Asbjørg Stray-Pedersen
6PUBLICATIONS
72CO-AUTHORS
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Publications (6)
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|Jul 16, 2025
The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency - a Comparative Analysis.Dharmagat Bhattarai, Aaqib Zaffar Banday, Pratap Kumar Patra
|May 16, 2025
A pathological missense mutation in the deubiquitinase USP5 leads to insensitivity to pain.Flavia T T Antunes, Maria A Gandini, Agustin Garcia-Caballero
|Aug 14, 2024
How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms.Panagiotis Baliakas, Bianca Tesi, Jörg Cammenga
|May 24, 2024
NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.Rui Chen, Elena Lukianova, Ina Schim van der Loeff
|Dec 22, 2023
Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS.Silje Hogner, Emma Lundman, Janne Strand
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Frequent Collaborators
1 joint publications
Emma Lundman
1 joint publications
Trine Tangeraas
1 joint publications
Rui Chen
1 joint publications
Elena Lukianova
1 joint publications
Ina Schim van der Loeff
1 joint publications
Jarmila Stremenova Spegarova
1 joint publications
Kieran D James
1 joint publications
Edward J Ryder
1 joint publications
Helen Griffin
1 joint publications
Akshada Gajbhiye