Sanna Gudmundsson
Stockholm, AB, Sweden
Last Updated: 09/26/2026
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Found 23 publications
Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare.
Journal: Nature medicine
Published: April 04, 2025
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.
Journal: bioRxiv : the preprint server for biology
Published: June 25, 2024
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
Journal: American journal of human genetics
Published: May 10, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.
Journal: medRxiv : the preprint server for health sciences
Published: March 22, 2023
Interpreting variants in genes affected by clonal hematopoiesis in population data.
Journal: Human genetics
Published: August 29, 2022
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Journal: European journal of human genetics : EJHG
Published: July 16, 2022
A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.
A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.
Journal: Scientific reports
Published: April 12, 2022
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
Journal: American journal of medical genetics. Part A
Published: October 06, 2021
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
Journal: Nature
Published: August 10, 2021
Variant interpretation using population databases: Lessons from gnomAD.
Journal: Human mutation
Published: June 18, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Journal: American journal of human genetics
Published: June 04, 2021
Last Updated: 09/26/2026