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Ilenia Simeoni · SciRah

Researcher profile · Semantic Scholar

Ilenia Simeoni

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Ilenia Simeoni — researcher profile on SciRah

h-index: 17
Works: 47
Citations: 1,833

Most-cited papers

Whole-Genome Sequencing identifies loss-of-function variants in NFKB1 as the most common monogenic cause of Common Variable Immunodeficiency in Europeans
P. Tuijnenburg, H. Lango Allen, Siobhan O. Burns, D. Greene +26 more
2018Journal of Allergy and Clinical Immunology203 citations Open access
Semantic Scholar
Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders.
K. Downes, Karyn Megy, Daniel Duarte, Minka J. A. Vries +33 more
2019Blood191 citations Open access
Semantic Scholar
Whole genome sequencing of a sporadic primary immunodeficiency cohort
James E. D. Thaventhiran, H. Allen, O. Burren, W. Rae +55 more
2020Nature189 citations Open access
Semantic Scholar
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Ilenia Simeoni, J. Stephens, Fengyuan Hu, S. Deevi +75 more
2016Blood176 citations Open access
Semantic Scholar
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
S. Westbury, E. Turro, D. Greene, C. Lentaigne +36 more
2015Genome Medicine150 citations Open access
Semantic Scholar
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Simon Stritt, P. Nurden, E. Turro, D. Greene +41 more
2016Blood145 citations Open access
Semantic Scholar
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
E. Turro, D. Greene, Anouck Wijgaerts, C. Thys +39 more
2016Science Translational Medicine130 citations Open access
Semantic Scholar
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Tiziana Lorenzini, M. Fliegauf, N. Klammer, N. Frede +234 more
2020Journal of Allergy and Clinical Immunology123 citations Open access
Semantic Scholar
Distinct Epigenomic Features in End-Stage Failing Human Hearts
Mehregan Movassagh, M. Choy, David A. Knowles, L. Cordeddu +10 more
2011Circulation102 citations Open access
Semantic Scholar
Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH
K. Megy, K. Downes, Ilenia Simeoni, L. Bury +10 more
2019Journal of Thrombosis and Haemostasis77 citations Open access
Semantic Scholar
Mutational and phenotypic characterisation of hereditary hemorrhagic telangiectasia.
C. Shovlin, Ilenia Simeoni, K. Downes, Zoe Frazer +13 more
2020Blood67 citations Open access
Semantic Scholar
Development and validation of a universal blood donor genotyping platform: a multinational prospective study.
Nicholas S. Gleadall, B. Veldhuisen, J. Gollub, A. Butterworth +36 more
2020Blood Advances57 citations Open access
Semantic Scholar
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia
S. Sivapalaratnam, S. Westbury, J. Stephens, D. Greene +21 more
2016Blood47 citations Open access
Semantic Scholar
αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia
Lorena Buitrago, A. Rendon, Yupu Liang, Ilenia Simeoni +4 more
2015Proceedings of the National Academy of Sciences of the United States of America42 citations Open access
Semantic Scholar
Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
L. Bury, K. Megy, J. Stephens, Luigi Grassi +33 more
2019Human Mutation37 citations Open access
Semantic Scholar
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations
W. Rae, J. Sowerby, Dorit Verhoeven, M. Youssef +33 more
2022Science immunology32 citations
Semantic Scholar
PIGO deficiency: palmoplantar keratoderma and novel mutations
M. Morren, J. Jaeken, G. Visser, I. Salles +5 more
2017Orphanet Journal of Rare Diseases17 citations Open access
Semantic Scholar
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease
E. Staples, Ilenia Simeoni, J. Stephens, H. Allen +12 more
2020Clinical Immunology13 citations Open access
Semantic Scholar
Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.
P. Tuijnenburg, H. Lango Allen, G. D. de Bree, S. Savic +7 more
2019Clinical Immunology8 citations Open access
Semantic Scholar
The role of genetic sequencing in the diagnostic workup for chronic immune thrombocytopenia
Nehal Joshi, H. Lango Allen, Kate Downes, Ilenia Simeoni +5 more
2025Blood Advances7 citations
Semantic Scholar
GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies
Ilenia Simeoni, O. Shamardina, S. Deevi, M. Thomas +20 more
2018bioRxiv6 citations Open access
Semantic Scholar
A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding, thrombotic and platelet
Ilenia Simeoni, J. Stephens, Fengyuan Hu, S. Deevi +86 more
20166 citations
Semantic Scholar
Practical challenges for functional validation of STAT1 gain of function genetic variants
A. Albuquerque, J. Maimaris, A. McKenna, J. Lambourne +7 more
