Publications by authors named "Inka Saarinen"

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Comparison of missing data handling methods for variant pathogenicity predictors.
Mikko Särkkä, Sami Myöhänen, Kaloyan Marinov, Inka Saarinen, Leo Lahti

NAR Genom Bioinform· December 2025

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Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Krista Heliö, Marcos Cicerchia, Julie Hathaway, Johanna Tommiska, Johanna Huusko, Inka Saarinen

Front Cardiovasc Med· September 2023

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Opt-in for secondary findings as part of diagnostic whole-exome sequencing: Real-life experience from an international diagnostic laboratory.
Minna Brunfeldt, Milja Kaare, Inka Saarinen, Juha Koskenvuo, Helena Kääriäinen

Mol Genet Genomic Med· August 2023

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Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen

Orphanet J Rare Dis· February 2022

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Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Sari Tuupanen, Kimberly Gall, Johanna Sistonen, Inka Saarinen, Kati Kämpjärvi

Transl Vis Sci Technol· January 2022

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Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Kimberly Gall, Emanuela Izzo, Eija H Seppälä, Kirsi Alakurtti, Lotta Koskinen, Inka Saarinen

PLoS One· November 2021

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GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy.
Krista Heliö, Mikko I Mäyränpää, Inka Saarinen, Saija Ahonen, Heidi Junnila

Front Genet· November 2021

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Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen

Orphanet J Rare Dis· October 2021

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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
Juha W Koskenvuo, Inka Saarinen, Saija Ahonen, Johanna Tommiska, Sini Weckström

PLoS One· July 2021

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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Julie Hathaway, Krista Heliö, Inka Saarinen, Jonna Tallila, Eija H Seppälä

BMC Cardiovasc Disord· March 2021

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Sparse group factor analysis for biclustering of multiple data sources.
Kerstin Bunte, Eemeli Leppäaho, Inka Saarinen, Samuel Kaski

Bioinformatics· August 2016

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