Kristina Robinson-Lagerstedt
Solna, AB 17176, Sweden
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 61 publications
Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotation.
Journal: Pediatric surgery international
Published: February 05, 2026
Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1-associated epithelial recurrent erosion dystrophy.
Journal: Acta ophthalmologica
Published: December 03, 2025
Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.
Journal: American journal of medical genetics. Part A
Published: November 11, 2025
The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.
Journal: Genome medicine
Published: May 31, 2025
Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome - a matched cohort study.
Journal: British journal of cancer
Published: April 24, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Journal: Frontiers in genetics
Published: February 21, 2025
Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.
Journal: The American journal of case reports
Published: December 29, 2024
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.
Journal: European journal of human genetics : EJHG
Published: December 09, 2024
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Journal: Nature genetics
Published: October 21, 2024
An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 17, 2024
Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.
Journal: Journal of internal medicine
Published: July 08, 2024
Atypical Interference in Hb A1c Measurements Might Be Due to Mosaic Expression of Hemoglobin Variants.
Journal: Clinical chemistry
Published: February 13, 2024
Last Updated: 09/26/2026