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D. Greene · SciRah

Researcher profile · Semantic Scholar

D. Greene

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D. Greene — researcher profile on SciRah

h-index: 27
Works: 64
Citations: 3,643

Most-cited papers

The Human Phenotype Ontology in 2017
S. Köhler, N. Vasilevsky, M. Engelstad, Erin Foster +55 more
2016Nucleic Acids Res.748 citations Open access
Semantic Scholar
Whole-genome sequencing of patients with rare diseases in a national health system
E. Turro, W. Astle, K. Megy, S. Gräf +59 more
2020Nature502 citations Open access
Semantic Scholar
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
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
S. Spencer, Sevgi Kostel Bal, W. Egner, H. Lango Allen +34 more
2019Journal of Experimental Medicine172 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
ontologyX: A suite of R packages for working with ontological data
D. Greene, S. Richardson, E. Turro
2016Bioinform.142 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
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders
D. Greene, C. Thys, I. Berry, Joanna Jarvis +4 more
2024Nature Medicine92 citations Open access
Semantic Scholar
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases
D. Greene, S. Richardson, E. Turro
2016American Journal of Human Genetics72 citations Open access
Semantic Scholar
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
D. Greene, D. Pirri, K. Frudd, E. Sackey +29 more
2023Nature Medicine68 citations Open access
Semantic Scholar
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
Matthew C. Sims, Louisa Mayer, Janine H. Collins, T. Bariana +60 more
2020medRxiv48 citations Open access
Semantic Scholar
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome
Jessica Heremans, J. Garcia-Perez, E. Turro, Susan M. Schlenner +17 more
2018Journal of Allergy and Clinical Immunology47 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
A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases
D. Greene, S. Richardson, E. Turro
2017American Journal of Human Genetics45 citations Open access
Semantic Scholar
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
S. Westbury, M. Canault, D. Greene, E. Bermejo +17 more
2017Blood44 citations Open access
Semantic Scholar
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data
Nikolas Pontikos, Yu Jing, Ismail Moghul, Lucy Withington +20 more
2017Bioinform.43 citations Open access
Semantic Scholar
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia
T. Bariana, V. Labarque, Jessica Heremans, C. Thys +18 more
2018Haematologica38 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
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases
Thiloka E. Ratnaike, D. Greene, Wei Wei, A. Sanchis-Juan +6 more
2021Nucleic Acids Research36 citations Open access
Semantic Scholar
Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension
E. Świetlik, D. Greene, N. Zhu, Karyn Megy +55 more
2020Circulation Genomic and Precision Medicine36 citations Open access
Semantic Scholar
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.
C. Lentaigne, D. Greene, S. Sivapalaratnam, R. Favier +26 more
2019Blood34 citations Open access
Semantic Scholar
A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets
Manisha Padmakumar, J. Jaeken, V. Ramaekers, L. Lagae +8 more
2019JIMD Reports27 citations Open access
Semantic Scholar
Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia.
Naomi Cornish, M. Aungraheeta, L. Fitzgibbon, K. Burley +7 more
2020Blood Advances19 citations Open access
Semantic Scholar
Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function
M. Chan, Melissa A. Hayman, S. Sivapalaratnam, M. Crescente +21 more
2020Haematologica10 citations Open access
Semantic Scholar
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease
Felix Richter, Kayleigh Rutherford, Anisha J. Cooke, M. Meshkati +21 more
2024American Journal of Kidney Diseases8 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
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.
H. Hengel, Shabab B. Hannan, S. Reich, D. Beijer +31 more
2025Brain : a journal of neurology4 citations Open access
Semantic Scholar
Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension
E. Świetlik, D. Greene, N. Zhu, K. Megy +53 more
2019bioRxiv4 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
Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data
N. Pontikos, Jing Yu, F. Blanco-Kelly, T. Vulliamy +16 more
2016bioRxiv3 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
Genetic association analysis of 269 rare diseases reveals novel aetiologies
D. Greene, G. E. Research Consortium, D. Pirri, K. Frudd +29 more
2022medRxiv1 citations Open access
Semantic Scholar
Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia
Rachel C. Peck, S. Westbury, L. Fitzgibbon, N. Morgan +8 more
20201 citations Open access
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
Methods for Determining the Genetic Causes of Rare Diseases
D. Greene
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
580 MitoPhen: A human phenotype ontology-based tool to identify mitochondrial DNA disease
Thiloka E. Ratnaike, D. Greene, Ida Paramanov, L. Matalonga +5 more
2022Abstracts0 citations Open access
Semantic Scholar
Late Breaking Abstract - Convergence of clinical and computational phenotypes for rare variant association study (RVAS) in pulmonary arterial hypertension
E. Świetlik, D. Greene, K. Auckland, T. Tilly +4 more
2021Pulmonary hypertension0 citations
Semantic Scholar
New rare variant associations with distinct phenotypes in patients with pulmonary arterial hypertension revealed with Bayesian inference
E. Świetlik, K. Lutz, D. Greene, M. Pauciulo +13 more
20200 citations
Semantic Scholar
NIHR BioResource (2020). Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia. Blood Advances , 4 (5), 920-924.
Naomi Cornish, M. Aungraheeta, L. Fitzgibbon, K. Burley +8 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
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

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