Peter Sparber

Noncompaction cardiomyopathy is caused by a novel in‐frame desmin ( <i>DES</i> ) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect

Andrey V. Marakhonov, Andreas Brodehl, R. P. Myasnikov et al. · Human Mutation · 2019 · 36 citations

Cardiac Muscle, Heart Failure, Genetics +18

Deciphering the impact of coding and non-coding <i>SCN1A</i> gene variants on RNA splicing

Peter Sparber, Margarita Sharova, Kseniya Davydenko et al. · Brain · 2023 · 18 citations

<scp><i>GABRA1</i></scp>‐Related Disorders: From Genetic to Functional Pathways

Elisa Musto, Vivian W. Y. Liao, Katrine M. Johannesen et al. · Annals of Neurology · 2023 · 16 citations · Full text

Genetic and Clinical Spectrum of GNE Myopathy in Russia

Aysylu Murtazina, G. E. Rudenskaya, Artem Borovikov et al. · Genes · 2022 · 14 citations · Full text

<i>De novo</i> missense variants in FBXO11 alter its protein expression and subcellular localization

Anne Gregor, Tanja Meerbrei, Thorsten Gerstner et al. · Human Molecular Genetics · 2021 · 13 citations · Full text

Fbxo11 Missense Variants, Genetics, Subcellular Localization +17