List of works - Peter De Rijk

A qPCR assay to detect and quantify Shiga toxin-producing E. coli (STEC) in cattle and on farms: a potential predictive tool for STEC culture-positive farms.

scientific article

Accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

BioGraph: unsupervised biomedical knowledge discovery via automated hypothesis generation

scientific article published on 22 June 2011

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila

scientific article

Compilation of small ribosomal subunit RNA sequences

scientific article published on 01 April 1991

Compilation of small ribosomal subunit RNA structures

scientific article

DCSE, an interactive tool for sequence alignment and secondary structure research

scientific article published on 01 December 1993

Database on the structure of large ribosomal subunit RNA

scientific article published on 01 September 1994

Database on the structure of large ribosomal subunit RNA

scientific article published on 01 January 1997

Database on the structure of large ribosomal subunit RNA

scientific article published on 01 January 1998

Database on the structure of large subunit ribosomal RNA.

scientific article published on January 1999

Database on the structure of small ribosomal subunit RNA

scientific article published on 01 January 1997

Database on the structure of small ribosomal subunit RNA

scientific article published on 01 January 1998

Database on the structure of small ribosomal subunit RNA.

scientific article

Database on the structure of small subunit ribosomal RNA.

scientific article published on January 1999

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

scientific article published on 18 March 2019

Detailed analysis of the serotonin transporter gene (SLC6A4) shows no association with bipolar disorder in the Northern Swedish population

scientific article published in June 2009

Evaluation of a multiplex-PCR detection in combination with an isolation method for STEC O26, O103, O111, O145 and sorbitol fermenting O157 in food

scientific article

Genetic variants in microRNA genes: impact on microRNA expression, function, and disease

scientific article

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

scientific article published on 11 May 2005

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

article

Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.

scientific article

Identification of rare copy number variants in high burden schizophrenia families

scientific article published on 15 March 2013

Less cognitive and neurological deficits in schizophrenia patients carrying risk variant in ZNF804A.

scientific article published on 29 August 2012

Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample

scientific article

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets

scientific article

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

scientific article published on 22 October 2015

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

scientific article published on 18 December 2011

Phylogenetic study of the genus Plasmodium based on the secondary structure-based alignment of the small subunit ribosomal RNA ⬇️

scientific article published on December 1, 1997

Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?

scientific article published on 22 August 2012

Reconstructing evolution from eukaryotic small-ribosomal-subunit RNA sequences: calibration of the molecular clock

scientific article published in August 1993

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

scientific article

RnaViz 2: an improved representation of RNA secondary structure.

scientific article published in January 2003

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.

scientific article

SNPbox: a modular software package for large-scale primer design

scientific article

SNPbox: web-based high-throughput primer design from gene to genome

scientific article published on July 2004

SNPbox: web-based high-throughput primer design with an eye for repetitive sequences

scientific article published on January 2007

Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.

scientific article

Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.

scientific article

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

scientific article published on 11 June 2019

Support for NRG1 as a Susceptibility Factor for Schizophrenia in a Northern Swedish Isolated Population

scientific article published on 01 August 2009

The European large subunit ribosomal RNA database

scientific article published on 01 January 2000

The phylogeny of the Hyphochytriomycota as deduced from ribosomal RNA sequences of Hyphochytrium catenoides ⬇️

scientific article published on July 1, 1995

The secondary structure of Nosema apis large subunit ribosomal RNA ⬇️

scientific article published on November 8, 1998

miRVaS: a tool to predict the impact of genetic variants on miRNAs

scientific article published on 17 September 2015

novoSNP, a novel computational tool for sequence variation discovery

scientific article published on March 2005

List of works by Peter De Rijk

A qPCR assay to detect and quantify Shiga toxin-producing E. coli (STEC) in cattle and on farms: a potential predictive tool for STEC culture-positive farms.

Accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

BioGraph: unsupervised biomedical knowledge discovery via automated hypothesis generation

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila

Compilation of small ribosomal subunit RNA sequences

Compilation of small ribosomal subunit RNA structures

DCSE, an interactive tool for sequence alignment and secondary structure research

Database on the structure of large ribosomal subunit RNA

Database on the structure of large ribosomal subunit RNA

Database on the structure of large ribosomal subunit RNA

Database on the structure of large subunit ribosomal RNA.

Database on the structure of small ribosomal subunit RNA

Database on the structure of small ribosomal subunit RNA

Database on the structure of small ribosomal subunit RNA.

Database on the structure of small subunit ribosomal RNA.

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Detailed analysis of the serotonin transporter gene (SLC6A4) shows no association with bipolar disorder in the Northern Swedish population

Evaluation of a multiplex-PCR detection in combination with an isolation method for STEC O26, O103, O111, O145 and sorbitol fermenting O157 in food

Genetic variants in microRNA genes: impact on microRNA expression, function, and disease

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.

Identification of rare copy number variants in high burden schizophrenia families

Less cognitive and neurological deficits in schizophrenia patients carrying risk variant in ZNF804A.

Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

Phylogenetic study of the genus Plasmodium based on the secondary structure-based alignment of the small subunit ribosomal RNA ⬇️

Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?

Reconstructing evolution from eukaryotic small-ribosomal-subunit RNA sequences: calibration of the molecular clock

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

RnaViz 2: an improved representation of RNA secondary structure.

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.

SNPbox: a modular software package for large-scale primer design

SNPbox: web-based high-throughput primer design from gene to genome

SNPbox: web-based high-throughput primer design with an eye for repetitive sequences

Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.

Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

Support for NRG1 as a Susceptibility Factor for Schizophrenia in a Northern Swedish Isolated Population

The European large subunit ribosomal RNA database

The phylogeny of the Hyphochytriomycota as deduced from ribosomal RNA sequences of Hyphochytrium catenoides ⬇️

The secondary structure of Nosema apis large subunit ribosomal RNA ⬇️

miRVaS: a tool to predict the impact of genetic variants on miRNAs

novoSNP, a novel computational tool for sequence variation discovery