N. Morgan

P. Corris, R. Trembath, J. Loyd, 2001, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

CHRNG genotype–phenotype correlations in the multiple pterygium syndromes

R. Touraine, S. Holder, J. Fryns, 2011, Journal of Medical Genetics.

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

Y. Choi, Sarah J. Fletcher, N. Morgan, 2017, Immunobiology.

Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes

P. Heath, B. Wagner, N. Morgan, 2022, Haematologica.

A common Fanconi anemia mutation in black populations of sub-Saharan Africa.

C. Lewis, C. Mathew, T. de Ravel, 2005, Blood.

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

C. Mathew, T. de Ravel, R. Gibson, 2001, Proceedings of the National Academy of Sciences of the United States of America.

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

N. Morgan, Abdullah O. Khan, A. Khan, 2020, Human mutation.

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

M. Simpson, S. Watson, M. Lordkipanidzé, 2013, Blood.

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

D. Chitayat, S. Watson, M. Donowitz, 2010, Gastroenterology.

Evaluation of the Total Thrombus-Formation System (T-TAS): application to human and mouse blood analysis Short title: Evaluation of T-TAS in assessing clot formation

Y. Senis, Z. Nagy, H. Philippou, 2018 .

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

L. Hesson, M. Yao, R. Grundy, 2003, Oncogene.

Initiation codon mutation in βB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract

E. Stone, R. Trembath, F. Rahman, 2009, Molecular vision.

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

Anna L. Brown, S. Fröhling, G. Natsoulis, 2021, Haematologica.

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis

W. Ouwehand, K. Downes, D. Trégouët, 2021, Journal of thrombosis and haemostasis : JTH.

New insights into glycoprotein Ibα desialylation-mediated platelet clearance

N. Poulter, N. Morgan, J. Yule, 2020, Platelets.

The calcium-independent phospholipase A2 gene, PLA2G6, is mutated in a spectrum of childhood neurodegenerative disorders with high brain iron

Colin A. Johnson, N. Nardocci, R. Trembath, 2006 .

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

Colin A. Johnson, J. Tolmie, H. Brunner, 2006, American journal of human genetics.

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

C. Mathew, Q. Waisfisz, R. Gibson, 1999, Nature Genetics.

Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease

P. Devilee, R. Trembath, M. Knowles, 2010, PLoS genetics.

CD3G Gene Defects in Familial Autoimmune Thyroiditis

İ. Reisli, N. Morgan, H. Artaç, 2014, Scandinavian journal of immunology.

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

İ. Reisli, N. Morgan, Isabel Sánchez Guiú, 2013, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9

C. Mathew, M. Thiel, H. Kayserili, 2000, European Journal of Human Genetics.

Post-Translational Polymodification of β1 Tubulin Regulates Motor Protein Localisation in Platelet Production and Function

Jeremy A. Pike, N. Morgan, Abdullah O. Khan, 2019, SSRN Electronic Journal.

Post-translational polymodification of the C-terminal tail of TUBB1 regulates motor protein processivity in platelet production and function

Jeremy A. Pike, N. Morgan, Abdullah O. Khan, 2019, bioRxiv.

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

Colin A. Johnson, N. Nardocci, R. Trembath, 2006, Nature Genetics.

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

I. Scheffer, J. Cross, F. Rahman, 2010, Brain : a journal of neurology.

Positional cloning of the Fanconi anaemia group A gene

C. Mathew, D. Easton, G. Lennon, 1996, Nature Genetics.

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

Paul Gissen, Shu-Yuan Cheng, M. Reith, 2009, The Journal of clinical investigation.

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

Colin A. Johnson, S. Watson, R. Trembath, 2006, American journal of human genetics.

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

P. R. Elliott, D. Komander, A. McKenzie, 2016, Cell.

A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13

P. Scambler, R. Trembath, I. Casteels, 2003, Journal of medical genetics.

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

S. Vermeer, J. Cossins, D. Beeson, 2008, American journal of human genetics.

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

H. Moch, P. Schraml, M. Yao, 2001, Cancer research.

Epigenetic Inactivation of the RASSF 1 A 3 p 21 . 3 Tumor Suppressor Gene in Both Clear Cell and Papillary Renal Cell Carcinoma 1

H. Moch, P. Schraml, M. Yao, 2001 .

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

Soo-Mi Park, M. Weiss, K. Stuurman, 2014, Acta neuropathologica communications.

Heterozygous mutation SLFN14 K208N in mice mediates species-specific differences in platelet and erythroid lineage commitment.

S. Watson, Elizabeth J Haining, A. Pisarev, 2021, Blood advances.

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

C. Fallet-Bianco, C. Ricketts, R. Trembath, 2010, American journal of human genetics.

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

D. Beeson, E. Maher, J. Vogt, 2009, Journal of Medical Genetics.

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

S. Mundell, S. Watson, T. Warner, 2014 .

University of Birmingham Novel mutations in RASGRP2 encoding for CalDAG-GEFI abrogate Rap1 activation causing platelet dysfunction

David S. Paul, S. Watson, J. Sondek, 2016 .

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

Sven Kreiborg, Pekka Nieminen, S. Kreiborg, 2011, American journal of human genetics.

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

S. Watson, N. Morgan, M. Daly, 2014, British journal of haematology.

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

Rachel M. Brown, M. Simpson, L. Mulligan, 2016, Human molecular genetics.

Germline TET2 Loss-Of-Function Causes Childhood Immunodeficiency And Lymphoma.

F. Rieux-Laucat, S. Ehl, M. Lako, 2020, Blood.

Genotyping and phenotyping of platelet function disorders

S. Watson, M. Lordkipanidzé, N. Morgan, 2013, Journal of thrombosis and haemostasis : JTH.

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

J. Thachil, M. Williams, N. Morgan, 2018, Research and practice in thrombosis and haemostasis.

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.

Wendy N Erber, Chantal Thys, Kate Downes, 2018, Blood advances.

Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding

N. Morgan, I. Almazni, Rachel J. Stapley, 2019, Front. Cardiovasc. Med..

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.

M. Simpson, S. Watson, M. Lordkipanidzé, 2015, The Journal of clinical investigation.

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

M. Simpson, M. Lordkipanidzé, P. Gissen, 2015, Journal of thrombosis and haemostasis : JTH.

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

A. Coomarasamy, N. Morgan, S. Allen, 2019, Human reproduction update.

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

Richard C Trembath, Paul Gissen, Colin A. Johnson, 2004, Nature Genetics.

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

N. Morgan, K. Freson, R. Benito, 2022, Cells.

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

J. Hernández-Rivas, S. Watson, J. González-Porras, 2017, Haematologica.

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

David S. Paul, J. Hernández-Rivas, S. Watson, 2016, Blood.

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

Rachel M. Brown, M. Simpson, R. Trembath, 2013, Orphanet Journal of Rare Diseases.

SLFN14 gene mutations associated with bleeding

A. Pisarev, N. Morgan, V. Pisareva, 2019, Platelets.

University of Birmingham SLFN14 gene mutations associated with bleeding

A. Pisarev, N. Morgan, V. Pisareva, 2019 .

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

Colin A. Johnson, N. Nardocci, R. Trembath, 2006, Nature Genetics.

Loss of heterozygosity mapping at chromosome arm 16q in 712 breast tumors reveals factors that influence delineation of candidate regions.

C. Mathew, A. Cleton-Jansen, D. Callen, 2001, Cancer research.

of Candidate Regions 712 Breast Tumors Reveals Factors that Influence Delineation Loss of Heterozygosity Mapping at Chromosome Arm 16 q in Updated

C. Mathew, A. Cleton-Jansen, C. Cornelisse, 2001 .

Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3

C. Mathew, D. Easton, R. Gibson, 1995, Nature Genetics.

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

Colin A. Johnson, R. Trembath, V. Torres, 2006, Nature Genetics.

Cell-Free DNA in the Investigation of Miscarriage

A. Coomarasamy, S. Quenby, N. Morgan, 2020, Journal of clinical medicine.

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

H. Moch, P. Schraml, M. Yao, 2004, Journal of Clinical Pathology.

Mutation in GNE is associated with severe congenital thrombocytopenia.

M. Simpson, S. Watson, J. Motwani, 2018, Blood.

1 MUTATION IN GNE IS ASSOCIATED WITH A SEVERE FORM OF CONGENITAL THROMBOCYTOPENIA

M. Simpson, S. Watson, J. Motwani, 2018 .

Dual Proteolytic Pathways Govern Glycolysis and Immune Competence

W. Lu, V. Korolchuk, David McDonald, 2014, Cell.

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL

Bryndís Yngvadóttir, E. Reid, L. Tee, 2020, Brain communications.

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

F. Rieux-Laucat, J. Casanova, A. Abhyankar, 2010, American journal of human genetics.

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

S. Watson, G. Dolan, N. Morgan, 2017, Platelets.

Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing

S. Watson, N. Morgan, Annabel Maclachlan, 2016, Platelets.

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

Simi Ali, L. Tee, E. Maher, 2016, Journal of Clinical Immunology.

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

Simi Ali, L. Tee, E. Maher, 2016, Journal of Clinical Immunology.

STAT2 deficiency and susceptibility to viral illness in humans

N. McGovern, P. Ghazal, S. Goodbourn, 2013, Proceedings of the National Academy of Sciences.

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

Colin A. Johnson, R. Hennekam, R. Trembath, 2006, American journal of human genetics.

sub-Saharan Africa A common Fanconi anemia mutation in black populations of

C. Lewis, C. Mathew, I. Demuth, 2013 .

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

Deirdre A. Kelly, Paul Gissen, Colin A. Johnson, 2002, Human Genetics.

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

M. Humbert, R. Trembath, N. Morrell, 2001, The New England journal of medicine.

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

W. Tate, David McDonald, F. Rahman, 2011, The Journal of clinical investigation.

Renal Carcinomas in Clear Cell α Overexpression of Hypoxia-inducible Factor-1 Constitutive Activation of Hypoxia-inducible Genes Related to Updated Version

H. Gröne, K. Eckardt, P. Maxwell, 2001 .

A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder

K. Downes, N. Morgan, K. Freson, 2021, Platelets.

Gene of the issue: RUNX1 mutations and inherited bleeding

N. Morgan, M. Daly, 2017, Platelets.

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

M. Humbert, P. Corris, R. Trembath, 2001, American journal of human genetics.

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

Jeremy A Pike, Steven G Thomas, Natalie S Poulter, 2019, Scientific Reports.

Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases

N. Morgan, W. Stevenson, G. Lowe, 2022, Platelets.

Efficient megakaryopoiesis and platelet production require phospholipid remodeling and PUFA uptake through CD36

P. Meikle, A. Murphy, J. Luyendyk, 2023, bioRxiv.

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

Jeremy A Pike, Steven G Thomas, Jeremy A. Pike, 2017, Scientific Reports.

Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

Michael R. Kendall, M. Karkucak, T. Yakut, 2010, Clinical endocrinology.

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

R. Trembath, M. Kurian, M. S. van der Knaap, 2011, Molecular genetics and metabolism.

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

M. Kurian, A. Brady, E. Maher, 2010, Molecular genetics and metabolism.

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

S. Watson, N. Morgan, P. Harrison, 2018, Platelets.

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

S. Watson, M. Lordkipanidzé, N. Morgan, 2013, Thrombosis and Haemostasis.

A Germline Mutation in BLOC 1 S 3 / Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome ( HPS 8 )

Colin A. Johnson, S. Watson, R. Trembath, 2005 .

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

T. Yakut, O. Ozdemir, M. Kurian, 2009, The Turkish journal of pediatrics.

Inherited ADAMTS13 mutations associated with Thrombotic Thrombocytopenic Purpura: a short review and update.

J. Emsley, N. Morgan, Zoe Markham-Lee, 2022, Platelets.

Initiation codon mutation in CRYBB1 associated with autosomal recessive nuclear pulverulent cataract

E. Stone, R. Trembath, F. Rahman, 2009 .

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

W. Tate, David McDonald, F. Rahman, 2019 .

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

Jeremy A. Pike, N. Morgan, K. Machlus, 2020, Journal of thrombosis and haemostasis : JTH.

Abstracts of the European Congress of Immunology. September 5-8, 2012. Glasgow, Scotland, United Kingdom.

S. Goodbourn, R. Randall, N. Morgan, 2012, Immunology.

Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.

C. Lewis, C. Mathew, T. de Ravel, 2000, Blood.

Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia

I. Vořechovský, S. Hodgson, S. Hodgson, 2004, Leukemia.

Isolation of a cDNA representing the Fanconi anemia complementation group E gene.

N. Alon, C. Mathew, Q. Waisfisz, 2000, American journal of human genetics.

Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A.

C. Mathew, Q. Waisfisz, A. D’Andrea, 2000, American journal of human genetics.

The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.

C. Mathew, Q. Waisfisz, R. Wegner, 1999, American journal of human genetics.

High frequency of large intragenic deletions in the Fanconi anemia group A gene.

C. Mathew, H. Joenje, N. Morgan, 1999, American journal of human genetics.

Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing

S. Watson, N. Morgan, Annabel Maclachlan, 2016, Platelets.

STAT2 deficiency and susceptibility to viral illness in humans

N. McGovern, S. Goodbourn, R. Randall, 2013, Proceedings of the National Academy of Sciences.

A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.

C. Mathew, A. D’Andrea, I. Garcı́a-Higuera, 1999, Experimental hematology.

University of Birmingham Mutation in GNE is associated with a Severe Form of Congenital Thrombocytopenia

M. Simpson, S. Watson, J. Motwani, 2018 .

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

J. Thachil, M. Williams, N. Morgan, 2018, Research and practice in thrombosis and haemostasis.

Mutation in GNE is associated with severe congenital thrombocytopenia.

M. Simpson, S. Watson, J. Motwani, 2018, Blood.

University of Birmingham New insights into Glycoprotein Ib desialylation-mediated platelet clearance

N. Poulter, N. Morgan, J. Yule, 2020 .

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

F. Rieux-Laucat, J. Casanova, A. Abhyankar, 2010, American journal of human genetics.

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

D. Chitayat, S. Watson, M. Donowitz, 2010, Gastroenterology.

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

Y. Senis, Z. Nagy, H. Philippou, 2018, Platelets.

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

J. Thachil, M. Williams, N. Morgan, 2018, Research and practice in thrombosis and haemostasis.

Introduction of an ancient founder glycoprotein VI mutation into the Chilean population

S. Watson, N. Morgan, D. Mezzano, 2022, Blood advances.

Post-translational polymodification of b1-tubulin regulates motor protein localization in platelet production and function

Jeremy A. Pike, N. Morgan, Abdullah O. Khan, 2020, Haematologica.

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

Neil V. Morgan, S. Watson, Jeremy A. Pike, 2019, Haematologica.

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

S. Mundell, S. Watson, T. Warner, 2014 .

O6-1 Loss-of-function mutations in the gene encoding the dopamine transporter, SLC6A3, cause Infantile Parkinsonism Dystonia (IPD)

S. Heales, J. Zhen, M. Kurian, 2009 .