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

The Journal of pathology, 2017-01, Vol.241 (2), p.192-207

O'Driscoll, Mark

2017

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Diseases associated with defective responses to DNA damage

Cold Spring Harbor perspectives in biology, 2012-12, Vol.4 (12), p.a012773-a012773

O'Driscoll, Mark

2012

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Congenital microcephaly

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-06, Vol.166C (2), p.124-139

2014

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

Nature reviews. Genetics, 2006-01, Vol.7 (1), p.45-54

2006

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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

EMBO reports, 2024-06, Vol.25 (8), p.3432-3455

2024

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The consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer

Seminars in cell & developmental biology, 2011-10, Vol.22 (8), p.875-885

2011

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INK4a/ARF-dependent senescence upon persistent replication stress

Cell cycle (Georgetown, Tex.), 2013-07, Vol.12 (13), p.1997-1998

O'Driscoll, Mark

2013

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ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation

Cancer research (Chicago, Ill.), 2004-04, Vol.64 (7), p.2390-2396

2004

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

DNA repair, 2009-09, Vol.8 (9), p.1139-1152

2009

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Pneumatosis Intestinalis of the Colon and Greater Omentum following Small Bowel Resection

Case reports in surgery, 2022, Vol.2022, p.2670244-4

2022

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

Nature genetics, 2011-04, Vol.43 (4), p.350-355

2011

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Mouse models for ATR deficiency

DNA repair, 2009-11, Vol.8 (11), p.1333-1337

O’Driscoll, Mark

2009

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

The EMBO journal, 2006-12, Vol.25 (24), p.5775-5782

2006

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SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation

Human molecular genetics, 2017-10, Vol.26 (19), p.3713-3721

2017

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

DNA repair, 2008-07, Vol.7 (7), p.1039-1050

2008

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Homozygous DBF4 mutation as a cause of severe congenital neutropenia

Journal of allergy and clinical immunology, 2023-07, Vol.152 (1), p.266-277

2023

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Regulation of DNA damage responses and cell cycle progression by hMOB2

Cellular signalling, 2015-02, Vol.27 (2), p.326-339

2015

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

Nature genetics, 2003-04, Vol.33 (4), p.497-501

2003

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Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome

PLoS genetics, 2013-03, Vol.9 (3), p.e1003360-e1003360

2013

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Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome

PLoS genetics, 2012-11, Vol.8 (11), p.e1002945

2012

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

Human molecular genetics, 2017-01, Vol.26 (1), p.19-32

2017

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

DNA repair, 2008-06, Vol.7 (6), p.997-1003

O’Driscoll, Mark

2008

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

Human molecular genetics, 2012-05, Vol.21 (10), p.2181-2193

2012

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

DNA repair, 2013-08, Vol.12 (8), p.637-644

2013

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Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum"

Human mutation, 2016-03, Vol.37 (3), p.242-245

2016

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

Diseases associated with defective responses to DNA damage

Congenital microcephaly

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

The consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer

INK4a/ARF-dependent senescence upon persistent replication stress

ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation

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

Pneumatosis Intestinalis of the Colon and Greater Omentum following Small Bowel Resection

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

Mouse models for ATR deficiency

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

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation

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

Homozygous DBF4 mutation as a cause of severe congenital neutropenia

Regulation of DNA damage responses and cell cycle progression by hMOB2

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

Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome

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

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

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

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

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum"

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