A. Jackson

发表

Cerebral organoids model human brain development and microcephaly

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

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.

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

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

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.

17q21.31 Microdeletion Syndrome: Further Expanding the Clinical Phenotype

J. Tolmie, A. Jackson, E. Maher, 2010, Cytogenetic and Genome Research.

Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

S. O’Rahilly, M. O’Driscoll, J. Nolan, 2011, Diabetes.

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

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

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

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

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.

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

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

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

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

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

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2018, bioRxiv.

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

Tom R. Gaunt, Thomas M. Keane, Chin Yang Shapland, 2018, bioRxiv.

Replication proteins and human disease.

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

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.

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

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

BRIT1/MCPH1 Links Chromatin Remodeling to DNA Damage Response

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

Hypomorphic PCNA mutation underlies a novel human DNA repair disorder

Ogi, H. Cross, M. Patton, 2014 .

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

H. Cross, M. Patton, A. Taylor, 2014, The Journal of clinical investigation.

Meier-Gorlin syndrome

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

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.

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

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

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.

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.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

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

Diversifying microtubules in brain development

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

Growth in individuals with Saul-Wilson syndrome.

C. Ferreira, A. Jackson, T. Niiler, 2020, American journal of medical genetics. Part A.

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.

Identification of Small-Molecule Inhibitors of the Ribonuclease H2 Enzyme

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

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

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

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

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

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..

Ribonuclease H2 in health and disease.

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

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

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

Nucleic acid‐mediated inflammatory diseases

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

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

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

Monocarboxylate transporter MCT1 is a target for immunosuppression

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

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

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

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.

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

Hussain Jafri, Emma Roberts, Jimi Adu, 2002, American journal of human genetics.

Microcephalin coordinates mitosis in the syncytial Drosophila embryo

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

cGAS surveillance of micronuclei links genome instability to innate immunity

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

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

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

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

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

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

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

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.

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

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

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.

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.

Lagging strand replication shapes the mutational landscape of the genome

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

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.

What primary microcephaly can tell us about brain growth.

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

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.

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.

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

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

Replication Replication Proteins and Human Disease

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

Defining the clinical phenotype of Saul-Wilson syndrome.

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

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.

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

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

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

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

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

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

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

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

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

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

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

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

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2024, American journal of human 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.

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

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

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.

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

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

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.

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

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

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.

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

Martin A. M. Reijns, D. Durocher, J. Moffat, 2018, Nature.

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.

Mechanisms and pathways of growth failure in primordial dwarfism.

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

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.

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

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

Human Papillomavirus Infections : Warts or

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

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

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

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.

Quantifying single nucleotide variant detection sensitivity in exome sequencing

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

Rare variants of the 3’-5’ DNA exonuclease TREX1 in early onset small vessel stroke

C. Sudlow, H. Markus, C. Logan, 2017, Wellcome open 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.

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.

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.

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.

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

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

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

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

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

Martin A. M. Reijns, Martin S. Taylor, A. Jackson, 2015, Nature Protocols.

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.

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.

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

Robert W. Taylor, Mark T. Handley, A. von Kriegsheim, 2018, bioRxiv.

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

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

Defining the clinical phenotype of Saul-Wilson syndrome.

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

Mutation in ferritin light chain causes dominant adult onset neurodegeneration

D. Bates, C. Morris, A. Coulthard, 2001 .

A gene for ataxic cerebral palsy maps to chromosome 9p12–q12

C. Woods, A. Markham, A. Jackson, 2000, European Journal of Human 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.

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 .

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.

Edinburgh Research Explorer Meier-Gorlin syndrome

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