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S. Rost · SciRah

Researcher profile · Semantic Scholar

S. Rost

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S. Rost — researcher profile on SciRah

h-index: 24
Works: 89
Citations: 3,592

Most-cited papers

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2
S. Rost, A. Fregin, V. Ivaškevičius, E. Conzelmann +9 more
2004Nature1,187 citations
Semantic Scholar
The Genetic Basis of Resistance to Anticoagulants in Rodents
H. Pelz, S. Rost, M. Hünerberg, A. Fregin +7 more
2005Genetics334 citations
Semantic Scholar
Novel mutations in the VKORC1 gene of wild rats and mice – a response to 50 years of selection pressure by warfarin?
S. Rost, H. Pelz, S. Menzel, A. Macnicoll +5 more
2009BMC Genetics162 citations Open access
Semantic Scholar
Interethnic variability of warfarin maintenance requirement is explained by VKORC1 genotype in an Asian population
Soo-Chin Lee, S. Ng, J. Oldenburg, Pei-Yi Chong +9 more
2006Clinical pharmacology and therapy161 citations
Semantic Scholar
VKORC1: molecular target of coumarins
J. Oldenburg, M. Watzka, S. Rost, C. Müller
2007Journal of Thrombosis and Haemostasis134 citations Open access
Semantic Scholar
Congenital Deficiency of Vitamin K Dependent Coagulation Factors in Two Families Presents as a Genetic Defect of the Vitamin K-Epoxide-Reductase-Complex
J. Oldenburg, B. von Brederlow, A. Fregin, S. Rost +11 more
2000Thrombosis and Haemostasis111 citations
Semantic Scholar
Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment
M. Watzka, C. Geisen, C. Bevans, Katja Sittinger +5 more
2011Journal of Thrombosis and Haemostasis105 citations Open access
Semantic Scholar
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
Mirjam Larsen, S. Rost, N. El Hajj, A. Ferbert +6 more
2014European Journal of Human Genetics102 citations Open access
Semantic Scholar
Site-directed mutagenesis of coumarin-type anticoagulant-sensitive VKORC1
S. Rost, A. Fregin, M. Hünerberg, C. Bevans +2 more
2005Thrombosis and Haemostasis99 citations
Semantic Scholar
Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication
Juliane Lippert, S. Appenzeller, Raimunde Liang, S. Sbiera +13 more
2018Journal of Clinical Endocrinology and Metabolism97 citations Open access
Semantic Scholar
Evaluation of DHPLC in the analysis of hemophilia A.
J. Oldenburg, V. Ivaškevičius, S. Rost, A. Fregin +4 more
2001Journal of Biochemical and Biophysical Methods94 citations
Semantic Scholar
Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16.
A. Fregin, S. Rost, W. Wolz, A. Krebsova +2 more
2002Blood80 citations Open access
Semantic Scholar
Compound heterozygous mutations in the γ‐glutamyl carboxylase gene cause combined deficiency of all vitamin K‐dependent blood coagulation factors
S. Rost, A. Fregin, D. Koch, M. Compés +2 more
2004British Journal of Haematology77 citations
Semantic Scholar
Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation
Stefanie Atsem, Juliane Reichenbach, R. Potabattula, M. Dittrich +8 more
2016Human Molecular Genetics75 citations Open access
Semantic Scholar
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6
S. Rost, E. Bach, Cordula Neuner, I. Nanda +8 more
2013European Journal of Human Genetics66 citations Open access
Semantic Scholar
Panel Sequencing Shows Recurrent Genetic FAS Alterations in Primary Cutaneous Marginal Zone Lymphoma.
K. Maurus, S. Appenzeller, S. Roth, J. Kuper +7 more
2018Journal of Investigative Dermatology52 citations Open access
Semantic Scholar
Distribution and frequency of VKORC1 sequence variants conferring resistance to anticoagulants in Mus musculus.
H. Pelz, S. Rost, E. Müller, A. Esther +2 more
2012Pest Management Science40 citations Open access
Semantic Scholar
Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data
V. Ivaškevičius, R. Jurgutis, S. Rost, A. Müller +6 more
2001British Journal of Haematology36 citations Open access
Semantic Scholar
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype
K. Kolokotronis, Jirko Kühnisch, E. Klopocki, J. Dartsch +7 more
2019Human Mutation35 citations
Semantic Scholar
Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene
E. Bach, Beat Wolf, J. Oldenburg, C. Müller +1 more
2015Thrombosis and Haemostasis33 citations
Semantic Scholar
Distribution and frequency of VKORC1 sequence variants conferring resistance to anticoagulants in Mus musculus
H. Pelz, S. Rost, E. Müller, A. Esther +2 more
201133 citations
Semantic Scholar
Comparative genetics of warfarin resistance
J. Oldenburg, C. Müller, S. Rost, M. Watzka +1 more
2013Hämostaseologie30 citations
Semantic Scholar
X‐chromosomal inactivation patterns in women with Fabry disease
Laura Wagenhäuser, V. Rickert, C. Sommer, C. Wanner +3 more
2022Molecular Genetics & Genomic Medicine25 citations Open access
Semantic Scholar
Targeted Gene Expression Profile Reveals CDK4 as Therapeutic Target for Selected Patients With Adrenocortical Carcinoma
Raimunde Liang, I. Weigand, Juliane Lippert, S. Kircher +9 more
2020Frontiers in Endocrinology25 citations Open access
Semantic Scholar
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.
Ann-Kathrin Zaum, B. Stüve, A. Gehrig, H. Kölbel +3 more
2017Neuromuscular Disorders24 citations
