Jon J. Jonsson
Reykjavik, Iceland
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 26 publications
Splenic hamartoma in two related patients with BAP1 tumour predisposition syndrome caused by a novel germline BAP1 p.(Gly128Arg) missense variant.
Journal: Familial cancer
Published: October 24, 2025
The Epidemiology of Huntington's Disease in Iceland.
Journal: European neurology
Published: July 26, 2024
Molecular Pathology of Myotonic Dystrophy Type 1 in Iceland.
Journal: Molecular genetics & genomic medicine
Published: October 01, 2023
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.
Journal: European journal of human genetics : EJHG
Published: September 20, 2022
Increased use of genetic health care in Iceland 2012-2017
Journal: Laeknabladid
Published: December 20, 2021
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Journal: Nature communications
Published: August 25, 2021
Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants.
Journal: JIMD reports
Published: December 08, 2020
Molecular genetics of inherited retinal degenerations in Icelandic patients.
Journal: Clinical genetics
Published: November 29, 2020
Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland.
Journal: European journal of human genetics : EJHG
Published: November 12, 2019
Last Updated: 09/26/2026