Blueprint Genetics (Finland)

Recent papers from Blueprint Genetics (Finland)

1. A MORC2 Variant Associated With Severe Intellectual Disability and Unusual PhenotypeAmerican Journal of Medical Genetics Part A · 2026
2. Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curationHuman Genetics · 2026
3. Genetic Basis of Severe Childhood-Onset CardiomyopathiesJournal of the American College of Cardiology · 2018
4. Phenotypic Heterogeneity in Titinopathies with Peripheral Nerve Involvement in Pediatric Age: Two Case ReportsJournal of Clinical Medicine · 2026
5. Unveiling cellular mechanisms underlying MYZAP related dilated cardiomyopathy using patient specific hiPSC cardiomyocytesScientific Reports · 2026
6. Genetics and genotype–phenotype correlations in Finnish patients with dilated cardiomyopathyEuropean Heart Journal · 2015
7. PO12 Genetic Findings in a Cohort of Over 2,300 Individuals with Clinically Suspected Heritable Thoracic Aortic DiseaseEuropean Journal of Preventive Cardiology · 2026
8. Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective AnalysisKidney Medicine · 2025
9. Comparison of missing data handling methods for variant pathogenicity predictorsNAR Genomics and Bioinformatics · 2025
10. RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected IndividualsInvestigative Ophthalmology & Visual Science · 2025
11. Recommendations for Bioinformatics in Clinical Practice2024
12. Racial Disparities in Genetic Detection Rates for Inherited Retinal DiseasesJAMA Ophthalmology · 2024
13. A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic diseaseScience Advances · 2024
14. Phenotypes of carriers of two mutated alleles in major cancer susceptibility genesBreast Cancer Research and Treatment · 2024
15. Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variationeLife · 2024
16. Exploration of Multi-Label Classification Techniques for Modelling of Specialty Arabica Coffee Flavour Notes2024
17. Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with RHO copy number variation2024
18. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated GenesBiomolecules · 2024
19. Recessive TMOD1 mutation causes childhood cardiomyopathyCommunications Biology · 2024
20. Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variationeLife · 2023