Sonja Karlsson-Strang

Helsinki, Finland

Last Updated: 09/26/2026

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Found 23 publications

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.

Journal: Molecular cytogenetics

Published: November 05, 2025

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

Journal: European journal of human genetics : EJHG

Published: October 14, 2025

Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendations.

Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendations.

Journal: European journal of human genetics : EJHG

Published: September 30, 2025

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study.

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study.

Journal: Journal of neuromuscular diseases

Published: February 20, 2025

Genetic counselling legislation and practice in cancer in EU Member States.

Genetic counselling legislation and practice in cancer in EU Member States.

Journal: European journal of public health

Published: June 21, 2024

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study.

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study.

Journal: Orphanet journal of rare diseases

Published: November 25, 2022

Multi-exon COL5A1 deletion in a child with classical Ehlers-Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.

Multi-exon COL5A1 deletion in a child with classical Ehlers-Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.

Journal: Clinical case reports

Published: April 13, 2022

Migraine in children and adults born preterm: A nationwide register linkage study.

Migraine in children and adults born preterm: A nationwide register linkage study.

Journal: Cephalalgia : an international journal of headache

Published: December 10, 2020

A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4.

A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4.

Journal: American journal of medical genetics. Part A

Published: November 17, 2020

Adult outcomes of being born late preterm or early term - What do we know?

Adult outcomes of being born late preterm or early term - What do we know?

Journal: Seminars in fetal & neonatal medicine

Published: November 14, 2018

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Journal: Skeletal muscle

Published: April 25, 2018

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.

Journal: Neuromuscular disorders : NMD

Published: December 21, 2017

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Last Updated: 09/26/2026