Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women. by Ellika Sahlin, Magnus Nordenskjöld, Peter Gustavsson, Josephine Wincent, Susanne Georgsson, Erik Iwarsson

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Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study by Cecilia Arthur, Cecilia Arthur, Fatemah Rezayee, Fatemah Rezayee, Nina Mogensen, Nina Mogensen, Leonie Saft, Leonie Saft, Richard Rosenquist, Richard Rosenquist, Magnus Nordenskjöld, Magnus Nordenskjöld, Arja Harila-Saari, Emma Tham, Emma Tham, Gisela Barbany, Gisela Barbany

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Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. by Mårten C G Winge, Torborg Hoppe, Berit Berne, Anders Vahlquist, Magnus Nordenskjöld, Maria Bradley, Hans Törmä

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Liquid biopsy guides successful molecular targeted therapy of an inoperable pediatric brainstem neoplasm by Cecilia Arthur, Lena-Maria Carlson, Jan Svoboda, Ulrika Sandvik, Cecilia Jylhä, Magnus Nordenskjöld, Stefan Holm, Emma Tham

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

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Global expression profiling in atopic eczema reveals reciprocal expression of inflammatory and lipid genes. by Annika M Sääf, Maria Tengvall-Linder, Howard Y Chang, Adam S Adler, Carl-Fredrik Wahlgren, Annika Scheynius, Magnus Nordenskjöld, Maria Bradley

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High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing. by Anh Nhi Tran, Fulya Taylan, Vasilios Zachariadis, Ingegerd Ivanov Öfverholm, Anna Lindstrand, Francesco Vezzi, Britta Lötstedt, Magnus Nordenskjöld, Ann Nordgren, Daniel Nilsson, Gisela Barbany

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Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma by Cecilia Arthur, Cecilia Jylhä, Teresita Díaz de Ståhl, Alia Shamikh, Johanna Sandgren, Richard Rosenquist, Magnus Nordenskjöld, Arja Harila, Gisela Barbany, Ulrika Sandvik, Emma Tham

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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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A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population. by Kristina Lagerstedt-Robinson, Izabella Baranowska Körberg, Stefanos Tsiaprazis, Erik Björck, Emma Tham, Anna Poluha, Maritta Hellström Pigg, Ylva Paulsson-Karlsson, Magnus Nordenskjöld, Maria Johansson-Soller, Christos Aravidis

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Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer by Karin Wallander, Zahra Haider, Ashwini Jeggari, Hassan Foroughi-Asl, Anna Gellerbring, Anna Lyander, Athithyan Chozhan, Ollanta Cuba Gyllensten, Moa Hägglund, Valtteri Wirta, Magnus Nordenskjöld, Mats Lindblad, Emma Tham

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

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Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance. by Jorge Esparza-Gordillo, Anja Matanovic, Ingo Marenholz, Anja Bauerfeind, Klaus Rohde, Katja Nemat, Min-Ae Lee-Kirsch, Magnus Nordenskjöld, Marten C G Winge, Thomas Keil, Renate Krüger, Susanne Lau, Kirsten Beyer, Birgit Kalb, Bodo Niggemann, Norbert Hübner, Heather J Cordell, Maria Bradley, Young-Ae Lee

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A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking. by Swati Khare, Jerelyn A Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P W Ranum, Lisa Smithson, Todd E Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E Rincon-Limas, Jada Lewis, Leonard K Kaczmarek, Pedro Fernandez-Funez, Harry S Nick, Michael F Waters

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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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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders by Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler

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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders by Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler

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