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1.
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Cell
; 167(5): 1415-1429.e19, 2016 11 17.
Article
in English
| MEDLINE | ID: mdl-27863252
2.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32581362
3.
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
J Med Genet
; 59(9): 906-911, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-34493544
4.
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
; 49(D1): D1207-D1217, 2021 01 08.
Article
in English
| MEDLINE | ID: mdl-33264411
5.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
; 149(1): 369-378, 2022 01.
Article
in English
| MEDLINE | ID: mdl-33991581
6.
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency.
J Clin Immunol
; 42(3): 582-596, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35028801
7.
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Blood
; 134(23): 2082-2091, 2019 12 05.
Article
in English
| MEDLINE | ID: mdl-31064749
8.
Thrombomodulin in patients with mild to moderate bleeding tendency.
Haemophilia
; 27(6): 1028-1036, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-34628704
9.
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.
Am J Respir Crit Care Med
; 201(5): 575-585, 2020 03 01.
Article
in English
| MEDLINE | ID: mdl-31661308
10.
Traffic exposures, air pollution and outcomes in pulmonary arterial hypertension: a UK cohort study analysis.
Eur Respir J
; 53(5)2019 05.
Article
in English
| MEDLINE | ID: mdl-30923185
11.
HGVA: the Human Genome Variation Archive.
Nucleic Acids Res
; 45(W1): W189-W194, 2017 07 03.
Article
in English
| MEDLINE | ID: mdl-28535294
12.
Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension.
Circulation
; 135(5): 460-475, 2017 01 31.
Article
in English
| MEDLINE | ID: mdl-27881557
13.
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Circulation
; 136(21): 2022-2033, 2017 11 21.
Article
in English
| MEDLINE | ID: mdl-28972005
14.
Next-generation sequencing: a challenge to meet the increasing demand for training workshops in Australia.
Brief Bioinform
; 14(5): 563-74, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23543352
15.
Assemblathon 1: a competitive assessment of de novo short read assembly methods.
Genome Res
; 21(12): 2224-41, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-21926179
16.
Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.
Front Immunol
; 14: 1215869, 2023.
Article
in English
| MEDLINE | ID: mdl-37781402
17.
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.
Genome Med
; 14(1): 44, 2022 04 28.
Article
in English
| MEDLINE | ID: mdl-35484572
18.
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Blood Adv
; 6(7): 2444-2451, 2022 04 12.
Article
in English
| MEDLINE | ID: mdl-34920454
19.
Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency.
Blood Adv
; 5(2): 391-398, 2021 01 26.
Article
in English
| MEDLINE | ID: mdl-33496735
20.
The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity.
Sci Immunol
; 5(49)2020 07 10.
Article
in English
| MEDLINE | ID: mdl-32646852