Samuel Myllykangas

Espoo, Finland

Last Updated: 09/26/2026

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Found 20 publications

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Journal: Kidney medicine
Published: January 09, 2026

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Journal: Frontiers in cardiovascular medicine
Published: July 06, 2023

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.

Journal: Translational vision science & technology
Published: January 05, 2022

Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia.

Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia.

Journal: ERJ open research
Published: October 13, 2021

GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy.

GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy.

Journal: Frontiers in genetics
Published: September 30, 2021

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.

Journal: PloS one
Published: January 08, 2021

High-resolution targeted bisulfite sequencing reveals blood cell type-specific DNA methylation patterns in IL13 and ORMDL3.

High-resolution targeted bisulfite sequencing reveals blood cell type-specific DNA methylation patterns in IL13 and ORMDL3.

Journal: Clinical epigenetics
Published: December 01, 2020

Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.

Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.

Journal: Scientific reports
Published: October 10, 2020

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

Journal: PloS one
Published: June 18, 2020

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Journal: BMC cardiovascular disorders
Published: May 24, 2020

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.

Journal: BMC medical genetics
Published: July 03, 2019

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.

Journal: Scientific reports
Published: September 27, 2018
Showing 1-12 of 20

Last Updated: 09/26/2026