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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)

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|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

Frequent Collaborators

2 joint publications

Sanna Gudmundsson

1 joint publications

Josefin Johansson

1 joint publications

Adam Ameur

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