Samuel Myllykangas

University of Helsinki — Finland

Medicine · Health Sciences

22h-index1.4kcitations78works0.32yr avg
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Research Topics

Cardiomyopathy and Myosin Studies(18), Genomic variations and chromosomal abnormalities(11), Cancer Genomics and Diagnostics(8), Genomics and Rare Diseases(7), Pulmonary Hypertension Research and Treatments(6)

Publications78 total

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis
Kidney Medicine·2025Open Access
Combined angiogenic and hypertrophic gene therapy enhances skeletal muscle growth
American Journal of Physiology-Cell Physiology·2025· 2 citedOpen Access
P712: Genetic findings in over 500 individuals tested with a spastic paraplegia gene panel
Genetics in Medicine Open·2025Open Access
Postmortem Genetic Testing Following Sudden Cardiac Death Using a Cardiomyopathy and Arrhythmia Next-Generation Sequencing Panel
Heart Lung and Circulation·2024
P622: Genetic results in a cohort of 489 patients with inherited myopathies
Genetics in Medicine Open·2024Open Access
P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels
Genetics in Medicine Open·2024Open Access
P577: Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel*
Genetics in Medicine Open·2024Open Access
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients
Frontiers in Cardiovascular Medicine·2023· 17 citedOpen Access
Genetic Findings from a Multigene Panel for Autoinflammatory Disease
Clinical Immunology·2023
PO-01-015 YIELD OF GENETIC TESTING AND RESULT UTILITY IN A COHORT OF 2100 DCM PATIENTS
Heart Rhythm·2023Open Access
P465: The occurrence of noncoding variants, copy number variants and variants in difficult-to-sequence genes in over 10,000 whole exome sequencing tests
Genetics in Medicine Open·2023Open Access
P554: A case series of 17 patients with VEXAS syndrome due to UBA1 Met41 variants
Genetics in Medicine Open·2023Open Access
P487: Genetic findings from multi-gene panel for primary ciliary dyskinesia
Genetics in Medicine Open·2023· 1 citedOpen Access
eP359: Diagnostic yield of genetic testing in an unselected cohort of patients with congenital heart disease
Genetics in Medicine·2022
eP351: Next-generation sequencing panels for cystic kidney disease with improvements for sequencing and alignment challenges
Genetics in Medicine·2022
eP398: Searching beyond the exons in nuclear genes: Diagnostic deep intronic and mitochondrial variants in patients with monogenic diabetes
Genetics in Medicine·2022Open Access
eP399: Characterizing molecular diagnostic findings from next-generation sequencing panel testing for individuals with suspected congenital hypothyroidism or resistance to thyroid hormone
Genetics in Medicine·2022Open Access
eP358: Genetic findings in a cohort of patients with pulmonary arterial hypertension referred for NGS panel testing
Genetics in Medicine·2022Open Access
Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia
ERJ Open Research·2022· 3 citedOpen Access
Genetic Testing for Pulmonary Arterial Hypertension: Diagnostic Yield and Findings From a Cohort of Patients Referred for Targeted Panel Testing
Heart Lung and Circulation·2022Open Access
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Frequent Co-authors

Juha Koskenvuo(25), Tero‐Pekka Alastalo(21), Pertteli Salmenperä(11), Tiina Heliö(10), Inka Saarinen(10), Massimiliano Gentile(9), Eija H. Seppälä(9), Sakari Knuutila(8), Mikko Muona(7), Jussi Paananen(7), Jonna Tallila(6), Julie Hathaway(6), Krista Heliö(5), Sari Tuupanen(5), Tiia Kangas‐Kontio(5), Johanna Tommiska(5), Hanlee P. Ji(5), Tom Böhling(4), Jaakko Hollmén(4), Jennifer Schleit(4)