K. Heliö

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

M. Gentile, T. Heliö, S. Tuupanen, 2021, BMC Cardiovascular Disorders.

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

T. Heliö, S. Myllykangas, J. Koskenvuo, 2020, BMC Medical Genetics.

A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign

T. Heliö, K. Kettunen, A. Ranki, 2022, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

T. Ojala, M. Gentile, S. Ahonen, 2021, PloS one.

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

K. Nikus, M. Gentile, S. Ahonen, 2021, Frontiers in Genetics.

DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma

T. Heliö, J. Koskenvuo, M. Holmström, 2023, Frontiers in Cardiovascular Medicine.