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List of works by Sanna Gudmundsson

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

scientific article published on 14 March 2017

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

scientific article published on 16 April 2018

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature

scientific article published on 17 August 2018

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

scientific article published on 16 September 2017

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

scientific article published on 19 March 2020

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.

scientific article

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

scientific article published on 24 July 2019

Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease

scientific article

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