List of works - Stephan Ossowski

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

scientific article published on 10 March 2017

A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx

scientific journal article

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis.

scientific article

A genomic-scale artificial microRNA library as a tool to investigate the functionally redundant gene space in Arabidopsis.

scientific article

A shift from magnitude to sign epistasis during adaptive evolution of a bacterial social trait

scientific article published on 15 July 2014

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing

scientific article

Allele balance bias identifies systematic genotyping errors and false disease associations

article

Analysis of a long-term outbreak of XDR Pseudomonas aeruginosa: a molecular epidemiological study

scientific article

Arabidopsis thaliana leaf form evolved via loss of KNOX expression in leaves in association with a selective sweep

scientific article published on 2 December 2010

Artificial microRNAs for specific gene silencing in rice

scientific article published in January 2013

Bayesian Inference Of Cancer Driver Genes Using Signatures Of Positive Selection

article

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

scientific article published on 14 March 2019

Chromatin-wide profiling of DYRK1A reveals a role as a gene-specific RNA polymerase II CTD kinase.

scientific article

Chromosome-level assembly of Arabidopsis thaliana Ler reveals the extent of translocation and inversion polymorphisms

scientific article published on 27 June 2016

Circulating cell-free DNA: A potential biomarker to differentiate inflammation and infection during radiochemotherapy

scientific article published on 07 August 2018

Common sequence polymorphisms shaping genetic diversity in Arabidopsis thaliana

scientific article

Comparative transcriptomics reveals patterns of selection in domesticated and wild tomato

scientific article published on 26 June 2013

Complementation contributes to transcriptome complexity in maize (Zea mays L.) hybrids relative to their inbred parents

scientific article

Correction: PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data.

scientific article published on 6 November 2013

Deep sequencing to reveal new variants in pooled DNA samples

scientific article published in December 2009

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing

scientific article

Directed Gene Silencing with Artificial MicroRNAs

article

Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients

scientific article published on 20 August 2020

Does Hospitalist Directed Care for Acute Ischemic Stroke Patients Improve Adherence to "Get with the Guidelines"?

scientific article published on October 2016

Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.

scientific article published on 28 July 2013

Fitness of Arabidopsis thaliana mutation accumulation lines whose spontaneous mutations are known

scientific article published on 21 February 2012

Gene silencing in plants using artificial microRNAs and other small RNAs

scientific article published on February 2008

Genome-wide comparison of nucleotide-binding site-leucine-rich repeat-encoding genes in Arabidopsis ⬇️

scientific article published on 2 August 2011

Genomic characterisation of clinical and environmental Pseudomonas putida group strains and determination of their role in the transfer of antimicrobial resistance genes to Pseudomonas aeruginosa.

scientific article published on 10 November 2017

Highly specific gene silencing by artificial miRNAs in rice

scientific article

Highly specific gene silencing by artificial microRNAs in Arabidopsis

scientific article published on 10 March 2006

Highly specific gene silencing by artificial microRNAs in the unicellular alga Chlamydomonas reinhardtii.

scientific article published on 19 January 2009

Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome

scientific article published on 30 March 2016

Identification of a spontaneous frame shift mutation in a nonreference Arabidopsis accession using whole genome sequencing

scientific article published on 13 April 2010

Impaired sterol ester synthesis alters the response of Arabidopsis thaliana to Phytophthora infestans

scientific article

Jitterbug: somatic and germline transposon insertion detection at single-nucleotide resolution.

scientific article published on 12 October 2015

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

scientific article

LOCAS--a low coverage assembly tool for resequencing projects

scientific article

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

scientific article published on 16 October 2018

MDM2, MDM4 and EGFR Amplifications and Hyperprogression in Metastatic Acral and Mucosal Melanoma

scientific article published on 26 February 2020

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

scientific article

Mutations in DCHS1 cause mitral valve prolapse

scientific journal article

Negative selection in tumor genome evolution acts on essential cellular functions and the immunopeptidome.

