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Author

Maria Wilbe

Observed names: M Wilbe, M. Wilbe, Wilbe, Maria
ORCID: 0000-0003-3000-0696
Observed ORCID: 0000-0003-3000-0696
OpenAlex ID: A5082678896
Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex
2010 · Maria Wilbe, Päivi Jokinen, et al. · Nature Genetics · 142
Equine Multiple Congenital Ocular Anomalies and Silver Coat Colour Result from the Pleiotropic Effects of Mutant PMEL
2013 · Lisa S. Andersson, Maria Wilbe, et al. · PLoS ONE · 68
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Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
2020 · Ida Höijer, Josefin Johansson, et al. · Genome biology · 66
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MHC class II polymorphism is associated with a canine SLE-related disease complex
2009 · Maria Wilbe, Päivi Jokinen, et al. · Immunogenetics · 65
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)
2015 · Maria Wilbe, Sara Ekvall, et al. · Journal of Medical Genetics · 51
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish
2019 · Sanna Gudmundsson, Maria Wilbe, et al. · Scientific Reports · 48
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Increased genetic risk or protection for canine autoimmune lymphocytic thyroiditis in Giant Schnauzers depends on DLA class II genotype
2010 · M. Wilbe, K. Sundberg, et al. · Tissue Antigens · 46
A nonsense mutation in CEP55 defines a new locus for a Meckel‐like syndrome, an autosomal recessive lethal fetal ciliopathy
2017 · M.‐L. Bondeson, K. Ericson, et al. · Clinical Genetics · 43
Microphthalmia‐associated transcription factor mutations are associated with white‐spotted coat color in swamp buffalo
2015 · Y. Yusnizar, M. Wilbe, et al. · Animal Genetics · 43
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Mutation in NRAS in familial Noonan syndrome – case report and review of the literature
2015 · Sara Ekvall, Maria Wilbe, et al. · BMC Medical Genetics · 39
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DLA Class II Alleles Are Associated with Risk for Canine Symmetrical Lupoid Onychodystropy (SLO)
2010 · Maria Wilbe, Martine Lund Ziener, et al. · PLoS ONE · 33
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Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
2017 · Sanna Gudmundsson, Maria Wilbe, et al. · Human Molecular Genetics · 30
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Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease
2015 · Maria Wilbe, Sergey V. Kozyrev, et al. · PLoS Genetics · 27
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A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing
2023 · Josefin Johansson, Sarah Lidéus, et al. · Scientific Reports · 25
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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
2017 · Maria Wilbe, Sanna Gudmundsson, et al. · Prenatal Diagnosis · 25
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Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis
2022 · Josefin Johansson, Carina Frykholm, et al. · American Journal of Medical Genetics Part A · 22
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SEQscoring: a tool to facilitate the interpretation of data generated with next generation sequencing technologies
2011 · Katarina Truvé, Oscar Eriksson, et al. · EMBnet journal · 18
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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
2018 · Fabiana H. G. Farias, Johanna Dahlqvist, et al. · European Journal of Human Genetics · 17
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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
2018 · Sanna Gudmundsson, Göran Annerén, et al. · European Journal of Medical Genetics · 17
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
2023 · Josefin Johansson, Sarah Lidéus, et al. · European Journal of Human Genetics · 15
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MHC Class II is an Important Genetic Risk Factor for Canine Systemic Lupus Erythematosus (SLE)‐Related Disease: Implications for Reproductive Success
2011 · M Wilbe, G Andersson · Reproduction in Domestic Animals · 9
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases
2018 · Eva‐Lena Stattin, Josefin Johansson, et al. · American Journal of Medical Genetics Part A · 8
Correction: DLA Class II Alleles Are Associated with Risk for Canine Symmetrical Lupoid Onychodystropy (SLO)
2010 · Maria Wilbe, Martine Lund Ziener, et al. · PLoS ONE · 7
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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 WHRN and TMC1 genes
2017 · K. Sigvard Olsson, Olof Wålinder, et al. · Hereditas · 5
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Cool, cooperative and competitive – Can we breed for a temperament that promotes performance in Standardbred trotters?
2024 · Paulina Berglund, Marina Solé, et al. · Applied Animal Behaviour Science · 3
Works count: 47
Citation count: 874
H-index: 17
I10-index: 20
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