Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome

por Nag, Heidi Elisabeth, Nordgren, Ann, Anderlid, Britt-Marie, Nærland, Terje
Publicado 2018

Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population‐based study

por Stödberg, Tommy, Tomson, Torbjörn, Anderlid, Britt‐Marie, Andersson, Tomas, Henry, Olivia, Åmark, Per, Wedell, Anna
Publicado 2022

Minor physical anomalies in neurodevelopmental disorders: a twin study

por Myers, Lynnea, Anderlid, Britt-Marie, Nordgren, Ann, Willfors, Charlotte, Kuja-Halkola, Ralf, Tammimies, Kristiina, Bölte, Sven
Publicado 2017

Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study

por Stödberg, Tommy, Tomson, Torbjörn, Barbaro, Michela, Stranneheim, Henrik, Anderlid, Britt‐Marie, Carlsson, Sofia, Åmark, Per, Wedell, Anna
Publicado 2020

Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort

por Kolbjer, Sintia, Martín Muñoz, Daniel A, Örtqvist, Anne K, Pettersson, Maria, Hammarsjö, Anna, Anderlid, Britt-Marie, Dahlin, Maria
Publicado 2023

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

por Wincent, Josephine, Luthman, Aron, van Belzen, Martine, van der Lans, Christian, Albert, Johanna, Nordgren, Ann, Anderlid, Britt‐Marie
Publicado 2015

Erratum

por Wincent, Josephine, Luthman, Aron, van Belzen, Martine, van der Lans, Christian, Albert, Johanna, Nordgren, Ann, Anderlid, Britt‐Marie
Publicado 2016

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia

por Dahl, Sara, Pettersson, Maria, Eisfeldt, Jesper, Schröder, Anna Katharina, Wickström, Ronny, Teär Fahnehjelm, Kristina, Anderlid, Britt-Marie, Lindstrand, Anna
Publicado 2020

X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4

por Smeds, Henrik, Wales, Jeremy, Karltorp, Eva, Anderlid, Britt-Marie, Henricson, Cecilia, Asp, Filip, Anmyr, Lena, Lagerstedt-Robinson, Kristina, Löfkvist, Ulrika
Publicado 2021

NRXN1 Deletion and Exposure to Methylmercury Increase Astrocyte Differentiation by Different Notch-Dependent Transcriptional Mechanisms

por Raciti, Marilena, Salma, Jahan, Spulber, Stefan, Gaudenzi, Giulia, Khalajzeyqami, Zahra, Conti, Mirko, Anderlid, Britt-Marie, Falk, Anna, Hermanson, Ola, Ceccatelli, Sandra
Publicado 2019

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

por Myers, Lynnea, Blyth, Moira, Moradkhani, Kamran, Hranilović, Dubravka, Polesie, Sam, Isaksson, Johan, Nordgren, Ann, Bucan, Maja, Vincent, Marie, Bölte, Sven, Anderlid, Britt‐Marie, Tammimies, Kristiina
Publicado 2019

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

por van der Schoot, Vyne, de Munnik, Sonja, Venselaar, Hanka, Elting, Mariet, Mancini, Grazia M. S., Ravenswaaij‐Arts, Conny M. A., Anderlid, Britt‐Marie, Brunner, Han G., Stevens, Servi J. C.
Publicado 2018

ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function

por Schuster, Jens, Klar, Joakim, Khalfallah, Ayda, Laan, Loora, Hoeber, Jan, Fatima, Ambrin, Sequeira, Velin Marita, Jin, Zhe, Korol, Sergiy V., Huss, Mikael, Nordgren, Ann, Anderlid, Britt Marie, Gallant, Caroline, Birnir, Bryndis, Dahl, Niklas
Publicado 2022

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

por 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.
Publicado 2014

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

por Kvarnung, Malin, Shahsavani, Mansoureh, Taylan, Fulya, Moslem, Mohsen, Breeuwsma, Nicole, Laan, Loora, Schuster, Jens, Jin, Zhe, Nilsson, Daniel, Lieden, Agne, Anderlid, Britt-Marie, Nordenskjöld, Magnus, Syk Lundberg, Elisabeth, Birnir, Bryndis, Dahl, Niklas, Nordgren, Ann, Lindstrand, Anna, Falk, Anna
Publicado 2019

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disord...

por Ek, Marlene, Nilsson, Daniel, Engvall, Martin, Malmgren, Helena, Thonberg, Håkan, Pettersson, Maria, Anderlid, Britt-Marie, Hammarsjö, Anna, Helgadottir, Hafdis T., Arnardottir, Snjolaug, Naess, Karin, Nennesmo, Inger, Paucar, Martin, Hjartarson, Helgi Thor, Press, Rayomand, Solders, Göran, Sejersen, Thomas, Lindstrand, Anna, Kvarnung, Malin
Publicado 2023

Presynaptic dysfunction in CASK-related neurodevelopmental disorders

por 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
Publicado 2020

Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis

por 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
Publicado 2023

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell...

por 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
Publicado 2019

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

por 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.
Publicado 2022