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1.
Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget's disease of bone.
Ann Rheum Dis
; 83(4): 529-536, 2024 Mar 12.
Article
in English
| MEDLINE | ID: mdl-38123339
2.
Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants.
Am J Respir Crit Care Med
; 207(9): 1194-1202, 2023 05 01.
Article
in English
| MEDLINE | ID: mdl-36602845
3.
Integrative multi-omics analysis reveals novel idiopathic pulmonary fibrosis endotypes associated with disease progression.
Respir Res
; 24(1): 141, 2023 May 31.
Article
in English
| MEDLINE | ID: mdl-37344825
4.
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Clin Endocrinol (Oxf)
; 96(4): 499-512, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34558728
5.
Identification and Prognosis of Patients With Interstitial Pneumonia With Autoimmune Features.
J Clin Rheumatol
; 28(5): 257-264, 2022 08 01.
Article
in English
| MEDLINE | ID: mdl-35697042
6.
Integrated plasma proteomics and lung transcriptomics reveal novel biomarkers in idiopathic pulmonary fibrosis.
Respir Res
; 22(1): 273, 2021 Oct 24.
Article
in English
| MEDLINE | ID: mdl-34689792
7.
Lung Innate Lymphoid Cell Composition Is Altered in Primary Graft Dysfunction.
Am J Respir Crit Care Med
; 201(1): 63-72, 2020 01 01.
Article
in English
| MEDLINE | ID: mdl-31394048
8.
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.
Ann Intern Med
; 173(12): 989-1001, 2020 12 15.
Article
in English
| MEDLINE | ID: mdl-32894695
9.
Skeletal muscle adiposity and outcomes in candidates for lung transplantation: a lung transplant body composition cohort study.
Thorax
; 75(9): 801-804, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32482837
10.
Relationship between neuropsychiatric disorders and cognitive and behavioural change in MND.
J Neurol Neurosurg Psychiatry
; 91(3): 245-253, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31871139
11.
Postreperfusion plasma endothelial activation markers are associated with acute kidney injury after lung transplantation.
Am J Transplant
; 19(8): 2366-2373, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31017370
12.
The association of post-lung transplant acute kidney injury with mortality is independent of primary graft dysfunction: A cohort study.
Clin Transplant
; 33(10): e13678, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31355953
13.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Nature
; 493(7432): 406-10, 2013 Jan 17.
Article
in English
| MEDLINE | ID: mdl-23242139
14.
Quantitative Evidence for Revising the Definition of Primary Graft Dysfunction after Lung Transplant.
Am J Respir Crit Care Med
; 197(2): 235-243, 2018 01 15.
Article
in English
| MEDLINE | ID: mdl-28872353
15.
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
Genet Med
; 20(12): 1575-1582, 2018 12.
Article
in English
| MEDLINE | ID: mdl-29565421
16.
Patients' Views of Treatment-Focused Genetic Testing (TFGT): Some Lessons for the Mainstreaming of BRCA1 and BRCA2 Testing.
J Genet Couns
; 2018 May 11.
Article
in English
| MEDLINE | ID: mdl-29752676
17.
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hum Mol Genet
; 24(18): 5079-92, 2015 Sep 15.
Article
in English
| MEDLINE | ID: mdl-26082470
18.
Diastolic Dysfunction Increases the Risk of Primary Graft Dysfunction after Lung Transplant.
Am J Respir Crit Care Med
; 193(12): 1392-400, 2016 06 15.
Article
in English
| MEDLINE | ID: mdl-26745666
19.
Genetic testing and reproductive choice in neurological disorders.
Pract Neurol
; 17(4): 275-281, 2017 Aug.
Article
in English
| MEDLINE | ID: mdl-28512206
20.
Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions.
Mol Cell Probes
; 30(4): 218-224, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27288208