Anna H. Hakonen

Helsinki, Finland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 13 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

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

Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction.

Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction.

Journal: Human molecular genetics

Published: April 22, 2024

Homozygous FANCM Variant c.5101C>T p.(Gln1701*) in a Patient With Early Onset Breast Cancer, Chemotherapy Toxicity, and Chromosome Fragility: A Case Report.

Homozygous FANCM Variant c.5101C>T p.(Gln1701*) in a Patient With Early Onset Breast Cancer, Chemotherapy Toxicity, and Chromosome Fragility: A Case Report.

Journal: Cancer reports (Hoboken, N.J.)

Published: April 19, 2024

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Journal: American journal of human genetics

Published: April 01, 2024

Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.

Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.

Journal: British journal of haematology

Published: November 18, 2023

Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia.

Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia.

Journal: Clinical genetics

Published: September 05, 2023

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.

Journal: Scientific reports

Published: March 16, 2023

COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes.

COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes.

Journal: Stroke

Published: September 02, 2021

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Journal: American journal of medical genetics. Part A

Published: February 21, 2020

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.

Journal: American journal of medical genetics. Part A

Published: February 01, 2019

Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.

Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.

Journal: EMBO molecular medicine

Published: October 31, 2018

Showing 1-12 of 13

Last Updated: 09/26/2026