Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing by Josephine Wincent, Hafdís T. Helgadóttir, Fotios Sergouniotis, Angelo Salazar Mantero, Claudia M. B. Carvalho, Helena Malmgren, Anna Lindstrand, Erik Iwarsson

Get full text

A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease by Emma Ehn, Jesper Eisfeldt, Jose M. Laffita-Mesa, Håkan Thonberg, Jacqueline Schoumans, Anne M. Portaankorva, Matti Viitanen, Anna Lindstrand, Inger Nennesmo, Caroline Graff

Get full text

Author Correction: A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease by Emma Ehn, Jesper Eisfeldt, Jose M. Laffita-Mesa, Håkan Thonberg, Jacqueline Schoumans, Anne M. Portaankorva, Matti Viitanen, Anna Lindstrand, Inger Nennesmo, Caroline Graff

Get full text

P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene by Shruti Pande, Christopher Grochowski, Davut Pehlivan, Parneet Kaur, Zain Dardas, Haowei Du, Chelsi Rose, Josephine Wincent, Shalini Jhangiani, Lorraine Potocki, Philip Hastings, Jennifer Posey, Anna Lindstrand, Claudia Carvalho, James Lupski

Get full text

11: To remap or not to remap: the relevance of the genome references to resolve rare inversions by Claudia M.B. Carvalho, Kristine Bilgrav Saether, Jesse Bengtsson, Jesper Eisfeldt, Ming Yin Lun, Jakob Schuy, Medhat Mahmoud, Christopher M. Grochowski, Davut Pehlivan, Fritz J. Sedlazeck, Jill A. Rosenfeld, Pengfei Liu, Weimin Bi, Ronit Marom, Anna Lindstrand

Get full text

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting by Helena Malmgren, Helena Malmgren, Malin Kvarnung, Malin Kvarnung, Peter Gustafsson, Peter Gustafsson, Britt-Marie Anderlid, Britt-Marie Anderlid, Cecilia Arthur, Cecilia Arthur, Jonas Carlsten, Jonas Carlsten, Karl De Geer, Karl De Geer, Emma Ehn, Emma Ehn, Giedre Grigelioniené, Giedre Grigelioniené, Anna Hammarsjö, Anna Hammarsjö, Hafdis T. Helgadottir, Hafdis T. Helgadottir, Maritta Hellström-Pigg, Maritta Hellström-Pigg, Erik Iwarsson, Erik Iwarsson, Ekaterina Kuchinskaya, Ekaterina Kuchinskaya, Hillevi Lindelöf, Hillevi Lindelöf, Maria Mannila, Maria Mannila, Daniel Nilsson, Daniel Nilsson, Maria Pettersson, Maria Pettersson, Eva Rudd, Eva Rudd, Ellika Sahlin, Ellika Sahlin, Bianca Tesi, Bianca Tesi, Emma Tham, Emma Tham, Håkan Thonberg, Håkan Thonberg, Eini Westenius, Eini Westenius, Johanna Winberg, Johanna Winberg, Max Winerdal, Max Winerdal, Magnus Nordenskjöld, Magnus Nordenskjöld, Maria Johansson-Soller, Maria Johansson-Soller, Valtteri Wirta, Valtteri Wirta, Ann Nordgren, Ann Nordgren, Anna Lindstrand, Anna Lindstrand, Kristina Lagerstedt-Robinson, Kristina Lagerstedt-Robinson

Get full text

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression by Davut Pehlivan, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J. Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S. Shinawi, Virginia E. Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M. Vianna-Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James P. Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, Claudia M. B. Carvalho

Get full text