Publications by authors named "Maria Soller"

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Self-assessed knowledge of genomic medicine among non-genetics physicians - results from a nationwide Swedish survey.
Joar Björk, Mikaela Friedman, Amy Nisselle, Maria Johansson Soller, Charlotta Ingvoldstad Malmgren

J Community Genet· December 2025

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Midwives 'views of parents' questions and expectations on prenatal genetic testing - identifying informational needs in prenatal genetic counselling.
Lisa Åkerman, Maria Johansson Soller, Charlotta Ingvoldstad Malmgren

J Community Genet· December 2025

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Implementing electronic informed consent in rare disease genomics.
Katja Ekholm, Annelie Augustinsson, Johan Sundström, Christian Johansen, Maria Storgärds, Maria Johansson Soller

Sci Rep· December 2025

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Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome - a matched cohort study.
Anna Skarin Nordenvall, Fredrik Persson, Anna Martling, Magnus Nordenskjöld, Maria Johansson Soller

Br J Cancer· November 2025

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Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.
Marlene Ek, Malin Kvarnung, Maria Pettersson, Maria Johansson Soller, Britt-Marie Anderlid

Sci Rep· December 2024

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Malignant hyperthermia safety - A nationwide survey of publicly funded Swedish healthcare.
Anna Hellblom, William Pettersson Miller, Maria Soller, Carolina Samuelsson

Acta Anaesthesiol Scand· July 2024

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Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study.
Kati Koido, Charlotta Ingvoldstad Malmgren, Lejla Pojskic, Peter Z Almos, Sarah E Bergen, Maria Johansson Soller

Eur J Med Genet· August 2023

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

Sci Rep· April 2023

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Implementing precision medicine in a regionally organized healthcare system in Sweden.
Thoas Fioretos, Valtteri Wirta, Lucia Cavelier, Eva Berglund, Mikaela Friedman, Maria Johansson Soller

Nat Med· October 2022

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Factors that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey.
James Buchanan, Melissa Hill, Caroline M Vass, Jennifer Hammond, Sam Riedijk, Maria Johansson Soller

Prenat Diagn· June 2022

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Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design.
Jennifer Hammond, Jasmijn E Klapwijk, Sam Riedijk, Stina Lou, Kelly E Ormond, Maria Johansson Soller

PLoS One· February 2022

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DLG4-related synaptopathy: a new rare brain disorder.
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, Kimberly A Aldinger, Íñigo Marcos-Alcalde, Maria Johansson Soller

Genet Med· May 2021

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Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals.
Celine Lewis, Jennifer Hammond, Jasmijn E Klapwijk, Eleanor Harding, Stina Lou, Maria J Soller

Prenat Diagn· May 2021

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Maria Johansson Soller

Genome Med· March 2021

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Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.
Andreea Ilinca, Nicolas Martinez-Majander, Sofie Samuelsson, Paul Piccinelli, Katarina Truvé, Maria Soller

Stroke· April 2020

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Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study.
Andreas Puschmann, Itzia Jiménez-Ferrer, Elin Lundblad-Andersson, Emma Mårtensson, Oskar Hansson, Maria Soller

Parkinsonism Relat Disord· September 2019

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A stroke gene panel for whole-exome sequencing.
Andreea Ilinca, Sofie Samuelsson, Paul Piccinelli, Maria Soller, Ulf Kristoffersson

Eur J Hum Genet· February 2019

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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Maria Soller

Hum Genet· April 2017

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Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Maria Soller

Orphanet J Rare Dis· April 2017

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No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Gynecol Oncol· May 2016

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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
Wybo Dondorp, Guido de Wert, Yvonne Bombard, Diana W Bianchi, Carsten Bergmann, Maria Soller

Eur J Hum Genet· November 2015

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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
Wybo Dondorp, Guido de Wert, Yvonne Bombard, Diana W Bianchi, Carsten Bergmann, Maria Soller

Eur J Hum Genet· November 2015

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The gynecological surveillance of women with Lynch syndrome in Sweden.
Gerasimos Tzortzatos, Emil Andersson, Maria Soller, Marie Stenmark Askmalm, Theofanis Zagoras

Gynecol Oncol· September 2015

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No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
Matthieu J Schlögel, Antonella Mendola, Elodie Fastré, Pradeep Vasudevan, Koen Devriendt, Maria Soller

Orphanet J Rare Dis· May 2015

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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
Wybo Dondorp, Guido de Wert, Yvonne Bombard, Diana W Bianchi, Carsten Bergmann, Maria Soller

Eur J Hum Genet· April 2015

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