A. Jackson

发表

Cerebral organoids model human brain development and microcephaly

Madeline A. Lancaster, M. Hurles, M. Lancaster, 2013, Nature.

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

E. Meyer, S. Chandran, D. Gale, 2016, Blood.

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

William C Earnshaw, Bertrand Vernay, Penny A Jeggo, 2008, Nature Genetics.

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

Gemma K. Alderton, P. Jeggo, M. O’Driscoll, 2006, Nature Cell Biology.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

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

Martin A. M. Reijns, Y. Crow, H. Van Esch, 2020, Nature Genetics.

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

Martin A. M. Reijns, A. Jackson, J. García-Pérez, 2018, The EMBO journal.

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

Martin A. M. Reijns, A. Jackson, G. Grimes, 2016, The EMBO journal.

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Martin A. M. Reijns, M. Nöthen, N. Hübner, 2015, The Journal of clinical investigation.

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

P. Plevani, S. Pizzi, S. Orcesi, 2014, Human molecular genetics.

Ribonuclease H2 in health and disease.

Martin A. M. Reijns, A. Jackson, A. Jackson, 2014, Biochemical Society transactions.

Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi–Goutières Syndrome

Martin A. M. Reijns, L. Lagae, B. Gener, 2013, Human mutation.

Enzymatic Removal of Ribonucleotides from DNA Is Essential for Mammalian Genome Integrity and Development

Martin A. M. Reijns, Martin S. Taylor, S. Boyle, 2012, Cell.

Ribonuclease H 2 mutations induce a cGASSTING-dependent innate immune response

Martin A. M. Reijns, A. Jackson, G. Grimes, 2016 .

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

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

C. Ponting, D. Bonthron, E. Bertini, 2006, Nature Genetics.

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

D. Barnes, D. Bonthron, H. Brunner, 2006, Nature Genetics.

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

C. Woods, Y. Crow, J. Bond, 2003, Journal of medical genetics.

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

C. Woods, J. Tolmie, H. Brunner, 2000, American journal of human genetics.

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

Martin A. M. Reijns, G. Baillie, E. Jones, 2010, The Journal of Biological Chemistry.

Lagging strand replication shapes the mutational landscape of the genome

Martin A. M. Reijns, Martin S. Taylor, James Ding, 2015, Nature.

BRIT1/MCPH1 Links Chromatin Remodeling to DNA Damage Response

G. Peng, M. Pan, Shiaw-Yih Lin, 2009, Nature Cell Biology.

BRIT 1 / MCPH 1 links chromatin remodelling to DNA damage response

G. Peng, Shiaw-Yih Lin, E. Yim, 2012 .

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

Damian Smedley, Paul N. Schofield, Peter N. Robinson, 2014, Nucleic Acids Res..

cGAS surveillance of micronuclei links genome instability to innate immunity

Martin A. M. Reijns, Daniel P. Simpson, Tamir Chandra, 2017, Nature.

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

C. Morris, A. Coulthard, P. Chinnery, 2001, Nature Genetics.

Replication Replication Proteins and Human Disease

K. Makarova, D. MacAlpine, N. Dixon, 2012 .

SET Nuclear Oncogene Associates with Microcephalin/MCPH1 and Regulates Chromosome Condensation*

C. Shaw-Smith, Junjie Chen, L. Bicknell, 2011, The Journal of Biological Chemistry.

Microcephalin: A Causal Link Between Impaired Damage Response Signalling and Microcephaly

P. Jeggo, M. O’Driscoll, A. Jackson, 2006, Cell cycle.

What primary microcephaly can tell us about brain growth.

C. Woods, J. Bond, J. Cox, 2006, Trends in molecular medicine.

Evolution of primary microcephaly genes and the enlargement of primate brains.

C. Ponting, A. Jackson, A. Jackson, 2005, Current opinion in genetics & development.

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

Martin A. M. Reijns, S. Robertson, J. Rappsilber, 2018, Nature Genetics.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, J. Al-Aama, P. Tomançak, 2017, Nature Genetics.

