Maria Wilbe (M Wilbe)

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 4

Top Topics

Induced Pluripotent Stem Cells

Genome Wide Analysis

Top Venues

American journal of medical genetics. Part A

Clinical genetics

Prenatal diagnosis

This page only lists publications with an associated author ORCID identifier.

Publications

Josefin Johansson, Carina Frykholm, Katharina Ericson, Kalliopi Kazamia, Amanda Lindberg, Nancy Mulaiese, Geir Falck, Per-Erik Gustafsson, Sarah Lidéus, Sanna Gudmundsson, Adam Ameur, Marie-Louise Bondeson, Maria Wilbe
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis. American journal of medical genetics. Part A 188 (6) (2022)
Eva-Lena Stattin, Josefin Johansson, Sanna Gudmundsson, Adam Ameur, Staffan Lundberg, Marie-Louise Bondeson, Maria Wilbe
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases. American journal of medical genetics. Part A 176 (6) (2018)
M-L Bondeson, K Ericson, S Gudmundsson, A Ameur, F Pontén, J Wesström, C Frykholm, Maria Wilbe
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. Clinical genetics 92 (5) (2017)
Maria Wilbe, Sanna Gudmundsson, Josefin Johansson, Adam Ameur, Eva-Lena Stattin, Göran Annerén, Helena Malmgren, Carina Frykholm, Marie-Louise Bondeson
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders. Prenatal diagnosis 37 (11) (2017)