Ilenia Simeoni

发表

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

William J. Astle, Sylvia Richardson, Kathleen Stirrups, 2016, Blood.

PLATELETS AND THROMBOPOIESIS A gain-of-function variant in DIAPH 1 causes dominant macrothrombocytopenia and hearing loss

William J. Astle, Sjoert B. G. Jansen, S. Richardson, 2016 .

A gain-of-function DIAPH1 variant causes dominant macrothrombocytopenia and hearing loss

William J. Astle, Sandrine, S. Richardson, 2015 .

Mendelian randomization analysis of red cell distribution width in pulmonary arterial hypertension

Kenneth G. C. Smith, Andreas C. Themistocleous, K. Stirrups, 2019 .

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

1 Whole genome sequencing of a sporadic primary immunodeficiency cohort 2

Lynch, Gilmour, Sri V. V. Deevi, 2020 .

Development and validation of a universal blood donor genotyping platform: a multinational prospective study.

William J. Astle, Colin J. Brown, Nicholas S. Gleadall, 2020, Blood advances.

Next ‐ generation sequencing for the diagnosis of MYH9 ‐ RD

Sri V. V. Deevi, K. Stirrups, W. Ouwehand, 2019 .

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

Sylvia Richardson, Augusto Rendon, Sjoert B. G. Jansen, 2015, Genome Medicine.

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Sylvia Richardson, Kathleen Stirrups, Wendy N. Erber, 2016, Science Translational Medicine.

Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations

Kenneth G. C. Smith, J. Stephens, T. Vyse, 2022, Science Immunology.

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Crina Samarghitean, Vera Matser, Scott Hackett, 2018, The Journal of allergy and clinical immunology.

Distinct Epigenomic Features in End-Stage Failing Human Hearts

David A. Knowles, P. Lio’, T. Down, 2011, Circulation.

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

William J. Astle, Suthesh Sivapalaratnam, Kathleen Stirrups, 2017, Blood.

αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

W. Ouwehand, A. Rendon, Yupu Liang, 2015, Proceedings of the National Academy of Sciences.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Sri V. V. Deevi, W. Ouwehand, A. Attwood, 2016, Blood.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

W. Ouwehand, K. Downes, P. Reitsma, 2019, Journal of thrombosis and haemostasis : JTH.

ADA2 deficiency complicated by EBV-driven lymphoproliferative disease

Sri V. V. Deevi, H. Firth, J. Stephens, 2020, Clinical immunology.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants

Sri V. V. Deevi, Nicholas S. Gleadall, K. Stirrups, 2019, Human mutation.

Next‐generation sequencing for the diagnosis ofMYH9‐RD

Sri V. V. Deevi, K. Stirrups, W. Ouwehand, 2019 .

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Whole Genome Sequencing of Primary Immunodeficiency reveals a role for common and rare variants in coding and non-coding sequences

Sri V. V. Deevi, Kenneth G. C. Smith, Nicholas S. Gleadall, 2018, bioRxiv.

Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders

Sri V. V. Deevi, Nicholas S. Gleadall, W. Ouwehand, 2018, bioRxiv.

Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans.

Kenneth G. C. Smith, M. Brown, É. Oksenhendler, 2018 .

Mutational and phenotypic characterisation of hereditary hemorrhagic telangiectasia.

W. Ouwehand, K. Downes, C. Penkett, 2020, Blood.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding , thrombotic and platelet disorders

Sri V. V. Deevi, W. Ouwehand, J. Jolley, 2015 .

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

PIGO deficiency: palmoplantar keratoderma and novel mutations

E. Turro, J. Jaeken, K. Freson, 2017, Orphanet Journal of Rare Diseases.

Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.

H. Lango Allen, T. Kuijpers, G. D. de Bree, 2019, Clinical immunology.

GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies

Sri V. V. Deevi, Kenneth G. C. Smith, K. Stirrups, 2018, bioRxiv.

THROMBOSIS AND HEMOSTASIS A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders