M. O’Driscoll

发表

The role of double-strand break repair — insights from human genetics

Penny A. Jeggo, P. Jeggo, M. O’Driscoll, 2006, Nature Reviews Genetics.

XPC lymphoblastoid cells defective in the hMutSalpha DNA mismatch repair complex exhibit normal sensitivity to UVC radiation and normal transcription-coupled excision repair of DNA cyclobutane pyrimidine dimers.

Katsutoshi Kobayashi, P. Macpherson, P. Karran, 2004, DNA repair.

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

P. Jeggo, A. Gennery, K. Cerosaletti, 2001, Molecular cell.

ATR‐dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling

P. Jeggo, K. Cerosaletti, M. O’Driscoll, 2006, The EMBO journal.

A Ku80 fragment with dominant negative activity imparts a radiosensitive phenotype to CHO-K1 cells.

P. Jeggo, J. Bourhis, J. Bernier, 2000, Nucleic acids research.

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

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

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.

A. Whibley, G. Turner, F. L. Raymond, 2010, Human molecular genetics.

Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome

P. Jeggo, E. Bongers, H. Brunner, 2013, PLoS genetics.

Clinical Impact of ATR Checkpoint Signalling Failure in Humans

P. Jeggo, M. O’Driscoll, 2003, Cell cycle.

Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.

Gemma K. Alderton, P. Jeggo, A. Børglum, 2004, Human molecular genetics.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

G. Bejerano, S. Mehta, R. Hevner, 2017, Brain : a journal of neurology.

INK4a/ARF-dependent senescence upon persistent replication stress

M. O’Driscoll, 2013, Cell cycle.

Mouse models for ATR deficiency.

M. O’Driscoll, 2009, DNA repair.

UVB and caffeine: inhibiting the DNA damage response to protect against the adverse effects of UVB.

M. O’Driscoll, C. Kerzendorfer, 2009, The Journal of investigative dermatology.

Unmasking a killer: DNA O(6)-methylguanine and the cytotoxicity of methylating agents.

G. Aquilina, P. Karran, M. Bignami, 2000, Mutation research.

Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.

P. Jeggo, K. Cerosaletti, M. O’Driscoll, 2008, Human molecular genetics.

Combined mismatch and nucleotide excision repair defects in a human cell line: mismatch repair processes methylation but not UV- or ionizing radiation-induced DNA damage.

P. Karran, M. O’Driscoll, S. Martinelli, 1999, Carcinogenesis.

The cytotoxicity of DNA carboxymethylation and methylation by the model carboxymethylating agent azaserine in human cells.

P. Macpherson, P. Karran, M. O’Driscoll, 1999, Carcinogenesis.

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

J. Shendure, B. O’Roak, C. Cytrynbaum, 2012, Nature Genetics.

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of “PIK3CA‐Related Overgrowth Spectrum”

A. Rump, W. Dobyns, G. Mirzaa, 2016, Human mutation.

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

W. Dobyns, J. Gleeson, G. Mirzaa, 2014, Human Genetics.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

B. Chung, R. Hennekam, L. Biesecker, 2016, American journal of human genetics.

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

K. Devriendt, H. Van Esch, R. Newbury-Ecob, 2019, American journal of human genetics.

ATM and DNA-PK Function Redundantly to Phosphorylate H2AX after Exposure to Ionizing Radiation

P. Jeggo, M. Löbrich, Kuniyoshi Iwabuchi, 2004, Cancer Research.

LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition

J. Vermeesch, A. Carr, M. O’Driscoll, 2014, Disease Models & Mechanisms.

Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.

M. O’Driscoll, C. Kerzendorfer, R. Colnaghi, 2013, DNA repair.

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.

J. Vermeesch, M. O’Driscoll, C. Kerzendorfer, 2012, Human molecular genetics.

LETM 1 haploinsufficiency causes mitochondrial defects in cells from humans with

J. Vermeesch, A. Carr, M. O’Driscoll, 2022 .

Diseases associated with defective responses to DNA damage.

M. O’Driscoll, Mark O'Driscoll, 2012, Cold Spring Harbor perspectives in biology.

DNA Mismatch Repair

P. Karran, M. O’Driscoll, O. Humbert, 1998 .

DTYMK is essential for genome integrity and neuronal survival

H. Brunner, R. Rodenburg, C. Ferreira, 2021, Acta Neuropathologica.

American Journal of Medical Genetics Part C (seminars in Medical Genetics) Congenital Microcephaly

M. O’Driscoll, Diana Alcantara, Mark O 'driscoll, 2022 .

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.

Primary brain calcification: an international study reporting novel variants and associated phenotypes

D. Geschwind, M. Vidailhet, D. Galasko, 2018, European Journal of Human Genetics.

Primary brain calcification: an international study reporting novel variants and associated phenotypes

D. Geschwind, M. Vidailhet, D. Galasko, 2018, European Journal of Human Genetics.

The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer.

M. O’Driscoll, M. Volker, R. Colnaghi, 2011, Seminars in cell & developmental biology.

Causes and Consequences of Structural Genomic Alterations in the Human Genome

M. O’Driscoll, L. Hart, 2013 .

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

M. Nowaczyk, A. Lehman, B. Maranda, 2016, JCI insight.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

B. Frey, Leo J. Lee, Soma Das, 2013, Nature Genetics.

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

P. Jeggo, K. Prescott, G. Stewart, 2012, PLoS genetics.

Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

Yuhki Yanase, Michihiro Hide, Sheila A Fisher, 2012, American journal of human genetics.

Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.

P. Jeggo, W. Dobyns, M. O’Driscoll, 2007, American journal of human genetics.

A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

Judith A. Goodship, Penny A. Jeggo, C. Geoffrey Woods, 2003, Nature Genetics.

Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency.

M. O’Driscoll, C. Kerzendorfer, Claudia Kerzendorfer, 2009, DNA repair.

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

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

CUL4B-deficiency in humans: Understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function

A. Carr, M. O’Driscoll, C. Kerzendorfer, 2011, Mechanisms of Ageing and Development.

Radiation-induced micronuclei in human fibroblasts in relation to clonogenic radiosensitivity.

A. Kiltie, C. West, D. Scott, 1998, British Journal of Cancer.

Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders

M. O’Driscoll, 2008, Current genomics.

Variant ATRX Syndrome with Dysfunction of ATRX and MAGT1 Genes

M. Zwick, F. Wolf, M. O’Driscoll, 2014, Human mutation.

An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome.

P. Jeggo, A. Gennery, M. O’Driscoll, 2004, DNA repair.

Immunological disorders and DNA repair.

P. Jeggo, M. O’Driscoll, 2002, Mutation research.

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

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

The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery

M. O’Driscoll, 2017, The Journal of pathology.

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network

C. Thauvin-Robinet, M. O’Driscoll, Daniela Iaconis, 2016, Human molecular genetics.

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.

M. Dorschner, P. Byers, W. Dobyns, 2019, American journal of human genetics.

Hypomorphism in human NSMCE 2 linked to primordial dwarfism and insulin resistance

S. O’Rahilly, V. Saudek, I. Barroso, 2014 .

Regulation of DNA damage responses and cell cycle progression by hMOB2.

M. O’Driscoll, A. Hergovich, Valentí Gómez, 2015, Cellular signalling.

Nbs1 is required for ATR‐dependent phosphorylation events

Gemma K. Alderton, P. Jeggo, M. O’Driscoll, 2005, The EMBO journal.

The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders.

P. Jeggo, M. O’Driscoll, 2008, DNA repair.

Mutations in PIK3R1 cause SHORT syndrome.

Sahar Mansour, Kym M Boycott, Dennis E Bulman, 2013, American journal of human genetics.

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.

S. O’Rahilly, V. Saudek, I. Barroso, 2014, The Journal of clinical investigation.

Mutations in PIK 3 R 1 Cause SHORT Syndrome

W. Reardon, S. Mansour, K. Boycott, 2013 .

Increased RPA1 Gene Dosage Affects Genomic Stability Potentially Contributing to 17p13.3 Duplication Syndrome

J. Lupski, W. Bi, M. O’Driscoll, 2011, PLoS genetics.

CsA can induce DNA double-strand breaks: implications for BMT regimens particularly for individuals with defective DNA repair

P. Jeggo, M. O’Driscoll, P. Jeggo, 2008, Bone Marrow Transplantation.

Cyclosporine A can induce DNA double strand breaks: implications for bone marrow transplantation regimens particularly for individuals with defective DNA repair.

P. Jeggo, M. O’Driscoll, 2008 .

Understanding the impact of 1q21.1 copy number variant

P. Pavlidis, E. Strong, M. O’Driscoll, 2011, Orphanet journal of rare diseases.

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

S. O’Rahilly, A. Palotie, C. Scott, 2011, Front. Endocrin..

Title Defects in the ATR-Dependent DNA Damage Response Pathway andHuman Syndromes

M. O’Driscoll, 2019 .

Defects in the ATR-dependent DNA damage response pathway and human syndromes

M. O’Driscoll, 2009 .

DNA Repair: Disorders

A. Lehmann, M. O’Driscoll, 2010 .

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

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

Neuropathology of fetal stage Seckel syndrome: A case report providing a morphological correlate for the emerging molecular mechanisms

P. Shannon, M. O’Driscoll, S. Keating, 2012, Brain and Development.

Homozygous DBF4 mutation as a cause for severe congenital neutropenia.

Susan M. Schlenner, V. Lagou, A. Liston, 2023, The Journal of allergy and clinical immunology.

Life can be stressful without ATR

M. O’Driscoll, 2009, Nature Genetics.

ATR promotes cilia signalling: links to developmental impacts

Penny A. Jeggo, P. Jeggo, M. Philipp, 2016, Human molecular genetics.

TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders.

M. O’Driscoll, 2008, DNA repair.

novel de novo mutation in PRKCE ( Protein Kinase C ) impairing TORC 2 dependent AKT ɛ activation

K. Boycott, T. Hartley, M. Tétreault, 2019 .

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase C[Latin Small Letter Open E]) impairing TORC2-dependent AKT activation

K. Boycott, T. Hartley, M. Tétreault, 2017, Human molecular genetics.

A novel role for the peptidyl-prolyl cis-trans isomerase Cyclophilin A in DNA-repair following replication fork stalling via the MRE11-RAD50-NBS1 complex

M. O’Driscoll, R. Colnaghi, E. Outwin, 2023, bioRxiv.

Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination

P. Jeggo, G. Morgan, S. Rollinson, 2002, Journal of medical genetics.

Diseases associated with defective responses to DNA damage.

M. O’Driscoll, 2012, Cold Spring Harbor perspectives in biology.

Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

S. Fisher, J. Callen, J. McGrath, 2012, American journal of human genetics.