Concepedia

Dmitrii Smirnov

DS

8

Publications

190

Citations

8

H-Index

2021

Active since

Affiliations

Helmholtz Zentrum München(Current)

Technical University of Munich

Paracelsus Medical University

Centre for Biomedical Network Research on Rare Diseases

Fondazione IRCCS Istituto Neurologico Carlo Besta

Dmitrii Smirnov is an author at Helmholtz Zentrum München specializing in bioinformatics, molecular diagnostics, and genomics.

ORCID

Top concepts

Publications per year

2021–2025

8

Publications

8

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Robert Kopajtich, Dmitrii Smirnov, Sarah L. Stenton et al. · 2021 · 44 citations · Full text

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Variants in Mitochondrial <scp>ATP</scp> Synthase Cause Variable Neurologic Phenotypes

Michael Zech, Robert Kopajtich, Katja Steinbrücker et al. · Annals of Neurology · 2021 · 40 citations · Full text

Genetic landscape of pediatric acute liver failure of indeterminate origin

Dominic Lenz, Lea D. Schlieben, Masaru Shimura et al. · Hepatology · 2023 · 26 citations · Full text

Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes

Dmitrii Smirnov, Lea D. Schlieben, Fatemeh Peymani et al. · Human Mutation · 2022 · 24 citations · Full text

, , +19

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

Serena J. Aleo, Valentina Del Dotto, Martina Romagnoli et al. · Cell Reports Medicine · 2024 · 21 citations · Full text

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