Publications by authors named "Maria Wilbe"

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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Josefin Johansson, Sarah Lidéus, Carina Frykholm, Cecilia Gunnarsson, Filip Mihalic, Maria Wilbe

Eur J Hum Genet· March 2024

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A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.
Josefin Johansson, Sarah Lidéus, Ida Höijer, Adam Ameur, Sanna Gudmundsson, Maria Wilbe

Sci Rep· August 2023

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Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
Josefin Johansson, Carina Frykholm, Katharina Ericson, Kalliopi Kazamia, Amanda Lindberg, Maria Wilbe

Am J Med Genet A· June 2022

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Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity.
Ida Höijer, Josefin Johansson, Sanna Gudmundsson, Chen-Shan Chin, Ignas Bunikis, Maria Wilbe

Genome Biol· December 2020

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TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.
Sanna Gudmundsson, Maria Wilbe, Beata Filipek-Górniok, Anna-Maja Molin, Sara Ekvall

Sci Rep· July 2019

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A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
Sanna Gudmundsson, Göran Annerén, Íñigo Marcos-Alcalde, Maria Wilbe, Malin Melin

Eur J Med Genet· June 2019

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A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.
Fabiana H G Farias, Johanna Dahlqvist, Sergey V Kozyrev, Dag Leonard, Maria Wilbe

Eur J Hum Genet· March 2019

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A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.
Eva-Lena Stattin, Josefin Johansson, Sanna Gudmundsson, Adam Ameur, Staffan Lundberg, Maria Wilbe

Am J Med Genet A· June 2018

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Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the and genes.
K Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson

Hereditas· April 2018

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A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
Maria Wilbe, Sanna Gudmundsson, Josefin Johansson, Adam Ameur, Eva-Lena Stattin

Prenat Diagn· November 2017

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Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
Sanna Gudmundsson, Maria Wilbe, Sara Ekvall, Adam Ameur, Nicola Cahill

Hum Mol Genet· March 2017

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Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
Sara Ekvall, Maria Wilbe, Jovanna Dahlgren, Eric Legius, Arie van Haeringen

BMC Med Genet· October 2015

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Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease.
Maria Wilbe, Sergey V Kozyrev, Fabiana H G Farias, Hanna D Bremer, Anna Hedlund

PLoS Genet· June 2015

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MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
Maria Wilbe, Sara Ekvall, Karin Eurenius, Katharina Ericson, Olivera Casar-Borota

J Med Genet· March 2015

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Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.
Lisa S Andersson, Maria Wilbe, Agnese Viluma, Gus Cothran, Björn Ekesten

PLoS One· July 2014

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DLA class II alleles are associated with risk for canine symmetrical lupoid onychodystrophy [corrected](SLO).
Maria Wilbe, Martine Lund Ziener, Anita Aronsson, Charlotte Harlos, Katarina Sundberg

PLoS One· August 2010

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Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex.
Maria Wilbe, Päivi Jokinen, Katarina Truvé, Eija H Seppala, Elinor K Karlsson

Nat Genet· March 2010

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MHC class II polymorphism is associated with a canine SLE-related disease complex.
Maria Wilbe, Päivi Jokinen, Christina Hermanrud, Lorna J Kennedy, Erling Strandberg

Immunogenetics· August 2009

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