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

J. Al-Aama, J. Opitz, W. Reardon, 2012, European Journal of Human Genetics.

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Nine V.A.M. Knoers, Pierre Sarda, Jumana Y. Al-Aama, 2011, Nature Genetics.

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Hussain Jafri, Karl Sperling, André Reis, 2004, American journal of human genetics.

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

C. Woods, Y. Crow, C. Woods, 2000, American journal of human genetics.

Replication proteins and human disease.

R. Laskey, N. Coleman, A. Jackson, 2014, Cold Spring Harbor perspectives in biology.

Quantifying single nucleotide variant detection sensitivity in exome sequencing

Alison M. Meynert, Martin S. Taylor, Andrew P. Jackson, 2013, BMC Bioinformatics.

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

Martin A. M. Reijns, Martin S. Taylor, Michael D. Nicholson, 2022, Nature.

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

E. Zackai, C. Ponting, L. Sánchez-Pulido, 2016, American journal of human genetics.

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

G. Stewart, Yongqing Zhang, A. Jackson, 2020, Nature Communications.

Defining the clinical phenotype of Saul-Wilson syndrome.

D. Earl, H. Freeze, W. Gahl, 2020, Genetics in Medicine.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

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

Martin A. M. Reijns, Wei Yuan, Michael Aregger, 2018, Nature.

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

Martin A. M. Reijns, M. Hurles, M. Maghnie, 2015, Nature Genetics.

Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma

Grant W. Brown, T. Hoang, F. Charron, 2020, Nature Cancer.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2018, American journal of human genetics.

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

C. Ferreira, A. Gezdirici, P. Arn, 2019, Journal of Medical Genetics.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Edward S. Miller, T. Blundell, M. van der Burg, 2015, American journal of human genetics.

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

Martin A. M. Reijns, Y. Modis, R. Lundie, 2014, The EMBO journal.

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

E. Bongers, C. Wise, J. Murray, 2012, American journal of medical genetics. Part A.

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

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

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

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2018, bioRxiv.

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

J. Goodship, I. Wilson, D. Pilz, 2015, Genetics in Medicine.

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

C. Logan, A. Jackson, M. Bober, 2018, American journal of medical genetics. Part A.

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

Peter Nürnberg, Ingrid Hoffmann, Matthew E Hurles, 2014, Nature Genetics.

Mechanisms and pathways of growth failure in primordial dwarfism.

Anna Klingseisen, A. Jackson, 2011, Genes & development.

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

Martin A. M. Reijns, J. Walter, Masato T. Kanemaki, 2023, Science.

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

C. Mathew, M. Simpson, N. Mailand, 2022, Nature Communications.

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Martin A. M. Reijns, J. Marsh, J. Rankin, 2020, Genes & development.

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

Martin A. M. Reijns, D. Sillence, J. Marsh, 2019, Human mutation.

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

A. Jackson, M. Bober, A. Jackson, 2017, Current Osteoporosis Reports.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, P. Tomançak, N. Prescott, 2017, Nature Genetics.

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

Ahmed E. Fetit, A. Wood, C. Wise, 2016, Genes & development.

Meier-Gorlin syndrome

E. Bongers, H. Brunner, N. Knoers, 2015, Orphanet Journal of Rare Diseases.

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

M. Hurles, C. Woods, H. Firth, 2013, Human mutation.

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

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

Exploring microcephaly and human brain evolution

J. Murray, A. Jackson, 2012, Developmental medicine and child neurology.

Edinburgh Research Explorer Meier-Gorlin syndrome

E. Bongers, H. Brunner, N. Knoers, 2018 .

Mutations in DONSON disrupt replication fork stability and cause microcephalic 1 dwarfism . 2 3

Martin A. M. Reijns, Saleem, Abdulrahman, 2017 .

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

Penny A Jeggo, Claudia Kerzendorfer, P. Jeggo, 2011, Nature Genetics.

