Sanna Gudmundsson
Overview
Explore the profile of Sanna Gudmundsson including associated specialties, affiliations and a list of published articles.
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19
Citations
384
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Recent Articles
1.
Gudmundsson S, Singer-Berk M, Stenton S, Goodrich J, Wilson M, Einson J, et al.
bioRxiv
. 2024 Jun;
PMID: 38915639
Incomplete penetrance, or absence of disease phenotype in an individual with a disease-associated variant, is a major challenge in variant interpretation. Studying individuals with apparent incomplete penetrance can shed light...
2.
Singer-Berk M, Gudmundsson S, Baxter S, Seaby E, England E, Wood J, et al.
Am J Hum Genet
. 2023 Aug;
110(9):1496-1508.
PMID: 37633279
Predicted loss of function (pLoF) variants are often highly deleterious and play an important role in disease biology, but many pLoF variants may not result in loss of function (LoF)....
3.
Johansson J, Lideus S, Hoijer I, Ameur A, Gudmundsson S, Anneren G, et al.
Sci Rep
. 2023 Aug;
13(1):12856.
PMID: 37553382
X-chromosome inactivation (XCI) analyses often assist in diagnostics of X-linked traits, however accurate assessment remains challenging with current methods. We developed a novel strategy using amplification-free Cas9 enrichment and Oxford...
4.
Johansson J, Lideus S, Frykholm C, Gunnarsson C, Mihalic F, Gudmundsson S, et al.
Eur J Hum Genet
. 2023 Jun;
32(3):333-341.
PMID: 37277488
RNA binding motif protein X-linked (RBMX) encodes the heterogeneous nuclear ribonucleoprotein G (hnRNP G) that regulates splicing, sister chromatid cohesion and genome stability. RBMX knock down experiments in various model...
5.
Singer-Berk M, Gudmundsson S, Baxter S, Seaby E, England E, Wood J, et al.
medRxiv
. 2023 Mar;
PMID: 36945502
Predicted loss of function (pLoF) variants are highly deleterious and play an important role in disease biology, but many of these variants may not actually result in loss-of-function. Here we...
6.
Gudmundsson S, Carlston C, ODonnell-Luria A
Hum Genet
. 2023 Feb;
143(4):545-549.
PMID: 36739343
Reference population databases like the Genome Aggregation Database (gnomAD) have improved our ability to interpret the human genome. Variant frequencies and frequency-derived tools (such as depletion scores) have become fundamental...
7.
Johansson J, Frykholm C, Ericson K, Kazamia K, Lindberg A, Mulaiese N, et al.
Am J Med Genet A
. 2022 Feb;
188(6):1676-1687.
PMID: 35166435
The Nexilin F-Actin Binding Protein (Nexilin) encoded by NEXN is a cardiac Z-disc protein important for cardiac function and development in humans, zebrafish, and mice. Heterozygote variants in the human...
8.
Gudmundsson S, Singer-Berk M, Watts N, Phu W, Goodrich J, Solomonson M, et al.
Hum Mutat
. 2021 Dec;
43(8):1012-1030.
PMID: 34859531
Reference population databases are an essential tool in variant and gene interpretation. Their use guides the identification of pathogenic variants amidst the sea of benign variation present in every human...
9.
Gudmundsson S, Karczewski K, Francioli L, Tiao G, Cummings B, Alfoldi J, et al.
Nature
. 2021 Aug;
597(7874):E3-E4.
PMID: 34373650
No abstract available.
10.
Coppens S, Barnard A, Puusepp S, Pajusalu S, Ounap K, Vargas-Franco D, et al.
Am J Hum Genet
. 2021 Jun;
108(6):1164.
PMID: 34087166
No abstract available.