List of works - Martin A.M. Reijns

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection

scientific article published on 15 December 2020

Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model

scientific article published on 2 November 2017

Analysis of Lsm1p and Lsm8p domains in the cellular localization of Lsm complexes in budding yeast.

scientific article published on 20 May 2009

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

scientific article published on 23 June 2019

CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions

scientific article published in Nature

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

scientific article published on 6 December 2018

DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes

scientific article published on 09 March 2022

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

scientific article

Defective removal of ribonucleotides from DNA promotes systemic lupus erythematosus.

scientific article published on 28 September 2015

Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development.

scientific article

Epithelial RNase H2 Maintains Genome Integrity and Prevents Intestinal Tumorigenesis in Mice

scientific article published on 28 September 2018

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

scientific article published on 26 November 2018

Genome-wide mapping of embedded ribonucleotides and other noncanonical nucleotides using emRiboSeq and EndoSeq.

scientific article published on 27 August 2015

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

scientific article

Identification of VP19 and VP15 of white spot syndrome virus (WSSV) and glycosylation status of the WSSV major structural proteins

scientific article

In silico protein interaction screening uncovers DONSON’s role in replication initiation

scientific article published on 17 August 2023

Mutagenesis of PepA suggests a new model for the Xer/cer synaptic complex.

scientific article

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

scientific article published on 13 February 2017

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

scientific article published on 15 October 2020

RNA:DNA hybrids are a novel molecular pattern sensed by TLR9.

scientific article published on 10 February 2014

RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition

article

Requirements for nuclear localization of the Lsm2-8p complex and competition between nuclear and cytoplasmic Lsm complexes

scientific article

Ribonuclease H2 in health and disease.

scientific article

Ribonucleotide excision repair is essential to prevent squamous cell carcinoma of the skin

Ribonucleotides misincorporated into DNA act as strand-discrimination signals in eukaryotic mismatch repair

scientific article

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

scientific article published on 09 February 2022

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

scientific article published on 13 May 2013

The Lsm2-8 complex determines nuclear localization of the spliceosomal U6 snRNA.

scientific article published on 23 January 2007

cGAS surveillance of micronuclei links genome instability to innate immunity

scientific article published on 24 July 2017

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

scientific article published on 23 November 2020

List of works by Martin A.M. Reijns

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection

Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model

Analysis of Lsm1p and Lsm8p domains in the cellular localization of Lsm complexes in budding yeast.

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Defective removal of ribonucleotides from DNA promotes systemic lupus erythematosus.

Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development.

Epithelial RNase H2 Maintains Genome Integrity and Prevents Intestinal Tumorigenesis in Mice

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Genome-wide mapping of embedded ribonucleotides and other noncanonical nucleotides using emRiboSeq and EndoSeq.

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

Identification of VP19 and VP15 of white spot syndrome virus (WSSV) and glycosylation status of the WSSV major structural proteins

In silico protein interaction screening uncovers DONSON’s role in replication initiation

Mutagenesis of PepA suggests a new model for the Xer/cer synaptic complex.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

RNA:DNA hybrids are a novel molecular pattern sensed by TLR9.

RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition

Requirements for nuclear localization of the Lsm2-8p complex and competition between nuclear and cytoplasmic Lsm complexes

Ribonuclease H2 in health and disease.

Ribonucleotide excision repair is essential to prevent squamous cell carcinoma of the skin

Ribonucleotides misincorporated into DNA act as strand-discrimination signals in eukaryotic mismatch repair

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

The Lsm2-8 complex determines nuclear localization of the spliceosomal U6 snRNA.

cGAS surveillance of micronuclei links genome instability to innate immunity

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing