List of works - Neil V Morgan

A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger

scientific article published in 2022

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

scientific article published on 16 May 2013

A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants

scientific article published on 15 September 2020

A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia

scientific article published on 08 October 2018

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)

scientific article

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

scientific article

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

scientific article

Addressing the challenges of genetic screening for deafness

scientific article

An adaptable analysis workflow for characterization of platelet spreading and morphology

scientific article published on 23 April 2020

Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

scientific article

CD3G gene defects in familial autoimmune thyroiditis.

scientific article

CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes

scientific article published on 01 January 2012

CRISPR-Cas9 Mediated Labelling Allows for Single Molecule Imaging and Resolution

scientific article published on 16 August 2017

Cell-Free DNA in the Investigation of Miscarriage

scientific article published on 26 October 2020

Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay

scientific article published on 09 January 2014

Comparison of multiple electrode aggregometry with lumi-aggregometry for the diagnosis of patients with mild bleeding disorders.

scientific article published in August 2017

Constitutive activation of hypoxia-inducible genes related to overexpression of hypoxia-inducible factor-1alpha in clear cell renal carcinomas

scientific article

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

scientific article published on 22 January 2016

Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors

scientific article published on 8 January 2015

Dual proteolytic pathways govern glycolysis and immune competence

scientific article

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

scientific article

Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinoma

scientific article

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

scientific article published on 3 March 2016

Evaluation of the Total Thrombus-Formation System (T-TAS): application to human and mouse blood analysis

scientific article published on 26 October 2018

Genotyping and phenotyping of platelet function disorders

scientific article

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression

scientific article published on 3 March 2016

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

scientific article published on 3 March 2009

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

scientific article

HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron

scientific article

High-throughput platelet spreading analysis: a tool for the diagnosis of platelet-based bleeding disorders

scientific article published on 20 June 2019

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

scientific article published on 26 May 2009

ISTH Advanced Training Course on platelet bleeding disorders: How should they be investigated?St. Anne's College, Oxford, 6-9th September 2016.

scientific article published on 14 November 2016

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

scientific article

Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan

scientific article published on 30 March 2016

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

scientific article published on 18 May 2009

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

scientific article published on 5 October 2017

Investigation of the contribution of an underlying platelet defect in women with unexplained heavy menstrual bleeding

scientific article published on 06 December 2018

Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life

article by Gillian C Lowe et al published April 2013 in Thrombosis and Haemostasis

Molecular genetic analysis of FIH-1, FH, and SDHB candidate tumour suppressor genes in renal cell carcinoma

scientific article published on July 2004

Multigene methylation analysis of Wilms' tumour and adult renal cell carcinoma

scientific article

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis

scientific article published on 16 February 2010

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

scientific article

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome

scientific article

Mutation in is associated with severe congenital thrombocytopenia

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells

scientific article

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)

scientific article

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

scientific article

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)

scientific article

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

scientific article

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

scientific article

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

scientific article

New insights into glycoprotein Ibα desialylation-mediated platelet clearance

scientific article published on 04 June 2020

Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

scientific article

Novel gene variants in patients with platelet-based bleeding using combined exome sequencing and RNAseq murine expression data

scientific article published on 06 October 2020

Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

scientific article published on 27 May 2016

Optimised insert design for improved single-molecule imaging and quantification through CRISPR-Cas9 mediated knock-in

scientific article published on 02 October 2019

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

scientific article

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.

scientific article published in March 2009

Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma

scientific article published in May 2002

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

scientific article published on 9 September 2010

Potential genetic causes of miscarriage in euploid pregnancies: a systematic review

scientific article published on 01 July 2019

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease

scientific article

Role of the novel endoribonuclease SLFN14 and its disease causing mutations in ribosomal degradation

scientific article published on 20 April 2018

SLFN14 gene mutations associated with bleeding

scientific article published on 04 August 2019

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

scientific journal article

STAT2 deficiency and susceptibility to viral illness in humans

scientific journal article

Schlafen 14 (SLFN14) is a novel antiviral factor involved in the control of viral replication.

scientific article

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity

scientific journal article

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

scientific article

Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

scientific article published on 27 January 2015

Variable presentation of primary immune deficiency: two cases with CD3 gamma deficiency presenting with only autoimmunity

scientific article published in May 2013

What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?

scientific article published on 30 January 2014

Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function

scientific article published on 7 March 2017

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

scientific article

Whole-exome-sequencing-based discovery of human FADD deficiency

scientific article

List of works by Neil V Morgan

A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants

A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

Addressing the challenges of genetic screening for deafness

An adaptable analysis workflow for characterization of platelet spreading and morphology

Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

CD3G gene defects in familial autoimmune thyroiditis.

CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes

CRISPR-Cas9 Mediated Labelling Allows for Single Molecule Imaging and Resolution

Cell-Free DNA in the Investigation of Miscarriage

Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay

Comparison of multiple electrode aggregometry with lumi-aggregometry for the diagnosis of patients with mild bleeding disorders.

Constitutive activation of hypoxia-inducible genes related to overexpression of hypoxia-inducible factor-1alpha in clear cell renal carcinomas

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors

Dual proteolytic pathways govern glycolysis and immune competence

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinoma

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

Evaluation of the Total Thrombus-Formation System (T-TAS): application to human and mouse blood analysis

Genotyping and phenotyping of platelet function disorders

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron

High-throughput platelet spreading analysis: a tool for the diagnosis of platelet-based bleeding disorders

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

ISTH Advanced Training Course on platelet bleeding disorders: How should they be investigated?St. Anne's College, Oxford, 6-9th September 2016.

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Investigation of the contribution of an underlying platelet defect in women with unexplained heavy menstrual bleeding

Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life

Molecular genetic analysis of FIH-1, FH, and SDHB candidate tumour suppressor genes in renal cell carcinoma

Multigene methylation analysis of Wilms' tumour and adult renal cell carcinoma

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome

Mutation in is associated with severe congenital thrombocytopenia

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

New insights into glycoprotein Ibα desialylation-mediated platelet clearance

Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

Novel gene variants in patients with platelet-based bleeding using combined exome sequencing and RNAseq murine expression data

Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

Optimised insert design for improved single-molecule imaging and quantification through CRISPR-Cas9 mediated knock-in

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.

Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

Potential genetic causes of miscarriage in euploid pregnancies: a systematic review

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease

Role of the novel endoribonuclease SLFN14 and its disease causing mutations in ribosomal degradation

SLFN14 gene mutations associated with bleeding

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

STAT2 deficiency and susceptibility to viral illness in humans

Schlafen 14 (SLFN14) is a novel antiviral factor involved in the control of viral replication.

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

Variable presentation of primary immune deficiency: two cases with CD3 gamma deficiency presenting with only autoimmunity

What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?

Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

Whole-exome-sequencing-based discovery of human FADD deficiency