List of works - Andrew Jackson

Cerebral organoids model human brain development and microcephaly

scientific article

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

scientific article

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

scientific article (publication date: 2014)

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

scientific article

Identification of microcephalin, a protein implicated in determining the size of the human brain

scientific article

cGAS surveillance of micronuclei links genome instability to innate immunity

scientific article published on 24 July 2017

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

scientific article

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

scientific article published on 23 December 2007

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

scientific article

Mechanisms and pathways of growth failure in primordial dwarfism.

scientific article published on October 2011

Regulation of mitotic entry by microcephalin and its overlap with ATR signalling

scientific article published on 18 June 2006

BRIT1/MCPH1 links chromatin remodelling to DNA damage response.

scientific article

Lagging-strand replication shapes the mutational landscape of the genome

scientific article

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

scientific article

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

scientific article

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

scientific article

What primary microcephaly can tell us about brain growth.

scientific article published on 10 July 2006

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

scientific article

Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response

scientific article published on 22 February 2016

PCNA directs type 2 RNase H activity on DNA replication and repair substrates

scientific article

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

scientific article published on 01 August 1998

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

scientific article published in Nature

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

scientific article published on 10 February 2014

Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid

scientific article

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

scientific article published on October 1999

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

scientific article

The Structure of the Human RNase H2 Complex Defines Key Interaction Interfaces Relevant to Enzyme Function and Human Disease

scientific article

A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation

scientific journal article

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

scientific article published on 11 July 2000

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

scientific article

Evolution of primary microcephaly genes and the enlargement of primate brains

scientific article

Quantifying single nucleotide variant detection sensitivity in exome sequencing

scientific article

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

scientific article

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

scientific article published on 13 February 2017

Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability

scientific article

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

scientific article published on 29 June 2016

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

scientific article published on 5 March 2015

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

scientific article

Thrombotic microangiopathy associated with interferon beta

scientific article

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

scientific article

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

scientific article

The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis

scientific article

Nucleic acid-mediated inflammatory diseases

scientific article published on September 2008

Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature.

scientific article published on 23 September 2016

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

scientific article published on 23 July 2015

Condensin II mutation causes T-cell lymphoma through tissue-specific genome instability

scientific article

Ribonuclease H2 in health and disease.

scientific article

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation

scientific article

List of works by Andrew Jackson

Cerebral organoids model human brain development and microcephaly

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Identification of microcephalin, a protein implicated in determining the size of the human brain

cGAS surveillance of micronuclei links genome instability to innate immunity

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

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Mechanisms and pathways of growth failure in primordial dwarfism.

Regulation of mitotic entry by microcephalin and its overlap with ATR signalling

BRIT1/MCPH1 links chromatin remodelling to DNA damage response.

Lagging-strand replication shapes the mutational landscape of the genome

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

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

What primary microcephaly can tell us about brain growth.

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response

PCNA directs type 2 RNase H activity on DNA replication and repair substrates

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

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

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

Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

The Structure of the Human RNase H2 Complex Defines Key Interaction Interfaces Relevant to Enzyme Function and Human Disease

A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Evolution of primary microcephaly genes and the enlargement of primate brains

Quantifying single nucleotide variant detection sensitivity in exome sequencing

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

Thrombotic microangiopathy associated with interferon beta

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis

Nucleic acid-mediated inflammatory diseases

Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature.

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

Condensin II mutation causes T-cell lymphoma through tissue-specific genome instability

Ribonuclease H2 in health and disease.

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation