Publications by authors named "Simone Rost"

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Updated Structure of Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics.
Martin Wendlandt, Hannes Erdmann, Simone Rost, Morghan C Lucas, Kerstin Becker

Neurol Genet· February 2025

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Undetected Neuromuscular Disease in Patients after Heart Transplantation.
Biniam Melese Bekele, Elisabetta Gazzerro, Felix Schoenrath, Volkmar Falk, Simone Rost

Int J Mol Sci· July 2024

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Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Stephanie Kleinle, Veronika Scholz, Anna Benet-Pagés, Tobias Wohlfrom, Stefanie Gehling, Simone Rost

J Neuromuscul Dis· September 2023

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Whole-Genome Sequencing Identified New Structural Variations in the Gene That Cause Duchenne Muscular Dystrophy in Two Girls.
Natalie Pluta, Arpad von Moers, Astrid Pechmann, Werner Stenzel, Hans-Hilmar Goebel, Simone Rost

Int J Mol Sci· September 2023

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Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.
Ann-Kathrin Zaum, Indrajit Nanda, Wolfram Kress, Simone Rost

Mol Genet Genomic Med· October 2022

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X-chromosomal inactivation patterns in women with Fabry disease.
Laura Wagenhäuser, Vanessa Rickert, Claudia Sommer, Christoph Wanner, Peter Nordbeck, Simone Rost

Mol Genet Genomic Med· September 2022

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Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
Natalie Pluta, Sabine Hoffjan, Frederic Zimmer, Cornelia Köhler, Thomas Lücke, Simone Rost

Genes (Basel)· September 2022

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Targeted Gene Expression Profile Reveals CDK4 as Therapeutic Target for Selected Patients With Adrenocortical Carcinoma.
Raimunde Liang, Isabel Weigand, Juliane Lippert, Stefan Kircher, Barbara Altieri, Simone Rost

Front Endocrinol (Lausanne)· May 2021

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CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM).
Anna Janz, Miriam Zink, Alexandra Cirnu, Annika Hartleb, Christina Albrecht, Simone Rost

Stem Cell Res· May 2021

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Novel Mutation in Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype.
Alexandra Cirnu, Konstantinos Kolokotronis, Katharina Walz, Anne Kilinç, Anna Janz, Simone Rost

Circ Genom Precis Med· February 2021

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Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.
Anna Janz, Ruping Chen, Martina Regensburger, Yuichiro Ueda, Simone Rost

Stem Cell Res· July 2020

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New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.
Konstantinos Kolokotronis, Natalie Pluta, Eva Klopocki, Erdmute Kunstmann, Daniel Messroghli, Simone Rost

J Clin Med· July 2020

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Exon-4 Mutations in KRAS Affect MEK/ERK and PI3K/AKT Signaling in Human Multiple Myeloma Cell Lines.
Susann Weißbach, Sofia Catalina Heredia-Guerrero, Stefanie Barnsteiner, Lukas Großhans, Jochen Bodem, Simone Rost

Cancers (Basel)· February 2020

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Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
Konstantinos Kolokotronis, Jirko Kühnisch, Eva Klopocki, Josephine Dartsch, Simone Rost

Hum Mutat· August 2019

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The identification of patient-specific mutations reveals dual pathway activation in most patients with melanoma and activated receptor tyrosine kinases in BRAF/NRAS wild-type melanomas.
Silke Appenzeller, Anja Gesierich, Alexander Thiem, Anita Hufnagel, Christina Jessen, Simone Rost

Cancer· February 2019

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Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication.
Juliane Lippert, Silke Appenzeller, Raimunde Liang, Silviu Sbiera, Stefan Kircher, Simone Rost

J Clin Endocrinol Metab· December 2018

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Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation-negative early-onset and high-risk breast cancer patients.
Julia Böck, Silke Appenzeller, Larissa Haertle, Tamara Schneider, Andrea Gehrig, Simone Rost

Int J Cancer· September 2018

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A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.
Ann-Kathrin Zaum, Konstantinos Kolokotronis, Wolfram Kress, Hans-Hilmar Goebel, Simone Rost

Neuromuscul Disord· August 2018

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Panel Sequencing Shows Recurrent Genetic FAS Alterations in Primary Cutaneous Marginal Zone Lymphoma.
Katja Maurus, Silke Appenzeller, Sabine Roth, Jochen Kuper, Simone Rost

J Invest Dermatol· July 2018

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Distribution and Structure of DM2 Repeat Tract Alleles in the German Population.
Alexis S Mahyera, Tamara Schneider, Birgit Halliger-Keller, Katja Schrooten, Eva-Maria Hörner, Simone Rost

Front Neurol· June 2018

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The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies.
Wolfram Kress, Simone Rost, Konstantin Kolokotronis, Gerhard Meng, Natalie Pluta

Neuropediatrics· August 2017

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Early and lethal neurodegeneration with myasthenic and myopathic features: A new -CDG.
David C Schorling, Simone Rost, Dirk J Lefeber, Lauren Brady, Clemens R Müller

Neurology· August 2017

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Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.
Ann-Kathrin Zaum, Burkhard Stüve, Andrea Gehrig, Heike Kölbel, Ulrike Schara, Simone Rost

Neuromuscul Disord· July 2017

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ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.
Thomas Musacchio, Ann-Kathrin Zaum, Nurcan Üçeyler, Claudia Sommer, Nora Pfeifroth, Simone Rost

J Neurol· January 2017

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Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation.
Stefanie Atsem, Juliane Reichenbach, Ramya Potabattula, Marcus Dittrich, Caroline Nava, Simone Rost

Hum Mol Genet· November 2016

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