nature genetics (01.04.2017)
Published in Nature genetics (01.04.2017)
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Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study
Stödberg, Tommy, Tomson, Torbjörn, Barbaro, Michela, Stranneheim, Henrik, Anderlid, Britt‐Marie, Carlsson, Sofia, Åmark, Per, Wedell, Anna
Published in Epilepsia (Copenhagen) (01.11.2020)
Published in Epilepsia (Copenhagen) (01.11.2020)
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Uysal, Betül, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Billette de Villemeur, Thierry, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Smith, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Corbett, Mark A., Goldmann, Eva, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, McCarrier, Julie, Botto, Lorenzo D., Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, El Achkar, Christelle M., Smith, Lacey A., Carss, Keren J., Rankin, Julia, Zeman, Adam, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Banka, Siddharth, Scheffer, Ingrid E., Zamponi, Gerald W., Mefford, Heather C.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
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
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
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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 intellectual disability
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
Published in Genome medicine (07.11.2019)
Published in Genome medicine (07.11.2019)
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An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis
Shahsavani, M, Pronk, R J, Falk, R, Lam, M, Moslem, M, Linker, S B, Salma, J, Day, K, Schuster, J, Anderlid, B-M, Dahl, N, Gage, F H, Falk, A
Published in Molecular psychiatry (01.07.2018)
Published in Molecular psychiatry (01.07.2018)
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Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
Lam, Matti, Moslem, Mohsen, Bryois, Julien, Pronk, Robin J., Uhlin, Elias, Ellström, Ivar Dehnisch, Laan, Loora, Olive, Jessica, Morse, Rebecca, Rönnholm, Harriet, Louhivuori, Lauri, Korol, Sergiy V., Dahl, Niklas, Uhlén, Per, Anderlid, Britt-Marie, Kele, Malin, Sullivan, Patrick F., Falk, Anna
Published in Experimental cell research (01.10.2019)
Published in Experimental cell research (01.10.2019)
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X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4
Smeds, Henrik, Wales, Jeremy, Karltorp, Eva, Anderlid, Britt-Marie, Henricson, Cecilia, Asp, Filip, Anmyr, Lena, Lagerstedt-Robinson, Kristina, Löfkvist, Ulrika
Published in Ear and hearing (01.01.2022)
Published in Ear and hearing (01.01.2022)
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A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Kvarnung, Malin, Nilsson, Daniel, Lindstrand, Anna, Korenke, G Christoph, Chiang, Samuel C C, Blennow, Elisabeth, Bergmann, Markus, Stödberg, Tommy, Mäkitie, Outi, Anderlid, Britt-Marie, Bryceson, Yenan T, Nordenskjöld, Magnus, Nordgren, Ann
Published in Journal of medical genetics (01.08.2013)
Published in Journal of medical genetics (01.08.2013)
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Letter to the Editor regarding the manuscript “Lissencephaly: Update on diagnostics and clinical management” by Koenig et al. Eur J Paediatr Neurol. 2021; 35; 147-152
Kolbjer, Sintia, Dahlin, Maria, Anderlid, Britt-Marie
Published in European journal of paediatric neurology (01.03.2022)
Published in European journal of paediatric neurology (01.03.2022)
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Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand, Anna, Ek, Marlene, Kvarnung, Malin, Anderlid, Britt-Marie, Björck, Erik, Carlsten, Jonas, Eisfeldt, Jesper, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Helgadóttir, Hafdís T., Hellström-Pigg, Maritta, Kuchinskaya, Ekaterina, Lagerstedt-Robinson, Kristina, Levin, Lars-Åke, Lieden, Agne, Lindelöf, Hillevi, Malmgren, Helena, Nilsson, Daniel, Svensson, Eva, Paucar, Martin, Sahlin, Ellika, Tesi, Bianca, Tham, Emma, Winberg, Johanna, Winerdal, Max, Wincent, Josephine, Johansson Soller, Maria, Pettersson, Maria, Nordgren, Ann
Published in Genetics in medicine (01.11.2022)
Published in Genetics in medicine (01.11.2022)
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Whole‐Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
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
Published in Human mutation (01.02.2017)
Published in Human mutation (01.02.2017)
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Benign paroxysmal torticollis of infancy does not lead to neurological sequelae
Danielsson, Annika, Anderlid, Britt‐Marie, Stödberg, Tommy, Lagerstedt‐Robinson, Kristina, Klackenberg Arrhenius, Eva, Tedroff, Kristina
Published in Developmental medicine and child neurology (01.12.2018)
Published in Developmental medicine and child neurology (01.12.2018)
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Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Dahl, Sara, Pettersson, Maria, Eisfeldt, Jesper, Schröder, Anna Katharina, Wickström, Ronny, Teär Fahnehjelm, Kristina, Anderlid, Britt-Marie, Lindstrand, Anna
Published in PloS one (10.02.2020)
Published in PloS one (10.02.2020)
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Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Weiss, Karin, Wigby, Kristen, Fannemel, Madeleine, Henderson, Lindsay B, Beck, Natalie, Ghali, Neeti, Study, D D D, Anderlid, Britt-Marie, Lundin, Johanna, Hamosh, Ada, Jones, Marilyn C, Ghedia, Sondhya, Muenke, Maximilian, Kruszka, Paul
Published in European journal of human genetics : EJHG (01.08.2017)
Published in European journal of human genetics : EJHG (01.08.2017)
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X-linked Malformation and Cochlear Implantation
Smeds, Henrik, Wales, Jeremy, Asp, Filip, Löfkvist, Ulrika, Falahat, Babak, Anderlid, Britt-Marie, Anmyr, Lena, Karltorp, Eva
Published in Otology & neurotology (01.01.2017)
Published in Otology & neurotology (01.01.2017)
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HLA Polymorphism in Regressive and Non-Regressive Autism: A Preliminary Study
Tamouza, Ryad, Fernell, Elisabeth, Eriksson, Mats Anders, Anderlid, Britt-Marie, Manier, Céline, Mariaselvam, Christina Mary, Boukouaci, Wahid, Leboyer, Marion, Gillberg, Christopher
Published in Autism research (01.02.2020)
Published in Autism research (01.02.2020)
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