Sari Tuupanen

Espoo, Finland

Last Updated: 09/26/2026

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Found 31 publications

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.

Journal: Investigative ophthalmology & visual science

Published: September 23, 2025

Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases.

Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases.

Journal: JAMA ophthalmology

Published: November 07, 2024

A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.

A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.

Journal: Ophthalmic genetics

Published: March 04, 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

Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction.

Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction.

Journal: Frontiers in pediatrics

Published: August 20, 2020

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: June 22, 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

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.

Journal: European journal of medical genetics

Published: May 13, 2020

Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy.

Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy.

Journal: European journal of human genetics : EJHG

Published: February 05, 2020

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.

Journal: EMBO molecular medicine

Published: August 16, 2018

Contribution of allelic imbalance to colorectal cancer.

Contribution of allelic imbalance to colorectal cancer.

Journal: Nature communications

Published: October 03, 2017

Showing 1-12 of 31

Last Updated: 09/26/2026