Kirsi J. Kiiski

Helsinki, Finland

Last Updated: 09/26/2026

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Found 20 publications

Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants.

Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants.

Journal: Journal of medical genetics

Published: October 29, 2025

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

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

Journal: medRxiv : the preprint server for health sciences

Published: January 13, 2025

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

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

Journal: European journal of human genetics : EJHG

Published: January 07, 2025

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.

Journal: Journal of neuromuscular diseases

Published: July 02, 2023

A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.

A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.

Journal: Neuromuscular disorders : NMD

Published: June 27, 2023

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

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

Journal: Genes

Published: April 07, 2022

A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype.

A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype.

Journal: Molecular genetics & genomic medicine

Published: February 04, 2022

A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region.

A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region.

Journal: PloS one

Published: April 29, 2021

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.

Journal: Neuromuscular disorders : NMD

Published: September 25, 2020

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.

Journal: Journal of neuromuscular diseases

Published: July 25, 2018

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Journal: Neuromuscular disorders : NMD

Published: July 02, 2018

Copy number variation analysis increases the diagnostic yield in muscle diseases.

Copy number variation analysis increases the diagnostic yield in muscle diseases.

Journal: Neurology. Genetics

Published: August 22, 2017

Showing 1-12 of 20

Last Updated: 09/26/2026