scientific article published on 31 May 2018

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.

scientific article

Optimal spliced alignments of short sequence reads

scientific article

Optimal spliced alignments of short sequence reads

PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data

scientific article

Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D

scientific article published on 23 May 2019

Recombination and linkage disequilibrium in Arabidopsis thaliana.

scientific article

Reference-guided assembly of four diverse Arabidopsis thaliana genomes

scientific article

Relationship between genome and epigenome--challenges and requirements for future research

scientific article published on 18 June 2014

SHOREmap: simultaneous mapping and mutation identification by deep sequencing

Selective epigenetic control of retrotransposition in Arabidopsis

scientific article published on 6 September 2009

Sequencing of natural strains of Arabidopsis thaliana with short reads

scientific article published on 25 September 2008

Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes

scientific article published on 13 October 2017

Simultaneous alignment of short reads against multiple genomes

scientific article published on 17 September 2009

Species-wide genetic incompatibility analysis identifies immune genes as hot spots of deleterious epistasis

scientific article

Specific gene silencing by artificial MicroRNAs in Physcomitrella patens: an alternative to targeted gene knockouts

scientific article

Spinal Cord Transcriptomic and Metabolomic Analysis after Excitotoxic Injection Injury Model of Syringomyelia.

scientific article published on 13 October 2016

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.

scientific article published on 24 April 2013

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.

scientific article published in March 2015

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

scientific article published on 20 July 2017

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

scientific article

Text similarity: an alternative way to search MEDLINE

scientific article

The Arabidopsis lyrata genome sequence and the basis of rapid genome size change

scientific article

The cis-regulatory code of Hox function in Drosophila.

scientific article published on 10 July 2012

The cis-regulatory code of Hox function in Drosophila.

scientific article published in November 2015

The genomic landscape of meiotic crossovers and gene conversions in Arabidopsis thaliana

scientific article published on 17 December 2013

The rate and molecular spectrum of spontaneous mutations in Arabidopsis thaliana

scientific article

The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues

scientific article published on 27 May 2020

Tissue-specific DNA methylation loss during ageing and carcinogenesis is linked to chromosome structure, replication timing and cell division rates

scientific article published on 01 August 2018

Tracking of Antibiotic Resistance Transfer and Rapid Plasmid Evolution in a Hospital Setting by Nanopore Sequencing

scientific article published on 19 August 2020

Transcriptional control of gene expression by microRNAs

scientific article

WES in nonprogressive congenital ataxia: Diagnostic yield and identification of novel loci

Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders

scientific article

Whole genome sequencing enabled the detection of a colistin-resistant hypermutating citrobacter werkmanii strain harbouring a novel metallo-beta-lactamase VIM-48.

scientific article published on 2 February 2018

Whole-genome sequencing of multiple Arabidopsis thaliana populations

scientific article published on 28 August 2011

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics

scientific article published on 21 May 2019

List of works by Stephan Ossowski

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis.

A genomic-scale artificial microRNA library as a tool to investigate the functionally redundant gene space in Arabidopsis.

A shift from magnitude to sign epistasis during adaptive evolution of a bacterial social trait

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing

Allele balance bias identifies systematic genotyping errors and false disease associations

Analysis of a long-term outbreak of XDR Pseudomonas aeruginosa: a molecular epidemiological study

Arabidopsis thaliana leaf form evolved via loss of KNOX expression in leaves in association with a selective sweep

Artificial microRNAs for specific gene silencing in rice

Bayesian Inference Of Cancer Driver Genes Using Signatures Of Positive Selection

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

Chromatin-wide profiling of DYRK1A reveals a role as a gene-specific RNA polymerase II CTD kinase.

