Multi-Omic Investigations of a 17–19 Translocation Links <i>MINK1</i> Disruption to Autism, Epilepsy and Osteoporosis by Jesper Eisfeldt, Jakob Schuy, Eva-Lena Stattin, Malin Kvarnung, Anna Falk, Lars Feuk, Anna Lindstrand

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text