List of works - Mark O'Driscoll

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

scientific article published on December 2000

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

scientific article (publication date: April 2003)

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

scientific article published on April 2004

ATR promotes cilia signalling: links to developmental impacts

scientific article published on 11 February 2016

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

scientific article

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

scientific article published in August 2004

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

scientific article published on 23 February 2011

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

scientific article

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

scientific article published on 10 February 2012

Clinical impact of ATR checkpoint signalling failure in humans

scientific article published on May 1, 2003

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.

scientific article published on May 1999

Congenital microcephaly

scientific article published on 09 May 2014

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

scientific article published on 18 February 2008

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

scientific article

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

scientific article

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

scientific article published on 18 April 2019

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

scientific article

Diseases associated with defective responses to DNA damage

scientific article

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

scientific article published in 2011

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

scientific article

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

scientific article

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

scientific article published on 16 February 2012

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

scientific article published on May 2008

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

scientific article

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

scientific article

INK4a/ARF-dependent senescence upon persistent replication stress

scientific article published on 11 June 2013

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

scientific article published on 23 November 2015

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

scientific article

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

scientific article

Immunological disorders and DNA repair

scientific article

Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome

scientific article

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

scientific article published on 13 March 2014

Life can be stressful without ATR

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

scientific article published on 23 May 2013

Microcephalin: a causal link between impaired damage response signalling and microcephaly

scientific article published on 16 October 2006

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

scientific article published on March 2016

Mouse models for ATR deficiency

scientific article published on 25 September 2009

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

scientific article

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

scientific article published on 11 January 2010

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

scientific article published on 27 February 2011

Mutations in PIK3R1 cause SHORT syndrome

scientific article published on 27 June 2013

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

scientific article

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

scientific article published on 23 December 2007

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

scientific article published in October 2017

Nbs1 is required for ATR-dependent phosphorylation events

scientific article

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

scientific article published on 12 June 2011

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

scientific article published on 25 October 2016

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

scientific article

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

scientific article published on 18 June 2006

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

scientific article

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

scientific article

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms

scientific article published on 25 April 2019

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

scientific article published on 10 April 2008

The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.

scientific article published on November 2004

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

scientific article published on 23 July 2011

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

article

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

scientific article

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

scientific article

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

scientific article published on 23 May 2008

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

scientific article

Understanding the impact of 1q21.1 copy number variant

scientific article

Unravelling the web of DNA repair disorders

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes

scientific article published in January 2014

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

scientific article

List of works by Mark O'Driscoll

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

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

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

ATR promotes cilia signalling: links to developmental impacts

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

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

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

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

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

Clinical impact of ATR checkpoint signalling failure in humans

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.

Congenital microcephaly

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

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

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

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

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

Diseases associated with defective responses to DNA damage

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

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

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

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

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

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

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

INK4a/ARF-dependent senescence upon persistent replication stress

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

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

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

Immunological disorders and DNA repair

Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome

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

Life can be stressful without ATR

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

Microcephalin: a causal link between impaired damage response signalling and microcephaly

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Mouse models for ATR deficiency

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

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

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

Mutations in PIK3R1 cause SHORT syndrome

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

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

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

Nbs1 is required for ATR-dependent phosphorylation events

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

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

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

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

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

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

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms

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

The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.

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

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

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

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

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

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

Understanding the impact of 1q21.1 copy number variant

Unravelling the web of DNA repair disorders

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes

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