Simone Rost - Search Results

Year	Number of Results
2002	1
2004	2
2005	2
2006	2
2009	1
2010	1
2011	2
2012	1
2013	1
2014	5
2015	3
2016	4
2017	4
2018	6
2019	2
2020	4
2021	2
2022	3
2023	2
2024	0

1

The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies.

Kress W, Rost S, Kolokotronis K, Meng G, Pluta N, Müller-Reible C. Kress W, et al. Among authors: rost s. Neuropediatrics. 2017 Aug;48(4):242-246. doi: 10.1055/s-0037-1602660. Epub 2017 May 8. Neuropediatrics. 2017. PMID: 28482373 Review. No abstract available.

2

X-chromosomal inactivation patterns in women with Fabry disease.

Wagenhäuser L, Rickert V, Sommer C, Wanner C, Nordbeck P, Rost S, Üçeyler N. Wagenhäuser L, et al. Among authors: rost s. Mol Genet Genomic Med. 2022 Sep;10(9):e2029. doi: 10.1002/mgg3.2029. Epub 2022 Aug 16. Mol Genet Genomic Med. 2022. PMID: 35971858 Free PMC article.

3

Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls.

Pluta N, von Moers A, Pechmann A, Stenzel W, Goebel HH, Atlan D, Wolf B, Nanda I, Zaum AK, Rost S. Pluta N, et al. Among authors: rost s. Int J Mol Sci. 2023 Sep 1;24(17):13567. doi: 10.3390/ijms241713567. Int J Mol Sci. 2023. PMID: 37686372 Free PMC article.

4

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.

Kleinle S, Scholz V, Benet-Pagés A, Wohlfrom T, Gehling S, Scharf F, Rost S, Prott EC, Grinzinger S, Hotter A, Haug V, Niemeier S, Wiethoff-Ubrig L, Hagenacker T, Goldhahn K, von Moers A, Walter MC, Reilich P, Eggermann K, Kraft F, Kurth I, Erdmann H, Holinski-Feder E, Neuhann T, Abicht A. Kleinle S, et al. Among authors: rost s. J Neuromuscul Dis. 2023;10(5):835-846. doi: 10.3233/JND-221668. J Neuromuscul Dis. 2023. PMID: 37424474 Free PMC article.

5

Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.

Zaum AK, Nanda I, Kress W, Rost S. Zaum AK, et al. Among authors: rost s. Mol Genet Genomic Med. 2022 Oct;10(10):e2028. doi: 10.1002/mgg3.2028. Epub 2022 Aug 1. Mol Genet Genomic Med. 2022. PMID: 35912688 Free PMC article.

6

Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.

Pluta N, Hoffjan S, Zimmer F, Köhler C, Lücke T, Mohr J, Vorgerd M, Nguyen HHP, Atlan D, Wolf B, Zaum AK, Rost S. Pluta N, et al. Among authors: rost s. Genes (Basel). 2022 Sep 28;13(10):1752. doi: 10.3390/genes13101752. Genes (Basel). 2022. PMID: 36292638 Free PMC article.

7

Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype.

Cirnu A, Kolokotronis K, Walz K, Kilinç A, Janz A, Williams T, Busch A, Rost S, Gerull B. Cirnu A, et al. Among authors: rost s. Circ Genom Precis Med. 2021 Feb;14(1):e003217. doi: 10.1161/CIRCGEN.120.003217. Epub 2021 Feb 1. Circ Genom Precis Med. 2021. PMID: 33517666 No abstract available.

8

Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication.

Lippert J, Appenzeller S, Liang R, Sbiera S, Kircher S, Altieri B, Nanda I, Weigand I, Gehrig A, Steinhauer S, Riemens RJM, Rosenwald A, Müller CR, Kroiss M, Rost S, Fassnacht M, Ronchi CL. Lippert J, et al. Among authors: rost s. J Clin Endocrinol Metab. 2018 Dec 1;103(12):4511-4523. doi: 10.1210/jc.2018-01348. J Clin Endocrinol Metab. 2018. PMID: 30113656

9

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.

Kolokotronis K, Kühnisch J, Klopocki E, Dartsch J, Rost S, Huculak C, Mearini G, Störk S, Carrier L, Klaassen S, Gerull B. Kolokotronis K, et al. Among authors: rost s. Hum Mutat. 2019 Aug;40(8):1101-1114. doi: 10.1002/humu.23757. Epub 2019 Apr 24. Hum Mutat. 2019. PMID: 30924982

10

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).

Janz A, Zink M, Cirnu A, Hartleb A, Albrecht C, Rost S, Klopocki E, Günther K, Edenhofer F, Ergün S, Gerull B. Janz A, et al. Among authors: rost s. Stem Cell Res. 2021 May;53:102256. doi: 10.1016/j.scr.2021.102256. Epub 2021 Feb 18. Stem Cell Res. 2021. PMID: 33640690 Free article.

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