Kristina Lagerstedt-Robinson

15PUBLICATIONS
91CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Solid tumoursCardiovascular medicine and haematology not elsewhere classifiedMedical molecular engineering of nucleic acids and proteinsCancer genetics
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Publications (15)

|May 25, 2026
Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotation.

|Feb 11, 2026
Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.

Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt

|Dec 29, 2024
Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.

Carolina Maya-González, Teresita Díaz De Ståhl, Sandra Wessman

|Oct 21, 2024
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan

|Feb 22, 2022
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.

Chiara Rasi, Daniel Nilsson, Måns Magnusson

|Feb 04, 2022
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.

Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell

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Frequent Collaborators

6 joint publications

Anna Lindstrand

5 joint publications

Ann Nordgren

5 joint publications

Fulya Taylan

2 joint publications

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