Chromosome-level assembly of Arabidopsis thaliana Ler reveals the extent of translocation and inversion polymorphisms

Circulating cell-free DNA: A potential biomarker to differentiate inflammation and infection during radiochemotherapy

Common sequence polymorphisms shaping genetic diversity in Arabidopsis thaliana

Comparative transcriptomics reveals patterns of selection in domesticated and wild tomato

Complementation contributes to transcriptome complexity in maize (Zea mays L.) hybrids relative to their inbred parents

Correction: PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data.

Deep sequencing to reveal new variants in pooled DNA samples

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing

Directed Gene Silencing with Artificial MicroRNAs

Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients

Does Hospitalist Directed Care for Acute Ischemic Stroke Patients Improve Adherence to "Get with the Guidelines"?

Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.

Fitness of Arabidopsis thaliana mutation accumulation lines whose spontaneous mutations are known

Gene silencing in plants using artificial microRNAs and other small RNAs

Genome-wide comparison of nucleotide-binding site-leucine-rich repeat-encoding genes in Arabidopsis ⬇️

Genomic characterisation of clinical and environmental Pseudomonas putida group strains and determination of their role in the transfer of antimicrobial resistance genes to Pseudomonas aeruginosa.

Highly specific gene silencing by artificial miRNAs in rice

Highly specific gene silencing by artificial microRNAs in Arabidopsis

Highly specific gene silencing by artificial microRNAs in the unicellular alga Chlamydomonas reinhardtii.

Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome

Identification of a spontaneous frame shift mutation in a nonreference Arabidopsis accession using whole genome sequencing

Impaired sterol ester synthesis alters the response of Arabidopsis thaliana to Phytophthora infestans

Jitterbug: somatic and germline transposon insertion detection at single-nucleotide resolution.

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

LOCAS--a low coverage assembly tool for resequencing projects

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

MDM2, MDM4 and EGFR Amplifications and Hyperprogression in Metastatic Acral and Mucosal Melanoma

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

Mutations in DCHS1 cause mitral valve prolapse

Negative selection in tumor genome evolution acts on essential cellular functions and the immunopeptidome.

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.

Optimal spliced alignments of short sequence reads

Optimal spliced alignments of short sequence reads

PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data

Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D

Recombination and linkage disequilibrium in Arabidopsis thaliana.

Reference-guided assembly of four diverse Arabidopsis thaliana genomes

Relationship between genome and epigenome--challenges and requirements for future research

SHOREmap: simultaneous mapping and mutation identification by deep sequencing

Selective epigenetic control of retrotransposition in Arabidopsis

Sequencing of natural strains of Arabidopsis thaliana with short reads

Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes

Simultaneous alignment of short reads against multiple genomes

Species-wide genetic incompatibility analysis identifies immune genes as hot spots of deleterious epistasis

Specific gene silencing by artificial MicroRNAs in Physcomitrella patens: an alternative to targeted gene knockouts

Spinal Cord Transcriptomic and Metabolomic Analysis after Excitotoxic Injection Injury Model of Syringomyelia.

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

Text similarity: an alternative way to search MEDLINE

The Arabidopsis lyrata genome sequence and the basis of rapid genome size change

The cis-regulatory code of Hox function in Drosophila.

The cis-regulatory code of Hox function in Drosophila.

The genomic landscape of meiotic crossovers and gene conversions in Arabidopsis thaliana

The rate and molecular spectrum of spontaneous mutations in Arabidopsis thaliana

The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues

Tissue-specific DNA methylation loss during ageing and carcinogenesis is linked to chromosome structure, replication timing and cell division rates

Tracking of Antibiotic Resistance Transfer and Rapid Plasmid Evolution in a Hospital Setting by Nanopore Sequencing

Transcriptional control of gene expression by microRNAs

WES in nonprogressive congenital ataxia: Diagnostic yield and identification of novel loci

Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders

Whole genome sequencing enabled the detection of a colistin-resistant hypermutating citrobacter werkmanii strain harbouring a novel metallo-beta-lactamase VIM-48.

Whole-genome sequencing of multiple Arabidopsis thaliana populations

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics