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Author Details

Andrew P Jackson
Institute of Genetics and Cancer, University of Edinburgh
1994
116
54
PMIDPaper TitleJournal TitlePublished Year
37590370In silico protein interaction screening uncovers DONSON's role in replication initiation.Science2023
37590370In silico protein interaction screening uncovers DONSON's role in replication initiation.Science2023
35140396Signatures of TOP1 transcription-associated mutagenesis in cancer and germline.Nature2022
35504971Publisher Correction: Signatures of TOP1 transcription-associated mutagenesis in cancer and germline.Nature2022
36333305Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.Nat Commun2022
35140396Signatures of TOP1 transcription-associated mutagenesis in cancer and germline.Nature2022
35504971Publisher Correction: Signatures of TOP1 transcription-associated mutagenesis in cancer and germline.Nature2022
36333305Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.Nat Commun2022
33460998The role of ALDH1A1 in contributing to breast tumour aggressiveness: A study conducted in an African population.Ann Diagn Pathol2021
35430602Author Correction: Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma.Nat Cancer2021
33460998The role of ALDH1A1 in contributing to breast tumour aggressiveness: A study conducted in an African population.Ann Diagn Pathol2021
35430602Author Correction: Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma.Nat Cancer2021
32652690Growth in individuals with Saul-Wilson syndrome.Am J Med Genet A2020
31949312Defining the clinical phenotype of Saul-Wilson syndrome.Genet Med2020
31784481Linked-read genome sequencing identifies biallelic pathogenic variants in <i>DONSON</i> as a novel cause of Meier-Gorlin syndrome.J Med Genet2020
32769987DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.Nat Commun2020
32652690Growth in individuals with Saul-Wilson syndrome.Am J Med Genet A2020
32853953Breast cancer stem cells: A fallow research ground in Africa.Pathol Res Pract2020
33230297cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.Nat Genet2020
33060134PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.Genes Dev2020
35122047Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma.Nat Cancer2020
35122047Sonic hedgehog accelerates DNA replication to cause replication stress promoting cancer initiation in medulloblastoma.Nat Cancer2020
31784481Linked-read genome sequencing identifies biallelic pathogenic variants in <i>DONSON</i> as a novel cause of Meier-Gorlin syndrome.J Med Genet2020
31949312Defining the clinical phenotype of Saul-Wilson syndrome.Genet Med2020
33060134PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.Genes Dev2020
33230297cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.Nat Genet2020
32769987DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.Nat Commun2020
32853953Breast cancer stem cells: A fallow research ground in Africa.Pathol Res Pract2020
30478443Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.Nat Genet2019
30478443Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.Nat Genet2019
31077665Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.Am J Ophthalmol2019
30856165ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.PLoS Genet2019
30773277Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.Am J Hum Genet2019
30773277Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.Am J Hum Genet2019
30856165ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.PLoS Genet2019
31077665Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.Am J Ophthalmol2019
29265708The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.Am J Med Genet A2018
29973717CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.Nature2018
30503519DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.Am J Hum Genet2018
30154151Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin.Cancer Res2018
30057030Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.Am J Hum Genet2018
30199583Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome.Hum Mutat2018
29959219RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition.EMBO J2018
30290151A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.Am J Hum Genet2018
30193137Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.Am J Hum Genet2018
29265708The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.Am J Med Genet A2018
29754823Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis.Mol Cell2018
30193137Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.Am J Hum Genet2018
29973717CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.Nature2018
30154151Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin.Cancer Res2018
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Co-authored papers 10
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Co-authored papers 9
Angela L Duker
Co-authored papers 9
Han G Brunner
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Co-authored papers 8
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Co-authored papers 7
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Wellcome Sanger Institute
Co-authored papers 7
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Co-authored papers 4
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Co-authored papers 3
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Co-authored papers 3
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Co-authored papers 3
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Bobby G Ng
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Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital
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Yasushi Okazaki
Intractable Disease Research Center, Graduate School of Medicine, Juntendo University
Co-authored papers 2
Charu Deshpande
Guy's Hospital
Co-authored papers 2
Alison Meynert
Institute of Genetics and Cancer, University of Edinburgh
Co-authored papers 2
H??l??ne Dollfus
Institut de Genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg
Co-authored papers 2
Sally Ann Lynch
University College Dublin
Co-authored papers 2
George E Tiller
Co-authored papers 2
Michael A Simpson
King's College London
Co-authored papers 2
Simon J Boulton
The Francis Crick Institute
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Release 1.2