A. Leitch

发表

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.

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.

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

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

Nuclear thymidylate synthase expression, p53 expression and 5FU response in colorectal carcinoma

P. Johnston, D. Longley, D. Jodrell, 2001, British Journal of Cancer.

Genetic interactions between the Wilms' tumor 1 gene and the p53 gene.

D. Harrison, A. Clarke, L. Spraggon, 2002, Cancer research.

Genetic Interactions between the Wilms ’ Tumor 1 Gene and the p 53 Gene 1

D. Harrison, A. Clarke, L. Spraggon, 2002 .

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

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

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

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

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.

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.

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.

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

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

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

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

Stat3 is required for the development of skin cancer.

J. Bromberg, A. Leitch, Jacqueline Bromberg, 2004, The Journal of clinical investigation.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

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

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2018, 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.

Requirement of matrix metalloproteinase-9 for the transformation of human mammary epithelial cells by Stat3-C.

W. Gerald, J. Bromberg, K. Leslie, 2004, Proceedings of the National Academy of Sciences of the United States of America.

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.

Heterozygosity for p53 promotes microsatellite instability and tumorigenesis on a Msh2 deficient background

O. Sansom, A. Wyllie, A. Clarke, 2002, Oncogene.

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.

Nucleic acid‐mediated inflammatory diseases

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

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

Y. Okazaki, H. Williams, M. Dattani, 2018, American journal of human genetics.