Detalhe da pesquisa
1.
Current challenges and opportunities for pharmacogenomics: perspective of the Industry Pharmacogenomics Working Group (I-PWG).
Hum Genet
; 141(6): 1165-1173, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34081195
2.
Towards realizing the vision of precision medicine: AI based prediction of clinical drug response.
Brain
; 144(6): 1738-1750, 2021 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33734308
3.
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Brain
; 144(9): 2879-2891, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687210
4.
Capturing total steroid burden in patients with atopic dermatitis and asthma.
Allergy Asthma Proc
; 43(5): 454-460, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36065113
5.
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.
J Clin Immunol
; 36(5): 462-71, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27076228
6.
Multiplex ligation-dependent probe amplification copy number variant analysis in patients with acquired long QT syndrome.
Europace
; 17(4): 635-41, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25564553
7.
An isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn's disease with defective antimicrobial activity.
Nat Commun
; 15(1): 4529, 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38806456
8.
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Lancet Haematol
; 11(2): e114-e126, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38302222
9.
Artificial intelligence-based clustering and characterization of Parkinson's disease trajectories.
Sci Rep
; 13(1): 2897, 2023 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36801900
10.
A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion.
Elife
; 122023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36722855
11.
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.
Nat Commun
; 13(1): 4112, 2022 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35840571
12.
Effect of CYP2C19 and ABCB1 single nucleotide polymorphisms on outcomes of treatment with ticagrelor versus clopidogrel for acute coronary syndromes: a genetic substudy of the PLATO trial.
Lancet
; 376(9749): 1320-8, 2010 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20801498
13.
A role for the pregnane X receptor in flucloxacillin-induced liver injury.
Hepatology
; 51(5): 1656-64, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20222094
14.
Sclerostin Downregulation Globally by Naturally Occurring Genetic Variants, or Locally in Atherosclerotic Plaques, Does Not Associate With Cardiovascular Events in Humans.
J Bone Miner Res
; 36(7): 1326-1339, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33784435
15.
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Nat Commun
; 11(1): 5341, 2020 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087723
16.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
J Clin Invest
; 130(1): 108-125, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31550240
17.
Ticagrelor yields consistent dose-dependent inhibition of ADP-induced platelet aggregation in patients with atherosclerotic disease regardless of genotypic variations in P2RY12, P2RY1, and ITGB3.
Platelets
; 20(5): 341-8, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19637098
18.
Clinical spectrum of STX1B-related epileptic disorders.
Neurology
; 92(11): e1238-e1249, 2019 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737342
19.
Genetic data do not provide evidence that lower sclerostin is associated with increased risk of atherosclerosis: comment on the article by Zheng et al.
Arthritis Rheumatol
; 2023 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37942677
20.
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
Elife
; 62017 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28414270