Sanna Gudmundsson

9PUBLICATIONS
33CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Genome structure and regulationNeural engineeringMicroelectromechanical systems (MEMS)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (9)

|Nov 01, 2025
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.

Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton

|Jun 25, 2024
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.

Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton

|Jun 05, 2023
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

Josefin Johansson, Sarah Lidéus, Carina Frykholm

|Feb 04, 2023
Interpreting variants in genes affected by clonal hematopoiesis in population data.

Sanna Gudmundsson, Colleen M Carlston, Anne O'Donnell-Luria

|Dec 03, 2021
Variant interpretation using population databases: Lessons from gnomAD.

Sanna Gudmundsson, Moriel Singer-Berk, Nicholas A Watts

|Mar 21, 2020
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Lianne C Krab, Iñigo Marcos-Alcalde, Melissa Assaf

Pageof 2

Frequent Collaborators

4 joint publications

Anne O'Donnell-Luria

2 joint publications

Maria Wilbe

2 joint publications

Josefin Johansson

1 joint publications

Vera M Kalscheuer