Actors' perspectives on barriers to the use of sewage sludge in Sweden by Oskar Johansson, Maria Pettersson, Torben Bauer

Get full text

Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model by Jakob Schuy, Jesper Eisfeldt, Jesper Eisfeldt, Jesper Eisfeldt, Maria Pettersson, Maria Pettersson, Niloofar Shahrokhshahi, Mohsen Moslem, Daniel Nilsson, Daniel Nilsson, Daniel Nilsson, Niklas Dahl, Mansoureh Shahsavani, Anna Falk, Anna Falk, Anna Lindstrand, Anna Lindstrand

Get full text

Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency by Marlene Ek, Malin Kvarnung, Maria Pettersson, Maria Johansson Soller, Britt-Marie Anderlid, Håkan Thonberg, Jesper Eisfeldt, Anna Lindstrand

Get full text

The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders by Hannes Runheim, Maria Pettersson, Anna Hammarsjö, Ann Nordgren, Martin Henriksson, Anna Lindstrand, Lars-Åke Levin, Maria Johansson Soller

Get full text

A Missense Variant in <i>PDK1</i> Associated with Severe Neurodevelopmental Delay and Epilepsy by Raquel Vaz, Josephine Wincent, Najla Elfissi, Kristina Rosengren Forsblad, Maria Pettersson, Karin Naess, Anna Wedell, Anna Wredenberg, Anna Lindstrand, Sofia Ygberg

Get full text

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome by Alexandra Garza Flores, Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Daniel Nilsson, Anna Hammarsjö, Anna Hammarsjö, Anna Lindstrand, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David S. Walton, Paula Goldenberg, Jesper Eisfeldt, Jesper Eisfeldt, Angela E. Lin, Ralph S. Lachman, Ralph S. Lachman, Ralph S. Lachman, Gen Nishimura, Gen Nishimura, Giedre Grigelioniene, Giedre Grigelioniene, Giedre Grigelioniene

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

A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements by Jakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, Marlene Ek, Christopher M. Grochowski, Ming Yin Lun, Alex Hastie, Susanne Rudolph, Sigrid Fuchs, Kornelia Neveling, Maja Hempel, Alexander Hoischen, Maria Pettersson, Claudia M.B. Carvalho, Jesper Eisfeldt, Anna Lindstrand

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