Detalhe da pesquisa
1.
Challenges and Opportunities in Implementing Pharmacogenetic Testing in Clinical Settings.
Annu Rev Pharmacol Toxicol
; 61: 65-84, 2021 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33006916
2.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411040
3.
A luciferase reporter mouse model to optimize in vivo gene editing validated by lipid nanoparticle delivery of adenine base editors.
Mol Ther
; 31(4): 1159-1166, 2023 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36793209
4.
Identification of Drug Transporter Genomic Variants and Inhibitors That Protect Against Doxorubicin-Induced Cardiotoxicity.
Circulation
; 145(4): 279-294, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34874743
5.
Development of a Dose-Adjusted Polygenic Risk Model for Anthracycline-Induced Cardiotoxicity.
Ther Drug Monit
; 45(3): 337-344, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36728273
6.
Systematic Critical Review of Genetic Factors Associated with Cisplatin-induced Ototoxicity: Canadian Pharmacogenomics Network for Drug Safety 2022 Update.
Ther Drug Monit
; 45(6): 714-730, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37726872
7.
Role of Cisplatin Dose Intensity and TPMT Variation in the Development of Hearing Loss in Children.
Ther Drug Monit
; 45(3): 345-353, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917731
8.
Acute kidney injury during cisplatin therapy and associations with kidney outcomes 2 to 6 months post-cisplatin in children: a multi-centre, prospective observational study.
Pediatr Nephrol
; 38(5): 1667-1685, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260162
9.
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region.
J Med Genet
; 59(1): 46-55, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257509
10.
Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease.
Hum Mol Genet
; 29(16): 2788-2802, 2020 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32898862
11.
The cumulative incidence of cisplatin-induced hearing loss in young children is higher and develops at an early stage during therapy compared with older children based on 2052 audiological assessments.
Cancer
; 128(1): 169-179, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490624
12.
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.
Am J Hum Genet
; 104(6): 1116-1126, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104771
13.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Am J Hum Genet
; 105(3): 534-548, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422819
14.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
N Engl J Med
; 380(15): 1433-1441, 2019 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30970188
15.
Lipid-Nanoparticle-Based Delivery of CRISPR/Cas9 Genome-Editing Components.
Mol Pharm
; 19(6): 1669-1686, 2022 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35594500
16.
Patient-specific genetic factors predict treatment failure in sofosbuvir-treated patients with chronic hepatitis C.
Liver Int
; 42(4): 796-808, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35107877
17.
Assessing the role of adolescent hormonal contraceptive use on risk for depression: a 3-year longitudinal study protocol.
BMC Womens Health
; 22(1): 48, 2022 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35197045
18.
A cross-sectional study of the relationship between CYP2D6 and CYP2C19 variations and depression symptoms, for women taking SSRIs during pregnancy.
Arch Womens Ment Health
; 25(2): 355-365, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34231053
19.
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
Neurogenetics
; 22(4): 251-262, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34213677
20.
Prevention of adverse drug effects: a pharmacogenomic approach.
Curr Opin Pediatr
; 32(5): 646-653, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32796162