Wilbe M - Search Results

1

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.

Johansson J, Lidéus S, Höijer I, Ameur A, Gudmundsson S, Annerén G, Bondeson ML, Wilbe M. Johansson J, et al. Among authors: wilbe m. Sci Rep. 2023 Aug 8;13(1):12856. doi: 10.1038/s41598-023-34413-3. Sci Rep. 2023. PMID: 37553382 Free PMC article.

2

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.

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. Gudmundsson S, et al. Among authors: wilbe m. Sci Rep. 2019 Jul 24;9(1):10730. doi: 10.1038/s41598-019-46632-8. Sci Rep. 2019. PMID: 31341187 Free PMC article.

3

Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity.

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. Höijer I, et al. Among authors: wilbe m. Genome Biol. 2020 Dec 1;21(1):290. doi: 10.1186/s13059-020-02206-w. Genome Biol. 2020. PMID: 33261648 Free PMC article.

4

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

Wilbe M, Gudmundsson S, Johansson J, Ameur A, Stattin EL, Annerén G, Malmgren H, Frykholm C, Bondeson ML. Wilbe M, et al. Prenat Diagn. 2017 Nov;37(11):1146-1154. doi: 10.1002/pd.5156. Epub 2017 Oct 17. Prenat Diagn. 2017. PMID: 28921562 Free PMC article.

5

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.

Stattin EL, Johansson J, Gudmundsson S, Ameur A, Lundberg S, Bondeson ML, Wilbe M. Stattin EL, et al. Among authors: wilbe m. Am J Med Genet A. 2018 Jun;176(6):1405-1410. doi: 10.1002/ajmg.a.38691. Epub 2018 Apr 16. Am J Med Genet A. 2018. PMID: 29663639

6

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.

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. Johansson J, et al. Among authors: wilbe m. Am J Med Genet A. 2022 Jun;188(6):1676-1687. doi: 10.1002/ajmg.a.62685. Epub 2022 Feb 15. Am J Med Genet A. 2022. PMID: 35166435 Free PMC article.

7

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

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. Johansson J, et al. Among authors: wilbe m. Eur J Hum Genet. 2024 Mar;32(3):333-341. doi: 10.1038/s41431-023-01392-y. Epub 2023 Jun 5. Eur J Hum Genet. 2024. PMID: 37277488 Free PMC article.

8

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

Wilbe M, Ekvall S, Eurenius K, Ericson K, Casar-Borota O, Klar J, Dahl N, Ameur A, Annerén G, Bondeson ML. Wilbe M, et al. J Med Genet. 2015 Mar;52(3):195-202. doi: 10.1136/jmedgenet-2014-102730. Epub 2015 Jan 22. J Med Genet. 2015. PMID: 25612909

9

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

Ekvall S, Wilbe M, Dahlgren J, Legius E, van Haeringen A, Westphal O, Annerén G, Bondeson ML. Ekvall S, et al. Among authors: wilbe m. BMC Med Genet. 2015 Oct 14;16:95. doi: 10.1186/s12881-015-0239-1. BMC Med Genet. 2015. PMID: 26467218 Free PMC article. Review.

10

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

Gudmundsson S, Annerén G, Marcos-Alcalde Í, Wilbe M, Melin M, Gómez-Puertas P, Bondeson ML. Gudmundsson S, et al. Among authors: wilbe m. Eur J Med Genet. 2019 Jun;62(6):103526. doi: 10.1016/j.ejmg.2018.08.007. Epub 2018 Aug 17. Eur J Med Genet. 2019. PMID: 30125677 Review.

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