Semantic Scholar
Early and lethal neurodegeneration with myasthenic and myopathic features
D. Schorling, S. Rost, D. Lefeber, L. Brady +10 more
2017Neurology23 citations Open access
Semantic Scholar
Identification of VKORC1 interaction partners by split-ubiquitin system and coimmunoprecipitation
Anne Schaafhausen, S. Rost, J. Oldenburg, C. Müller
2010Thrombosis and Haemostasis22 citations Open access
Semantic Scholar
Novel recessive myotilin mutation causes severe myofibrillar myopathy
J. Schessl, E. Bach, S. Rost, S. Feldkirchner +5 more
2014Neurogenetics21 citations
Semantic Scholar
Confirmation of warfarin resistance of naturally occurring VKORC1 variants by coexpression with coagulation factor IX and in silico protein modelling
E. Müller, Alexander Keller, A. Fregin, C. Müller +1 more
2014BMC Genetics21 citations Open access
Semantic Scholar
Distribution and Structure of DM2 Repeat Tract Alleles in the German Population
A. Mahyera, T. Schneider, B. Halliger-Keller, Katja Schrooten +3 more
2018Frontiers in Neurology20 citations Open access
Semantic Scholar
The Arg98Trp mutation in human VKORC1 causing VKCFD2 disrupts a di-arginine-based ER retention motif.
K. Czogalla, A. Biswas, S. Rost, M. Watzka +1 more
2014Blood20 citations
Semantic Scholar
Haemophilia A
V. Ivaškevičius, S. Rost, F. Herrmann, W. Effenberger +3 more
200020 citations
Semantic Scholar
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
S. Appenzeller, A. Gesierich, A. Thiem, A. Hufnagel +19 more
2019Cancer19 citations Open access
Semantic Scholar
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, S. Appenzeller, Larissa Haertle, T. Schneider +7 more
2018International Journal of Cancer19 citations Open access
Semantic Scholar
Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1
S. Rost, C. Geisen, A. Fregin, E. Seifried +2 more
2006Blood Coagulation and Fibrinolysis19 citations
Semantic Scholar
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia
T. Musacchio, Ann-Kathrin Zaum, N. Üçeyler, C. Sommer +6 more
2016Journal of Neurology18 citations
Semantic Scholar
Next‐generation DNA sequencing of a Swedish malignant hyperthermia cohort
M. Broman, I. Kleinschnitz, J. Bach, S. Rost +2 more
2015Clinical Genetics18 citations
Semantic Scholar
Exon-4 Mutations in KRAS Affect MEK/ERK and PI3K/AKT Signaling in Human Multiple Myeloma Cell Lines
S. Weissbach, Sofia Catalina Heredia-Guerrero, Stefanie Barnsteiner, Lukas Großhans +12 more
2020Cancers17 citations Open access
Semantic Scholar
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing
Ann-Kathrin Zaum, I. Nanda, W. Kress, S. Rost
2022Molecular Genetics & Genomic Medicine15 citations Open access
Semantic Scholar
DNA-based field monitoring of warfarin resistance in rats (Rattus norvegicus)
H. Pelz, S. Rost, C. Müller
200715 citations
Semantic Scholar
The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies
W. Kress, S. Rost, K. Kolokotronis, G. Meng +2 more
2017Neuropediatrics14 citations
Semantic Scholar
Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation.
Stefanie Atsem, Juliane Reichenbach, R. Potabattula, M. Dittrich +8 more
2016Human Molecular Genetics10 citations
Semantic Scholar
Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype.
A. Cirnu, K. Kolokotronis, Katharina Walz, A. Kilinç +5 more
2021Circulation Genomic and Precision Medicine9 citations
Semantic Scholar
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis
K. Kolokotronis, Natalie Pluta, E. Klopocki, E. Kunstmann +6 more
2020Journal of Clinical Medicine8 citations Open access
Semantic Scholar
Mini-gene assays confirm the splicing effect of deep intronic variants in the factor VIII gene
J. Bach, C. Müller, S. Rost
2015Thrombosis and Haemostasis7 citations
Semantic Scholar
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, Ru-Ping Chen, Martina Regensburger, Y. Ueda +7 more
2020Stem Cell Research6 citations Open access
Semantic Scholar
Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype
Mirjam Larsen, W. Kress, B. Schoser, U. Hehr +2 more
2016European Journal of Human Genetics5 citations Open access
Semantic Scholar
Expression studies of mutant factor VIII alleles with premature termination codons with regard to inhibitor formation
M. Zimmermann, J. Oldenburg, C. Müller, S. Rost
2014Haemophilia5 citations
Semantic Scholar
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, S. Hoffjan, F. Zimmer, C. Köhler +8 more
2022Genes4 citations Open access
Semantic Scholar
Targeted molecular analysis in adrenocortical carcinomas: a strategy towards improved personalized prognostication
Juliane Lippert, S. Appenzeller, Raimunde Liang, S. Sbiera +9 more
2018Endocrine Abstracts4 citations Open access
Semantic Scholar

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J. Oldenburg×18
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A. Fregin×9
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W. Kress×7
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V. Ivaškevičius×4

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M. Watzka — researcher profile on SciRah

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A. Gehrig — researcher profile on SciRah

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