Jon J Jonsson
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Explore the profile of Jon J Jonsson including associated specialties, affiliations and a list of published articles.
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31
Citations
1321
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Recent Articles
1.
Noren-Nystrom U, Andersen M, Barbany G, Dirse V, Eilert-Olsen M, Engvall M, et al.
Hemasphere
. 2023 May;
7(5):e883.
PMID: 37153872
No abstract available.
2.
Arnadottir G, Oddsson A, Jensson B, Gisladottir S, Simon M, Arnthorsson A, et al.
Nat Commun
. 2022 Feb;
13(1):705.
PMID: 35121750
Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of...
3.
Thorsteinsson D, Stefansdottir V, Eysteinsson T, Thorisdottir S, Jonsson J
Clin Genet
. 2021 Apr;
100(2):156-167.
PMID: 33851411
The study objective was to delineate the genetics of inherited retinal degenerations (IRDs) in Iceland, a small nation of 364.000 and a genetic isolate. Benefits include delineating novel pathogenic genetic...
4.
Peters T, Lammerts van Bueren I, Geurtz B, Coene K, de Leeuw N, Brunner H, et al.
JIMD Rep
. 2021 Mar;
58(1):114-121.
PMID: 33728254
No abstract available.
5.
Stefansdottir V, Thorolfsdottir E, Hognason H, Patch C, El C, Hentze S, et al.
Eur J Hum Genet
. 2020 Jun;
28(12):1656-1661.
PMID: 32523053
There is an increased pressure to return results from research studies. In Iceland, deCODE Genetics has emphasised the importance of returning results to research participants, particularly the founder pathogenic BRCA2...
6.
Jonsson J, Stefansdottir V
Ann Clin Biochem
. 2019 Aug;
56(6):628-629.
PMID: 31370674
No abstract available.
7.
Gudmundsson B, Thormar H, Sigurdsson A, Dankers W, Steinarsdottir M, Hermanowicz S, et al.
Nucleic Acids Res
. 2018 Jul;
46(20):e118.
PMID: 30053193
DNA damage assays have various limitations in types of lesions detected, sensitivity, specificity and samples that can be analyzed. The Northern Lights Assay (NLA) is based on 2D Strandness-Dependent Electrophoresis...
8.
Thormar H, Gunnarsson G, Gudmundsson B, Leosson K, Estibeiro P, Jonsson J
Biotechniques
. 2018 Jul;
65(1):15-19.
PMID: 30014733
We describe a system for horizontal 1D or 2D PAGE comprising an apparatus and microgels. There is no buffer outside the gel, making handling and sample loading easy. Specially designed...
9.
Stefansdottir V, Johannsson O, Skirton H, Jonsson J
J Community Genet
. 2016 Jul;
7(3):229-35.
PMID: 27372834
While pedigree drawing software is often utilised in genetic services, the use of genealogical databases in genetic counselling is unusual. This is mainly because of the unavailability of such databases...
10.
Gudbjartsson D, Helgason H, Gudjonsson S, Zink F, Oddson A, Gylfason A, et al.
Nat Genet
. 2015 Mar;
47(5):435-44.
PMID: 25807286
Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels)....