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Author/Creator Wilbe, Maria

1. A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders. (17th October 2017)

Authors:
Wilbe, Maria; Gudmundsson, Sanna; Johansson, Josefin; Ameur, Adam; Stattin, Eva‐Lena; Annerén, Göran; Malmgren, Helena; Frykholm, Carina; Bondeson, Marie‐Louise
Journal:
Prenatal diagnosis
Issue:
Volume 37:Number 11(2017)
Page Start:
1146
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases. Issue 6 (16th April 2018)

Authors:
Stattin, Eva‐Lena; Johansson, Josefin; Gudmundsson, Sanna; Ameur, Adam; Lundberg, Staffan; Bondeson, Marie‐Louise; Wilbe, Maria
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 6(2018)
Page Start:
1405
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis. Issue 6 (15th February 2022)

Authors:
Johansson, Josefin; Frykholm, Carina; Ericson, Katharina; Kazamia, Kalliopi; Lindberg, Amanda; Mulaiese, Nancy; Falck, Geir; Gustafsson, Per‐Erik; Lidéus, Sarah; Gudmundsson, Sanna; Ameur, Adam; Bondeson, Marie‐Louise; Wilbe, Maria
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 6(2022)
Page Start:
1676
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26. (1st February 2017)

Authors:
Gudmundsson, Sanna; Wilbe, Maria; Ekvall, Sara; Ameur, Adam; Cahill, Nicola; Alexandrov, Ludmil B.; Virtanen, Marie; Hellström Pigg, Maritta; Vahlquist, Anders; Törmä, Hans; Bondeson, Marie-Louise
Journal:
Human molecular genetics
Issue:
Volume 26:Number 6(2017:Mar. 15)
Page Start:
1070
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