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

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Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization von Nazaryan-Petersen, Lusine, Eisfeldt, Jesper, Pettersson, Maria, Lundin, Johanna, Nilsson, Daniel, Wincent, Josephine, Lieden, Agne, Lovmar, Lovisa, Ottosson, Jesper, Gacic, Jelena, Mäkitie, Outi, Nordgren, Ann, Vezzi, Francesco, Wirta, Valtteri, Käller, Max, Hjortshøj, Tina Duelund, Jespersgaard, Cathrine, Houssari, Rayan, Pignata, Laura, Bak, Mads, Tommerup, Niels, Lundberg, Elisabeth Syk, Tümer, Zeynep, Lindstrand, Anna

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Deletion of Wiskott–Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells von Baptista, Marisa A. P., Keszei, Marton, Oliveira, Mariana, Sunahara, Karen K. S., Andersson, John, Dahlberg, Carin I. M., Worth, Austen J., Liedén, Agne, Kuo, I-Chun, Wallin, Robert P. A., Snapper, Scott B., Eidsmo, Liv, Scheynius, Annika, Karlsson, Mikael C. I., Bouma, Gerben, Burns, Siobhan O., Forsell, Mattias N. E., Thrasher, Adrian J., Nylén, Susanne, Westerberg, Lisa S.

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TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons von Caubit, Xavier, Gubellini, Paolo, Andrieux, Joris, Roubertoux, Pierre L, Metwaly, Mehdi, Jacq, Bernard, Fatmi, Ahmed, Had-Aissouni, Laurence, Kwan, Kenneth Y, Salin, Pascal, Carlier, Michèle, Liedén, Agne, Rudd, Eva, Shinawi, Marwan, Vincent-Delorme, Catherine, Cuisset, Jean-Marie, Lemaitre, Marie-Pierre, Abderrehamane, Fatimetou, Duban, Bénédicte, Lemaitre, Jean-François, Woolf, Adrian S, Bockenhauer, Detlef, Severac, Dany, Dubois, Emeric, Zhu, Ying, Sestan, Nenad, Garratt, Alistair N, Kerkerian-Le Goff, Lydia, Fasano, Laurent

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Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis von Taylan, Fulya, PhD, Nilsson, Daniel, PhD, Asad, Samina, PhD, Lieden, Agne, PhD, Wahlgren, Carl-Fredrik, MD, PhD, Winge, Mårten C.G., MD, PhD, Bilcha, Kassahun Desalegn, MD, Nordenskjöld, Magnus, MD, PhD, Bradley, Maria, MD, PhD

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Genetic Variation in the Inflammasome and Atopic Dermatitis Susceptibility von Bivik, Cecilia, Verma, Deepti, Winge, Mårten C., Lieden, Agne, Bradley, Maria, Rosdahl, Inger, Söderkvist, Peter

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Skin Barrier Function and Staphylococcus aureus Colonization in Vestibulum Nasi and Fauces in Healthy Infants and Infants with Eczema: A Population-Based Cohort Study von Berents, Teresa Løvold, Carlsen, Karin Cecilie Lødrup, Mowinckel, Petter, Skjerven, Håvard Ove, Kvenshagen, Bente, Rolfsjord, Leif Bjarte, Bradley, Maria, Lieden, Agne, Carlsen, Kai-Håkon, Gaustad, Peter, Gjersvik, Petter

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Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability von Kasher, Paul R., Schertz, Katherine E., Thomas, Megan, Jackson, Adam, Annunziata, Silvia, Ballesta-Martinez, María J., Campeau, Philippe M., Clayton, Peter E., Eaton, Jennifer L., Granata, Tiziana, Guillén-Navarro, Encarna, Hernando, Cristina, Laverriere, Caroline E., Liedén, Agne, Villa-Marcos, Olaya, McEntagart, Meriel, Nordgren, Ann, Pantaleoni, Chiara, Pebrel-Richard, Céline, Sarret, Catherine, Sciacca, Francesca L., Wright, Ronnie, Kerr, Bronwyn, Glasgow, Eric, Banka, Siddharth

