Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
Ten Berk de Boer, Esmee, Ameur, Adam, Bunikis, Ignas, Ek, Marlene, Stattin, Eva-Lena, Feuk, Lars, Eisfeldt, Jesper, Lindstrand, Anna
Published in Scientific reports (18.04.2024)
Published in Scientific reports (18.04.2024)
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A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
Schuy, Jakob, Sæther, Kristine Bilgrav, Lisfeld, Jasmin, Ek, Marlene, Grochowski, Christopher M., Lun, Ming Yin, Hastie, Alex, Rudolph, Susanne, Fuchs, Sigrid, Neveling, Kornelia, Hempel, Maja, Hoischen, Alexander, Pettersson, Maria, Carvalho, Claudia M.B., Eisfeldt, Jesper, Lindstrand, Anna
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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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 disorders
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
Published in Frontiers in neurology (2023)
Published in Frontiers in neurology (2023)
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Uncommon Variants in FLG2 and NOD2 Are Associated with Atopic Dermatitis in the Ethiopian Population
Wang, Sailan, Elmgren, Julia K., Eisfeldt, Jesper, Asad, Samina, Ek, Marlene, Bilcha, Kassahun, Befekadu, Annisa, Wahlgren, Carl-Fredrik, Nordenskjöld, Magnus, Taylan, Fulya, Tapia-Paez, Isabel, Bradley, Maria
Published in JID innovations (01.07.2024)
Published in JID innovations (01.07.2024)
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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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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, Helgadottir, 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, Soller, Maria Johansson, Pettersson, Maria, Nordgren, Ann
Published in Pathology (01.02.2023)
Published in Pathology (01.02.2023)
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