Sanna Gudmundsson

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 11

Top Venues

Human genetics

bioRxiv : the preprint server for biology

American journal of medical genetics. Part A

Scientific reports

Broad Institute of MIT and Harvard

Uppsala University (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Broad Institute of MIT and Harvard Sep 01 2019

United States

Postdoctoral fellow :: The Medical and Population Genetics Unit

Massachusetts General Hospital Sep 01 2019

United States

Postdoc :: Analytic and Translational Genetic Unit

Education History

Uppsala University Jul 01 2015

Sweden

PHD :: Immunology Genetics and Pathology

Uppsala University Aug 31 2014 - Jun 03 2015

Sweden

MSC

Uppsala University Sep 01 2011 - Jul 23 2014

Sweden

BSC

Publications

Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, Julia K Goodrich, Michael W Wilson, Jonah Einson, Nicholas A Watts, null null, Tuuli Lappalainen, Heidi L Rehm, Daniel G MacArthur, Anne H O'Donnell-Luria
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. bioRxiv : the preprint server for biology (2024)
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, Julia K Goodrich, Michael W Wilson, Jonah Einson, Nicholas A Watts, null null, Tuuli Lappalainen, Heidi L Rehm, Daniel G MacArthur, Anne H O'Donnell-Luria
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. bioRxiv : the preprint server for biology (2024)
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, Julia K Goodrich, Michael W Wilson, Jonah Einson, Nicholas A Watts, null null, Tuuli Lappalainen, Heidi L Rehm, Daniel G MacArthur, Anne H O'Donnell-Luria
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. bioRxiv : the preprint server for biology (2024)
Sanna Gudmundsson, Colleen M Carlston, Anne H O'Donnell-Luria
Interpreting variants in genes affected by clonal hematopoiesis in population data. Human genetics (2023)
Sanna Gudmundsson, Colleen M Carlston, Anne H O'Donnell-Luria
Interpreting variants in genes affected by clonal hematopoiesis in population data. Human genetics (2023)
Josefin Johansson, Sarah Lidéus, Carina Frykholm, Cecilia Gunnarsson, Filip Mihalič, Sanna Gudmundsson, Sara Ekvall, Anna-Maja Molin, Mai Pham, Mauno Vihinen, Kristina Lagerstedt-Robinson, Ann Nordgren, Per Jemth, Adam Ameur, Göran Annerén, Maria Wilbe, Marie-Louise Bondeson
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions. European journal of human genetics : EJHG (2023)
Sanna Gudmundsson, Colleen M Carlston, Anne H O'Donnell-Luria
Interpreting variants in genes affected by clonal hematopoiesis in population data. Human genetics (2023)
Lianne C Krab, Íñigo Marcos-Alcalde, Melissa Assaf, Meena Balasubramanian, Janne Bayer Andersen, Anne-Marie Bisgaard, David R Fitzpatrick, Sanna Gudmundsson, Sylvia A Huisman, Tugba Kalayci, Saskia M Maas, Francisco Martinez Castellano, Margo Whiteford, Leonie A Menke, Paul A Mulder, Oliver D Murch, Michael Parker, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Jill Anne Rosenfeld, Emanuela Scarano, Marwan S Shinawi, Paulino Gómez-Puertas, Zeynep Tümer, Raoul C M Hennekam
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. Human genetics 139 (5) (2020)
Sanna Gudmundsson, Maria Wilbe, Beata Filipek-Górniok, Anna-Maja Molin, Sara Ekvall, Josefin Johansson, Amin Allalou, Hans Gylje, Vera M Kalscheuer, Johan Ledin, Göran Annerén, Marie-Louise Bondeson
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish. Scientific reports 9 (1) (2019)
Eva-Lena Stattin, Josefin Johansson, Sanna Gudmundsson, Adam Ameur, Staffan Lundberg, Marie-Louise Bondeson, Maria Wilbe
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases. American journal of medical genetics. Part A 176 (6) (2018)
Maria Wilbe, Sanna Gudmundsson, Josefin Johansson, Adam Ameur, Eva-Lena Stattin, Göran Annerén, Helena Malmgren, Carina Frykholm, Marie-Louise Bondeson
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders. Prenatal diagnosis 37 (11) (2017)

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Publication Activity (10 Years)

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Sanna Gudmundsson