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

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Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients von Wallander, Karin, Eisfeldt, Jesper, Lindblad, Mats, Nilsson, Daniel, Billiau, Kenny, Foroughi, Hassan, Nordenskjöld, Magnus, Liedén, Agne, Tham, Emma

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Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth von Sahlin, Ellika, Gréen, Anna, Gustavsson, Peter, Liedén, Agne, Nordenskjöld, Magnus, Papadogiannakis, Nikos, Pettersson, Karin, Nilsson, Daniel, Jonasson, Jon, Iwarsson, Erik

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Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis von Liedén, Agne, Winge, Mårten C G, Sääf, Annika, Kockum, Ingrid, Ekelund, Elisabeth, Rodriguez, Elke, Fölster-Holst, Regina, Franke, Andre, Illig, Thomas, Tengvall-Linder, Maria, Baurecht, Hansjörg, Weidinger, Stephan, Wahlgren, Carl-Fredrik, Nordenskjöld, Magnus, Bradley, Maria

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Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumor von Lim, Mei Ling, Ooi, Brandon Nick Sern, Jungebluth, Philipp, Sjöqvist, Sebastian, Hultman, Isabell, Lemon, Greg, Gustafsson, Ylva, Asmundsson, Jurate, Baiguera, Silvia, Douagi, Iyadh, Gilevich, Irina, Popova, Alina, Haag, Johannes Cornelius, Rodríguez, Antonio Beltrán, Lim, Jianri, Liedén, Agne, Nordenskjöld, Magnus, Alici, Evren, Baker, Duncan, Unger, Christian, Luedde, Tom, Vassiliev, Ivan, Inzunza, Jose, Ahrlund-Richter, Lars, Macchiarini, Paolo

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Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome von Liedén, Agne, Kvarnung, Malin, Nilssson, Daniel, Sahlin, Ellika, Lundberg, Elisabeth Syk

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Prognosis of Preschool Eczema and Factors of Importance for Remission von Johansson, Emma Kristin, Bergström, Anna, Kull, Inger, Lind, Tomas, Söderhäll, Cilla, Melén, Erik, Asad, Samina, Bradley, Maria, Liedén, Agne, Ballardini, Natalia, Wahlgren, Carl-Fredrik

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Rare copy number variants are common in young children with autism spectrum disorder von Eriksson, Mats Anders, Liedén, Agne, Westerlund, Joakim, Bremer, Anna, Wincent, Josephine, Sahlin, Ellika, Gillberg, Christopher, Fernell, Elisabeth, Anderlid, Britt-Marie

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A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis von Weidinger, Stephan, Willis-Owen, Saffron A G, Kamatani, Yoichiro, Baurecht, Hansjörg, Morar, Nilesh, Liang, Liming, Edser, Pauline, Street, Teresa, Rodriguez, Elke, O'Regan, Grainne M, Beattie, Paula, Fölster-Holst, Regina, Franke, Andre, Novak, Natalija, Fahy, Caoimhe M, Winge, Mårten C G, Kabesch, Michael, Illig, Thomas, Heath, Simon, Söderhäll, Cilla, Melén, Erik, Pershagen, Göran, Kere, Juha, Bradley, Maria, Lieden, Agne, Nordenskjold, Magnus, Harper, John I, McLean, W H Irwin, Brown, Sara J, Cookson, William O C, Lathrop, G Mark, Irvine, Alan D, Moffatt, Miriam F

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Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability von 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

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Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases von Sahlin, Ellika, Gustavsson, Peter, Liedén, Agne, Papadogiannakis, Nikos, Bjäreborn, Linus, Pettersson, Karin, Nordenskjöld, Magnus, Iwarsson, Erik

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DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome von 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.

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