Inka Saarinen

Espoo, Finland

Last Updated: 09/26/2026

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Found 13 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

Comparison of missing data handling methods for variant pathogenicity predictors.

Comparison of missing data handling methods for variant pathogenicity predictors.

Journal: NAR genomics and bioinformatics

Published: March 25, 2025

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

Opt-in for secondary findings as part of diagnostic whole-exome sequencing: Real-life experience from an international diagnostic laboratory.

Opt-in for secondary findings as part of diagnostic whole-exome sequencing: Real-life experience from an international diagnostic laboratory.

Journal: Molecular genetics & genomic medicine

Published: August 08, 2022

Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Journal: Orphanet journal of rare diseases

Published: February 18, 2022

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

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

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Journal: Orphanet journal of rare diseases

Published: July 16, 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

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

Systematic review of hospital-wide complication registries.

Systematic review of hospital-wide complication registries.

Journal: BJS open

Published: April 02, 2018

Showing 1-12 of 13

Last Updated: 09/26/2026