2023Clinical and Experimental Immunology3 citations Open access
Semantic Scholar
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort
James E. D. Thaventhiran, H. Lango Allen, O. Burren, W. Rae +55 more
2020Nature3 citations Open access
Semantic Scholar
Whole Genome Sequencing of Primary Immunodeficiency reveals a role for common and rare variants in coding and non-coding sequences
James E. D. Thaventhiran, H. Allen, O. Burren, W. Rae +55 more
2018bioRxiv3 citations Open access
Semantic Scholar
A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding , thrombotic and platelet disorders
Ilenia Simeoni, J. Stephens, Fengyuan Hu, S. Deevi +73 more
20153 citations
Semantic Scholar
Iconography : Loss-of-function nuclear factor ?B subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
P. Tuijnenburg, H. Allen, Siobhan O. Burns, D. Greene +26 more
20182 citations
Semantic Scholar
Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans.
P. Tuijnenburg, H. Allen, S. Burns, D. Greene +26 more
20181 citations
Semantic Scholar
PLATELETS AND THROMBOPOIESIS A gain-of-function variant in DIAPH 1 causes dominant macrothrombocytopenia and hearing loss
Simon Stritt, P. Nurden, E. Turro, D. Greene +41 more
20161 citations
Semantic Scholar
A gain-of-function DIAPH1 variant causes dominant macrothrombocytopenia and hearing loss
Simon Stritt, P. Nurden, E. Turro, D. Greene +49 more
20151 citations
Semantic Scholar
αIIbβ3 Variants Defined By Next Generation Sequencing: Implications for Predicting Variants Likely to Cause Glanzmann Thrombasthenia and Alloimmune Disorders
Claudia Lorena Buitrago, A. Rendon, E. Turro, Yupu Liang +5 more
20141 citations
Semantic Scholar
Changes in practice within a haematological malignancy diagnostic service: A 5‐year retrospective study
Jake Tobin, Caoimhe Egan, David Bloxham, Emma J Gudgin +8 more
2024British Journal of Haematology0 citations
Semantic Scholar
1 Whole genome sequencing of a sporadic primary immunodeficiency cohort 2
J. Thaventhiran, H. Allen, O. Burren, William Rae +67 more
20200 citations
Semantic Scholar
1 Whole genome sequencing of a sporadic primary immunodeficiency cohort 2
J. Thaventhiran, H. Allen, O. Burren, William Rae +63 more
20200 citations
Semantic Scholar
1 Whole genome sequencing of a sporadic primary immunodeficiency cohort 2
J. Thaventhiran, H. Allen, O. Burren, William Rae +63 more
20200 citations
Semantic Scholar
proplatelet formation causing thrombocytopenia Sphingolipid dysregulation due to lack of functional KDSR impairs Version 3 HAEMATOL / 2018 / 204784
Haematologica, Warner, H. Watson, S. Westbury +89 more
20190 citations
Semantic Scholar
Mendelian randomization analysis of red cell distribution width in pulmonary arterial hypertension
Romina Petersen, A. Pyle, Stuart Rankin, Anupama K. Rao +108 more
20190 citations
Semantic Scholar
Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders
Kate Downes, K. Megy, Daniel Duarte, Minka J. A. Vries +33 more
2018bioRxiv0 citations Open access
Semantic Scholar
THROMBOSIS AND HEMOSTASIS A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Ilenia Simeoni, J. Stephens, Fengyuan Hu, S. Deevi +75 more
20160 citations
Semantic Scholar
THROMBOSIS AND HEMOSTASIS A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Ilenia Simeoni, J. Stephens, Fengyuan Hu, S. Deevi +75 more
20160 citations
Semantic Scholar
THROMBOSIS AND HEMOSTASIS A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Ilenia Simeoni, J. Stephens, Fengyuan Hu, S. Deevi +75 more
20160 citations
Semantic Scholar
THROMBOSIS AND HEMOSTASIS A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Ilenia Simeoni, J. Stephens, Fengyuan Hu, S. Deevi +75 more
20160 citations
Semantic Scholar
THROMBOSIS AND HEMOSTASIS A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Ilenia Simeoni, J. Stephens, Fengyuan Hu, S. Deevi +75 more
20160 citations
Semantic Scholar
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorderdisorders. Blood,
Ilenia Simeoni, J. Stephens, Fengyuan Hu, S. Deevi +75 more
20160 citations
Semantic Scholar
THROMBOSIS AND HEMOSTASIS A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Ilenia Simeoni, J. Stephens, Fengyuan Hu, S. Deevi +75 more
20160 citations
Semantic Scholar
THROMBOSIS AND HEMOSTASIS A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Ilenia Simeoni, J. Stephens, Fengyuan Hu, S. Deevi +75 more
20160 citations
Semantic Scholar
THROMBOSIS AND HEMOSTASIS A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Ilenia Simeoni, J. Stephens, Fengyuan Hu, S. Deevi +75 more
20160 citations
Semantic Scholar

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