Publications in DiVA – Marie-Louise Bondeson
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A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
Part of BMC Medical Genetics, 2020.
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Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
Part of Genome Biology, 2020.
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TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish
Part of Scientific Reports, 2019.
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Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
Part of Human Mutation, p. 1262-1272, 2018.
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Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
Part of Human Mutation, p. 1262-1272, 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
Part of Prenatal Diagnosis, p. 1146-1154, 2017.
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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
Part of Hereditas, 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
Part of Human Molecular Genetics, p. 1070-1077, 2017.
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1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
Part of Eur J Hum Genet, p. 787-9, 2004.
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[Mucopolysaccharidoses. New therapeutic possibilities increase the need of early diagnosis]
Part of Lakartidningen, p. 1804-9, 2002.
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Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome
Part of Human Molecular Genetics, p. 615-621, 1995.
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Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome
Part of European Journal of Human Genetics, p. 219-227, 1995.