Maria Wilbe

4PUBLICATIONS
3CO-AUTHORS
Neurology and neuromuscular diseasesMicroelectromechanical systems (MEMS)Developmental genetics (incl. sex determination)Medical infection agents (incl. prions)
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Publications (4)

|Feb 15, 2022
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.

Josefin Johansson, Carina Frykholm, Katharina Ericson

|Apr 18, 2018
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.

Eva-Lena Stattin, Josefin Johansson, Sanna Gudmundsson

|Sep 19, 2017
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

Maria Wilbe, Sanna Gudmundsson, Josefin Johansson

|Mar 16, 2017
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

M-L Bondeson, K Ericson, S Gudmundsson

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Frequent Collaborators

2 joint publications

Sanna Gudmundsson

1 joint publications

Josefin Johansson

1 joint publications

Adam Ameur