Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Maria Johansson Soller"'
Autor:
Hannes Runheim, Maria Pettersson, Anna Hammarsjö, Ann Nordgren, Martin Henriksson, Anna Lindstrand, Lars-Åke Levin, Maria Johansson Soller
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract Whole genome sequencing (WGS) has the potential to be a comprehensive genetic test, especially relevant for individuals with neurodevelopmental disorders, syndromes and congenital malformations. However, the cost consequences of using whole
Externí odkaz:
https://doaj.org/article/ed547b24e60847ae8691c1c9643cc7ce
Autor:
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
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)
Abstract Background We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015. GMCK-RD repr
Externí odkaz:
https://doaj.org/article/24239a4e507a406db912b81371637d5d
Autor:
Jennifer Hammond, Jasmijn E Klapwijk, Sam Riedijk, Stina Lou, Kelly E Ormond, Ida Vogel, Lisa Hui, Emma-Jane Sziepe, James Buchanan, Charlotta Ingvoldstad-Malmgren, Maria Johansson Soller, Eleanor Harding, Melissa Hill, Celine Lewis
Publikováno v:
PLoS ONE, Vol 17, Iss 1, p e0261898 (2022)
Prenatal DNA tests, such as chromosomal microarray analysis or exome sequencing, increase the likelihood of receiving a diagnosis when fetal structural anomalies are identified. However, some parents will receive uncertain results such as variants of
Externí odkaz:
https://doaj.org/article/9d1157129095401b99b936452baba713
Autor:
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
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-23 (2019)
Abstract Background Since different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal
Externí odkaz:
https://doaj.org/article/494c641092944226bbd8ae351521590b
Autor:
Thoas Fioretos, Valtteri Wirta, Lucia Cavelier, Eva Berglund, Mikaela Friedman, Michael Akhras, Johan Botling, Hans Ehrencrona, Lars Engstrand, Gisela Helenius, Therese Fagerqvist, David Gisselsson, Sofia Gruvberger-Saal, Ulf Gyllensten, Markus Heidenblad, Kina Höglund, Bo Jacobsson, Maria Johansson, Åsa Johansson, Maria Johansson Soller, Maréne Landström, Pär Larsson, Lars-Åke Levin, Anna Lindstrand, Lovisa Lovmar, Anna Lyander, Malin Melin, Ann Nordgren, Gunnel Nordmark, Paula Mölling, Lars Palmqvist, Richard Palmqvist, Dirk Repsilber, Per Sikora, Bianca Stenmark, Peter Söderkvist, Henrik Stranneheim, Tobias Strid, Craig E. Wheelock, Mia Wadelius, Anna Wedell, Anders Edsjö, Richard Rosenquist
Publikováno v:
Nature Medicine. 28:1980-1982
Autor:
Kelly E. Ormond, Mahesh Choolani, Melissa Hill, Celine Lewis, Jennifer Hammond, Ida Vogel, Stina Lou, Sam Riedijk, Charlotta Ingvoldstad-Malmgren, Lisa Hui, Jasmijn E. Klapwijk, Emma Jane Szepe, Eleanor Harding, Maria Johansson Soller
Publikováno v:
Lewis, C, Hammond, J, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Szepe, E J, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Hill, M & Riedijk, S 2021, ' Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting : an international cross-sectional study with healthcare professionals ', Prenatal Diagnosis, vol. 41, no. 6, pp. 720-732 . https://doi.org/10.1002/pd.5932
Prenatal Diagnosis, 41(6), 720-732. John Wiley and Sons Ltd
Lewis, C, Hammond, J, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Szepe, E J, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Hill, M & Riedijk, S 2021, ' Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting : An international cross-sectional study with healthcare professionals ', Prenatal Diagnosis, vol. 41, no. 6, pp. 720-732 . https://doi.org/10.1002/pd.5932
Prenatal Diagnosis
Prenatal Diagnosis, 41(6), 720-732. John Wiley & Sons Ltd.
Prenatal Diagnosis, 41(6), 720-732. John Wiley and Sons Ltd
Lewis, C, Hammond, J, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Szepe, E J, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Hill, M & Riedijk, S 2021, ' Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting : An international cross-sectional study with healthcare professionals ', Prenatal Diagnosis, vol. 41, no. 6, pp. 720-732 . https://doi.org/10.1002/pd.5932
Prenatal Diagnosis
Prenatal Diagnosis, 41(6), 720-732. John Wiley & Sons Ltd.
