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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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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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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Loss-of-function Variants of the Filaggrin Gene are Associated with Atopic Eczema and Associated Phenotypes in Swedish Families von EKELUND, Elisabeth, LIEDEN, Agne, LINK, Jenny, LEE, Simon P, D'AMATO, Mauro, PALMER, Colin N. A, KOCKUM, Ingrid, BRADLEY, Maria

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Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis von Winge, Mårten C.G, Hoppe, Torborg, Liedén, Agne, Nordenskjöld, Magnus, Vahlquist, Anders, Wahlgren, Carl-Fredrik, Törmä, Hans, Bradley, Maria, Berne, Berit

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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions von Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

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No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations von Winberg, Johanna, Berggren, Håkan, Malm, Torsten, Johansson, Sune, Johansson Ramgren, Jens, Nilsson, Boris, Liedén, Agne, Nordenskjöld, Agneta, Gustavsson, Peter, Nordgren, Ann

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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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Partial tetrasomy 14 associated with multiple malformations von Winberg, Johanna, Lagerstedt Robinson, Kristina, Naess, Karin, Lesko, Nicole, Wibom, Rolf, Liedén, Agne, Anderlid, Britt-Marie, Graff, Caroline, Nordenskjöld, Agneta, Nordgren, Ann, Gustavsson, Peter

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Nasal speech in patients with 12q15 microdeletions von Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

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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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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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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome von Verberne, Eline A., Goh, Shuxiang, England, Jade, van Ginkel, Manon, Rafael-Croes, Louise, Maas, Saskia, Polstra, Abeltje, Zarate, Yuri A., Bosanko, Katherine A., Pechter, Kieran B., Bedoukian, Emma, Izumi, Kosuke, Chaudhry, Ayeshah, Robin, Nathaniel H., Boothe, Megan, Lippa, Natalie C., Aggarwal, Vimla, De Vivo, Darryl C., Lehman, Anna, Study, Causes, Stockler, Sylvia, Bruel, Ange-Line, Isidor, Bertrand, Lemons, Jennifer, Rodriguez-Buritica, David F., Richmond, Christopher M., Stark, Zornitza, Agrawal, Pankaj B., Kooy, R. Frank, Meuwissen, Marije E. C., Koolen, David A., Pfundt, Rolf, Lieden, Agne, Anderlid, Britt-Marie, Glatz, Dagmar, Mannens, Marcel M. A. M., Bakshi, Madhura, Mallette, Frédérick A., van Haelst, Mieke M., Campeau, Philippe M.

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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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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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Identification of putative pathogenic single nucleotide variants 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 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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