Detalhe da pesquisa
1.
Evaluating drug targets through human loss-of-function genetic variation.
Nature
; 581(7809): 459-464, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461653
2.
Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.
Eur Respir J
; 61(2)2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36302552
3.
Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study.
PLoS Med
; 19(5): e1003981, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35587468
4.
Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension.
Eur Respir J
; 59(3)2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34588193
5.
Author Correction: Evaluating drug targets through human loss-of-function genetic variation.
Nature
; 590(7846): E56, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33536628
6.
Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome.
Am J Respir Crit Care Med
; 202(4): 586-594, 2020 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32352834
7.
Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension.
Eur Respir J
; 55(2)2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31744833
8.
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.
Hum Mol Genet
; 26(21): 4301-4313, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973304
9.
Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children.
Am J Hum Genet
; 98(6): 1092-1100, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236921
10.
Genetics and genomics of pulmonary arterial hypertension.
Eur Respir J
; 53(1)2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30545973
11.
The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension.
Eur Respir J
; 53(3)2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655285
12.
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.
Nature
; 498(7453): 232-5, 2013 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23698362
13.
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
Hum Mol Genet
; 25(9): 1836-45, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26945007
14.
Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data.
Am J Med Genet B Neuropsychiatr Genet
; 177(7): 641-657, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30325587
15.
Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease.
EMBO J
; 32(9): 1225-37, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23481255
16.
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
Am J Hum Genet
; 94(5): 790-7, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24791904
17.
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Hum Mutat
; 37(11): 1157-1161, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27492651
18.
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Hum Mutat
; 36(12): 1113-27, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26387786
19.
De novo mutations in MLL cause Wiedemann-Steiner syndrome.
Am J Hum Genet
; 91(2): 358-64, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22795537
20.
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
Am J Hum Genet
; 90(2): 290-4, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265017