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

A. B. Krøigård, L. Ousager, K. Brusgaard, 2016, Clinical dysmorphology.

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

A. Need, C. Tregidgo, P. Furió-Tarí, 2020, Genetics in Medicine.

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

Colin A. Johnson, M. Hubank, E. Stupka, 2016, Journal of Medical Genetics.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Martin A. M. Reijns, J. Rosenfeld, Sancha Martin, 2018, American journal of human genetics.

A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss

A. Pagnamenta, D. Keays, S. Knight, 2012, American journal of medical genetics. Part A.

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

A. Pagnamenta, S. Knight, Jenny C. Taylor, 2012 .

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

C. Woods, G. Turner, G. Karbani, 2000, American journal of human genetics.

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

C. Woods, M. Levene, A. Markham, 1998, American journal of human genetics.

Monocarboxylate transporter MCT1 is a target for immunosuppression

A. Ross, Leslie R Evans, A. Jackson, 2005, Nature chemical biology.

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

M. Hurles, G. Stewart, L. Bicknell, 2018, Human mutation.

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

Robert W. Taylor, Mark T. Handley, A. von Kriegsheim, 2019, PLoS genetics.

Ribonucleotides Misincorporated into DNA Act as Strand-Discrimination Signals in Eukaryotic Mismatch Repair

Martin A. M. Reijns, P. Plevani, J. Jiricny, 2013, Molecular cell.

ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

K. Bushby, F. Muntoni, A. Schapira, 2013, Human mutation.

Identification of Small-Molecule Inhibitors of the Ribonuclease H2 Enzyme

A. Jackson, C. Kettleborough, J. Large, 2013, Journal of biomolecular screening.

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

Martin A. M. Reijns, Martin S. Taylor, James Ding, 2015, Nature Protocols.

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype

K. Sperling, D. Schindler, A. Jackson, 2005, Human mutation.

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

Martin A. M. Reijns, E. Jones, A. Jackson, 2011, Nucleic acids research.

Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly.

S. Mansour, Nikolas Pontikos, G. Arno, 2019, American journal of ophthalmology.

Microcephalin coordinates mitosis in the syncytial Drosophila embryo

P. Ingham, D. Strutt, A. Jackson, 2007, Journal of Cell Science.

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

D. Jamieson, B. Ylstra, W. Bickmore, 2016, Genes & development.

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

C. Woods, A. Markham, A. Jackson, 1999, European Journal of Human Genetics.

Human Papillomavirus Infections : Warts or

K. Makarova, B. Edgar, D. MacAlpine, 2013 .

Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin.

Martin A. M. Reijns, T. Kunkel, Werner Müller, 2018, Cancer research.

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

Colin A. Johnson, M. Hubank, E. Stupka, 2015, Journal of Medical Genetics.

Nucleic acid‐mediated inflammatory diseases

A. Jackson, A. Leitch, R. Rigby, 2008, Bioessays.

Mechanisms and pathways of growth failure in primordial dwarfism.

A. Jackson, Anna Klingseisen, A. Jackson, 2011, Genes & development.

Nucleic acid‐mediated inflammatory diseases

A. Leitch, R. Rigby, A. Jackson, 2008, BioEssays : news and reviews in molecular, cellular and developmental biology.

Ribonucleotides Misincorporated into DNA Act as Strand-Discrimination Signals in Eukaryotic Mismatch Repair

Martin A. M. Reijns, P. Plevani, J. Jiricny, 2013, Molecular cell.

Ribonuclease H2 in health and disease.

Martin A. M. Reijns, A. Jackson, 2014, Biochemical Society transactions.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

Edinburgh Research Explorer Quantifying Single Nucleotide Variant Detection Sensitivity in Exome Sequencing Quantifying Single Nucleotide Variant Detection Sensitivity in Exome Sequencing Quantifying Single Nucleotide Variant Detection Sensitivity in Exome Sequencing

Martin S. Taylor, M. Hurles, L. Bicknell, 2022 .

Diversifying microtubules in brain development

A. Jackson, A. Jackson, 2009, Nature Genetics.