List of works - Jana Vandrovcova

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks

scientific article

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

scientific article

Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation

scientific article published on 27 August 2007

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

scientific article published on 30 January 2017

Ensembl 2011

scientific article

Ensembl 2012

scientific article

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

scientific article

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

scientific article

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

scientific article

Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences

scientific article published in March 2018

Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q.

scientific article

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia

scientific article published on 13 June 2013

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

scientific article

Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important?

scientific article

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

scientific article

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

scientific article published on June 2017

Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome

scientific article

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing

scientific article

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

scientific article published on 27 September 2016

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study

scientific article

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

scientific article published on 24 March 2016

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

scientific article

Variation in tau isoform expression in different brain regions and disease states

scientific article published on 19 February 2013

List of works by Jana Vandrovcova

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Ensembl 2011

Ensembl 2012

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences

Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q.

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important?

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

Variation in tau isoform expression in different brain regions and disease states