Maria K. Haanpaa

Turku, Finland

Last Updated: 09/26/2026

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Found 33 publications

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

Journal: European journal of human genetics : EJHG
Published: February 21, 2026

At the extreme limits of L-DOPA therapy: probable dopamine dysregulation and psychiatric complications in Parkinson's disease.

At the extreme limits of L-DOPA therapy: probable dopamine dysregulation and psychiatric complications in Parkinson's disease.

Journal: BMJ neurology open
Published: December 03, 2025

Hereditary cancer: Germline testing practices across ERN GENTURIS member countries.

Hereditary cancer: Germline testing practices across ERN GENTURIS member countries.

Journal: European journal of human genetics : EJHG
Published: October 31, 2025

Prenatal Isolated Congenital Diaphragmatic Hernia: A Rare Clinical Presentation of a GATA4 Pathogenic Variant.

Prenatal Isolated Congenital Diaphragmatic Hernia: A Rare Clinical Presentation of a GATA4 Pathogenic Variant.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: October 16, 2025

Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals.

Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals.

Journal: Pediatric neurology
Published: October 31, 2024

Recommendations for bioinformatics in clinical practice.

Recommendations for bioinformatics in clinical practice.

Journal: Genome medicine
Published: October 16, 2024

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.

Journal: American journal of medical genetics. Part A
Published: September 25, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Journal: medRxiv : the preprint server for health sciences
Published: January 31, 2024

Comparison of the ABC and ACMG systems for variant classification.

Comparison of the ABC and ACMG systems for variant classification.

Journal: European journal of human genetics : EJHG
Published: December 19, 2023

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Journal: Genome medicine
Published: December 12, 2023

Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.

Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: November 19, 2023

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.

Journal: American journal of medical genetics. Part A
Published: October 16, 2023
Showing 1-12 of 33

Last Updated: 09/26/2026