Katarina Pelin

6PUBLICATIONS
45CO-AUTHORS
Structural properties of condensed matterNeurology and neuromuscular diseasesPredictive and prognostic markersCell and nuclear division
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Publications (6)

|Nov 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic features.

Milla Laarne, Manu Jokela, Fang Zhao

|Jun 14, 2025
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu

|Jun 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.

Justyne E Ross, May Flowers, Shannon McNulty

|May 21, 2025
A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.

Milla Laarne, Ali Oghabian, Jenni Laitila

|Jan 13, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu

|May 28, 2022
Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region.

Lydia Sagath, Vilma-Lotta Lehtokari, Katarina Pelin

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Frequent Collaborators

5 joint publications

Vilma-Lotta Lehtokari

4 joint publications

Lydia Sagath

4 joint publications

Milla Laarne

3 joint publications

Kirsi Kiiski