Publikationer Marie-Louise Bondeson, Göran Annerén, Ann-Charlotte Thuresson

Publikationer i DiVA (Annerén)

Publikationer i DiVA (Bondeson)

Publikationer i DiVA (Thuresson)

Ett urval av våra publikationer:

  1. Johansson J, Lidéus S, Höijer I, Ameur A, Gudmundsson S, Annerén G, Bondeson ML, Wilbe M. A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing. Sci Rep. 2023, 13(1):12856.
  2. Johansson J, Lidéus S, Frykholm C, Gunnarsson C, Mihalic F, Gudmundsson S, Ekvall S, Molin AM, Pham M, Vihinen M, Lagerstedt-Robinson K, Nordgren A, Jemth P, Ameur A, Annerén G, Wilbe M, Bondeson ML. Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions. Eur J Hum Genet. 2023 Jun 5.
  3. Johansson J, Frykholm C, Ericson K, Kazamia K, Lindberg A, Mulaiese N, Falck G, Gustafsson PE, Lidéus S, Gudmundsson S, Ameur A, Bondeson ML, Wilbe M. Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.Am J Med Genet A. 2022, 188(6):1676-1687.
  4. Thuresson AC, Croft B, Hailer YD, Liminga G, Arvidsson CG, Harley VR, Stattin EL. A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.Clin Genet. 2021, 99(2):325-329.
  5. Höijer I, Johansson J, Gudmundsson S, Chin CS, Bunikis I, Häggqvist S, Emmanouilidou A, Wilbe M, den Hoed M, Bondeson ML, Feuk L, Gyllensten U, Ameur A. Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity. Genome Biol. 2020, 21(1):290.
  6. Gudmundsson S, Wilbe M, Filipek-Górniok B, Molin AM, Ekvall S, Johansson J, Allalou A, Gylje H, Kalscheuer VM, Ledin J, Annerén G, Bondeson ML. TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.Sci Rep. 2019, 9(1):10730.
  7. Stattin EL, Johansson J, Gudmundsson S, Ameur A, Lundberg S, Bondeson ML, Wilbe M. A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.Am J Med Genet A. 2018, 176(6):1405-1410.
  8. Wilbe M, Gudmundsson S, Johansson J, Ameur A, Stattin EL, Annerén G, Malmgren H, Frykholm C, Bondeson ML. A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders. Prenat Diagn. 2017, 37(11):1146-1154.
  9. Bondeson ML, Ericson K, Gudmundsson S, Ameur A, Pontén F, Wesström J, Frykholm C, Wilbe M.Clin Genet. A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. 2017, 92(5):510-516.
  10. Gudmundsson S, Wilbe M, Ekvall S, Ameur A, Cahill N, Alexandrov LB, Virtanen M, Hellström Pigg M, Vahlquist A, Törmä H, Bondeson ML. Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.Hum Mol Genet. 2017, 26(6):1070-1077.  


 

Senast uppdaterad: 2023-08-28
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