List of works - Andrew Jackson

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.

scientific article

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

scientific article published in December 2000

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

scientific article published on 10 August 2012

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21

scientific article

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

scientific article published on 15 December 2020

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

scientific article

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

scientific journal article

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome

scientific article published on 24 September 2018

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

scientific article published on 11 July 2000

BRIT1/MCPH1 links chromatin remodelling to DNA damage response.

scientific article

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

scientific article published on 23 June 2019

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

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

scientific article published in Nature

Cerebral organoids model human brain development and microcephaly

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

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

scientific article

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

scientific article published on 6 December 2018

DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain

scientific article published on 07 August 2020

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

Diversifying microtubules in brain development.

scientific article

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

scientific article

Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

scientific article published on 01 August 2017

Evolution of primary microcephaly genes and the enlargement of primate brains

scientific article

Exploring microcephaly and human brain evolution ⬇️

scientific article published on May 9, 2012

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

scientific article published on 26 November 2018

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

scientific article

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

scientific article published on 27 August 2015

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

scientific article published on 20 July 2012

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

scientific article published on 09 October 2020

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

scientific article

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

scientific article published on 11 March 2019

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

scientific article

Identification of small-molecule inhibitors of the ribonuclease H2 enzyme.

scientific article

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

scientific article published on 17 August 2023

Lagging-strand replication shapes the mutational landscape of the genome

scientific article

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

scientific article published in Nature Communications

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

scientific article

Mechanisms and pathways of growth failure in primordial dwarfism.

scientific article published on October 2011

Meier-Gorlin syndrome

scientific article

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

scientific article

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder.

scientific article published in May 2005

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

scientific article (publication date: April 2017)

Microcephalin coordinates mitosis in the syncytial Drosophila embryo

scientific article published on 25 September 2007

Murray and Jackson reply.

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 DONSON disrupt replication fork stability and cause microcephalic dwarfism

scientific article published on 13 February 2017

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

scientific article

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 26 July 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 6 September 2018

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

scientific article

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

scientific article

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

scientific article published on 23 December 2007

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

scientific article published on 5 March 2015

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

scientific article

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

scientific article

Nucleic acid-mediated inflammatory diseases

scientific article published on September 2008

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

scientific article

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

scientific article published on 15 October 2020

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

scientific article

Quantifying single nucleotide variant detection sensitivity in exome sequencing

scientific article

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

scientific article published on 10 February 2014

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

scientific article

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

scientific article published on 18 June 2006

Replication Proteins and Human Disease ⬇️

scientific article published on January 1, 2014

Ribonuclease H2 in health and disease.

scientific article

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

scientific article published on 22 February 2016

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

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

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

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

scientific article

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

scientific article published on 23 July 2015

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

scientific article (publication date: 2014)

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

scientific article

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

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

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

scientific article published on October 1999

Thrombotic microangiopathy associated with interferon beta

scientific article

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.

scientific article

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

scientific article published on 23 September 2016

Type I interferon dysregulation and neurological disease

scientific article published on 25 August 2015

What primary microcephaly can tell us about brain growth.

scientific article published on 10 July 2006

cGAS surveillance of micronuclei links genome instability to innate immunity

scientific article published on 24 July 2017

List of works by Andrew Jackson

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21

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

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

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

Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome

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

BRIT1/MCPH1 links chromatin remodelling to DNA damage response.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

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

Cerebral organoids model human brain development and microcephaly

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

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

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Defective removal of ribonucleotides from DNA promotes systemic lupus erythematosus.

Diversifying microtubules in brain development.

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

Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Evolution of primary microcephaly genes and the enlargement of primate brains

Exploring microcephaly and human brain evolution ⬇️

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

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

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

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

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

Identification of small-molecule inhibitors of the ribonuclease H2 enzyme.

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

Lagging-strand replication shapes the mutational landscape of the genome

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

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

Mechanisms and pathways of growth failure in primordial dwarfism.

Meier-Gorlin syndrome

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

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder.

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Microcephalin coordinates mitosis in the syncytial Drosophila embryo

Murray and Jackson reply.

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

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

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

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

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

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

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

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

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

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

Nucleic acid-mediated inflammatory diseases

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

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

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

Quantifying single nucleotide variant detection sensitivity in exome sequencing

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

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

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

Replication Proteins and Human Disease ⬇️

Ribonuclease H2 in health and disease.

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

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

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

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.

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

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

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

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

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