Objectives To conduct qualitative interviews with healthcare providers working in different countries to understand their experiences of dealing with uncertain results from prenatal chromosome microarray analysis (CMA) and exome sequencing (ES). Meth
Autor:
Charlotta Ingvoldstad Malmgren, Boris Chaumette, Lejla Pojskic, Kati Koido, Maria Johansson Soller, Kristiina Tammimies
Publikováno v:
European Neuropsychopharmacology. 63:e271-e272
Autor:
Kati Koido, Charlotta Ingvoldstad-Malmgren, Lejla Pojskic, Maria Johansson Soller, Evelien Van Assche, Isabella Borg, Uffe Birk Jensen, null Members of EnGagE, Domenico Coviello, Marcella Rietschel, Maria Grigoroiu-Serbanescu, Andrew McQuillin, Franziska Degenhardt, Kristiina Tammimies, Boris Chaumette
Publikováno v:
European Neuropsychopharmacology. 63:e314-e315
Autor:
Anna Lindstrand, Marlene Ek, Malin Kvarnung, Britt-Marie Anderlid, Erik Björck, Jonas Carlsten, Jesper Eisfeldt, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Hafdís T. Helgadóttir, Maritta Hellström-Pigg, Ekaterina Kuchinskaya, Kristina Lagerstedt-Robinson, Lars-Åke Levin, Agne Lieden, Hillevi Lindelöf, Helena Malmgren, Daniel Nilsson, Eva Svensson, Martin Paucar, Ellika Sahlin, Bianca Tesi, Emma Tham, Johanna Winberg, Max Winerdal, Josephine Wincent, Maria Johansson Soller, Maria Pettersson, Ann Nordgren
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(11)
Purpose: Individuals with intellectual disability (ID) and/or neurodevelopment disorders (NDDs) are currently investigated with several different approaches in clinical genetic diagnostics. Methods: We compared the results from 3 diagnostic pipelines
Autor:
James Buchanan, Melissa Hill, Caroline M. Vass, Jennifer Hammond, Sam Riedijk, Jasmijn E. Klapwijk, Eleanor Harding, Stina Lou, Ida Vogel, Lisa Hui, Charlotta Ingvoldstad‐Malmgren, Maria Johansson Soller, Kelly E. Ormond, Mahesh Choolani, Qian Zheng, Lyn S. Chitty, Celine Lewis
Publikováno v:
Prenatal Diagnosis, 42 (7)
Buchanan, J, Hill, M, Vass, C M, Hammond, J, Riedijk, S, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Zheng, Q, Chitty, L S & Lewis, C 2022, ' Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey ', Prenatal Diagnosis, vol. 42, no. 7 . https://doi.org/10.1002/pd.6159
Prenatal Diagnosis, 42(7), 934-946. John Wiley & Sons Ltd.
Buchanan, J, Hill, M, Vass, C M, Hammond, J, Riedijk, S, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Zheng, Q, Chitty, L S & Lewis, C 2022, ' Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey ', Prenatal Diagnosis, vol. 42, no. 7, pp. 934-946 . https://doi.org/10.1002/pd.6159
Prenatal Diagnosis, 42(7), 934-946. John Wiley and Sons Ltd
Buchanan, J, Hill, M, Vass, C M, Hammond, J, Riedijk, S, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Zheng, Q, Chitty, L S & Lewis, C 2022, ' Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey ', Prenatal Diagnosis, vol. 42, no. 7 . https://doi.org/10.1002/pd.6159
Prenatal Diagnosis, 42(7), 934-946. John Wiley & Sons Ltd.
Buchanan, J, Hill, M, Vass, C M, Hammond, J, Riedijk, S, Klapwijk, J E, Harding, E, Lou, S, Vogel, I, Hui, L, Ingvoldstad-Malmgren, C, Soller, M J, Ormond, K E, Choolani, M, Zheng, Q, Chitty, L S & Lewis, C 2022, ' Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey ', Prenatal Diagnosis, vol. 42, no. 7, pp. 934-946 . https://doi.org/10.1002/pd.6159
Prenatal Diagnosis, 42(7), 934-946. John Wiley and Sons Ltd
Objective We conducted a survey-based discrete-choice experiment (DCE) to understand the test features that drive women's preferences for prenatal genomic testing, and explore variation across countries. Methods Five test attributes were identified a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fab42b5bce4f79c6cad2637717c75ed9