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

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NRXN1 Deletion and Exposure to Methylmercury Increase Astrocyte Differentiation by Different Notch-Dependent Transcriptional Mechanisms by Marilena Raciti, Jahan Salma, Stefan Spulber, Giulia Gaudenzi, Zahra Khalajzeyqami, Mirko Conti, Britt-Marie Anderlid, Britt-Marie Anderlid, Anna Falk, Ola Hermanson, Sandra Ceccatelli

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Minor physical anomalies in neurodevelopmental disorders: a twin study by Lynnea Myers, Britt-Marie Anderlid, Ann Nordgren, Charlotte Willfors, Ralf Kuja-Halkola, Kristiina Tammimies, Sven Bölte

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ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function by Jens Schuster, Joakim Klar, Ayda Khalfallah, Loora Laan, Jan Hoeber, Ambrin Fatima, Velin Marita Sequeira, Zhe Jin, Sergiy V. Korol, Mikael Huss, Ann Nordgren, Ann Nordgren, Britt Marie Anderlid, Britt Marie Anderlid, Caroline Gallant, Bryndis Birnir, Niklas Dahl

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Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency by Marlene Ek, Malin Kvarnung, Maria Pettersson, Maria Johansson Soller, Britt-Marie Anderlid, Håkan Thonberg, Jesper Eisfeldt, Anna Lindstrand

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Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications by Lynnea Myers, Moira Blyth, Kamran Moradkhani, Dubravka Hranilović, Sam Polesie, Johan Isaksson, Ann Nordgren, Maja Bucan, Marie Vincent, Sven Bölte, Britt‐Marie Anderlid, Kristiina Tammimies

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Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186 by Malin Kvarnung, Malin Kvarnung, Mansoureh Shahsavani, Mansoureh Shahsavani, Fulya Taylan, Mohsen Moslem, Nicole Breeuwsma, Loora Laan, Jens Schuster, Zhe Jin, Daniel Nilsson, Daniel Nilsson, Agne Lieden, Agne Lieden, Britt-Marie Anderlid, Britt-Marie Anderlid, Magnus Nordenskjöld, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Elisabeth Syk Lundberg, Bryndis Birnir, Niklas Dahl, Ann Nordgren, Ann Nordgren, Anna Lindstrand, Anna Lindstrand, Anna Falk

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Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disord... by Marlene Ek, Marlene Ek, Daniel Nilsson, Daniel Nilsson, Daniel Nilsson, Martin Engvall, Martin Engvall, Helena Malmgren, Helena Malmgren, Håkan Thonberg, Håkan Thonberg, Maria Pettersson, Maria Pettersson, Britt-Marie Anderlid, Britt-Marie Anderlid, Anna Hammarsjö, Anna Hammarsjö, Hafdis T. Helgadottir, Hafdis T. Helgadottir, Snjolaug Arnardottir, Karin Naess, Karin Naess, Inger Nennesmo, Martin Paucar, Martin Paucar, Helgi Thor Hjartarson, Rayomand Press, Göran Solders, Göran Solders, Thomas Sejersen, Thomas Sejersen, Anna Lindstrand, Anna Lindstrand, Malin Kvarnung, Malin Kvarnung

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

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

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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... by Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M. B. Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii-Hemming, Erik Iwarsson, Maria Johansson-Soller, Kristina Lagerstedt-Robinson, Agne Lieden, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson

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