Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Authors: Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell

Source: Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)

Subject Terms: Whole genome sequencing, Monogenic disease, Single nucleotide variant, Clinical diagnostics, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/24239a4e507a406db912b81371637d5d

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Authors: 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

Source: Genome Medicine, Vol 11, Iss 1, Pp 1-23 (2019)

Subject Terms: Whole-genome sequencing, Intellectual disability, Monogenic disease, Copy number variation, Structural variation, Single nucleotide variant, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-019-0675-1; https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/494c641092944226bbd8ae351521590b

Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations

Authors: Johanna Winberg, Peter Gustavsson, Ellika Sahlin, Magnus Larsson, Henrik Ehrén, Magdalena Fossum, Tomas Wester, Ann Nordgren, Agneta Nordenskjöld

Source: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)

Subject Terms: anorectal malformations, array‐CGH, copy number variation, esophageal atresia, hydronephrosis, mosaicism, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/76332acb74b144faaa2979a8badaa4a0

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Authors: Ellika Sahlin, Anna Gréen, Peter Gustavsson, Agne Liedén, Magnus Nordenskjöld, Nikos Papadogiannakis, Karin Pettersson, Daniel Nilsson, Jon Jonasson, Erik Iwarsson

Source: PLoS ONE, Vol 14, Iss 1, p e0210017 (2019)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/5cd0933b4831411ea6ffe7d07dac66f3

Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women.

Authors: Ellika Sahlin, Magnus Nordenskjöld, Peter Gustavsson, Josephine Wincent, Susanne Georgsson, Erik Iwarsson

Source: PLoS ONE, Vol 11, Iss 5, p e0156088 (2016)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4872994?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/5a56c7380c314e8dac1c8286eceaee82

Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.

Authors: Johanna Winberg, Peter Gustavsson, Nikos Papadogiannakis, Ellika Sahlin, Frideborg Bradley, Edvard Nordenskjöld, Pär-Johan Svensson, Göran Annerén, Erik Iwarsson, Ann Nordgren, Agneta Nordenskjöld

Source: PLoS ONE, Vol 9, Iss 1, p e85313 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3887047?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/be03f2e64237499597fc781bc3a38ebc

Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in mice.

Authors: Sandra C P De Castro, Ashraf Malhas, Kit-Yi Leung, Peter Gustavsson, David J Vaux, Andrew J Copp, Nicholas D E Greene

Source: PLoS Genetics, Vol 8, Iss 11, p e1003059 (2012)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003059&type=printable; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/211f79518c44404888c27ce8a129e4ab

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Strategies, Deliberate and Emergent Strategic processes in small and medium sized Swedish companies in the IT-industry

Authors: Ehn Alexander 1983-, Linköpings universitet, Ekonomiska institutionen, Yang Zheng 1979-, Linköpings universitet, Ekonomiska institutionen

Contributors: Peter Gustavsson, Jörgen Ljung, Linköpings universitet Ekonomiska institutionen, University of Lköping The Economic Institution

Availability: http://data.europeana.eu/aggregation/europeana/9200111/BibliographicResource_1000085944085

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