Mikko Muona

Blueprint Genetics (Finland) — Finland

Biochemistry, Genetics and Molecular Biology · Life Sciences

22h-index2.3kcitations58works0.02yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(12), Migraine and Headache Studies(9), Glycogen Storage Diseases and Myoclonus(9), Cardiomyopathy and Myosin Studies(8), Genomics and Rare Diseases(8)

Publications56 total

P712: Genetic findings in over 500 individuals tested with a spastic paraplegia gene panel
Genetics in Medicine Open·2025Open Access
Postmortem Genetic Testing Following Sudden Cardiac Death Using a Cardiomyopathy and Arrhythmia Next-Generation Sequencing Panel
Heart Lung and Circulation·2024
P622: Genetic results in a cohort of 489 patients with inherited myopathies
Genetics in Medicine Open·2024Open Access
P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels
Genetics in Medicine Open·2024Open Access
P577: Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel*
Genetics in Medicine Open·2024Open Access
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients
Frontiers in Cardiovascular Medicine·2023· 17 citedOpen Access
PO-01-015 YIELD OF GENETIC TESTING AND RESULT UTILITY IN A COHORT OF 2100 DCM PATIENTS
Heart Rhythm·2023Open Access
P465: The occurrence of noncoding variants, copy number variants and variants in difficult-to-sequence genes in over 10,000 whole exome sequencing tests
Genetics in Medicine Open·2023Open Access
Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
Brain·2022· 41 citedOpen Access
Elucidating the relationship between migraine risk and brain structure using genetic data
Brain·2022· 32 citedOpen Access
GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy
Frontiers in Genetics·2021· 11 citedOpen Access
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
Brain Communications·2021· 29 citedOpen Access
Analyzing the mitochondrial genome of over 2500 patients with retinal disease
Investigative Ophthalmology & Visual Science·2021Open Access
Biallelic and <i>de novo</i> variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
2021Open Access
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates
Cell Reports·2021· 36 citedOpen Access
Biallelic NRAP variants are a significant cause of dilated cardiomyopathy
Molecular Genetics and Metabolism·2021
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
The American Journal of Human Genetics·2021· 81 citedOpen Access
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients
BMC Cardiovascular Disorders·2021· 50 citedOpen Access
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
PLoS ONE·2021· 25 citedOpen Access
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
Genetics in Medicine·2021· 18 citedOpen Access
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Frequent Co-authors

Anna‐Elina Lehesjoki(16), Juha Koskenvuo(13), Inka Saarinen(12), Terho Lehtimäki(11), Hreinn Stefánsson(11), Samuel Myllykangas(11), Padhraig Gormley(9), Verneri Anttila(9), Bendik S. Winsvold(9), Priit Palta(9), Tōnu Esko(9), Tune H. Pers(9), Kai-How Farh(9), Ester Cuenca-León(9), Tobias Kurth(9), Andrés Ingason(9), Lannie Ligthart(9), Mikko Kallela(9), Tobias Freilinger(9), Stacy Steinberg(9)