Detalhe da pesquisa
1.
Iron homeostasis governs erythroid phenotype in polycythemia vera.
Blood
; 141(26): 3199-3214, 2023 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928379
2.
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry
; 28(4): 1647-1663, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36117209
3.
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Brain
; 146(12): 5086-5097, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37977818
4.
Self-reported impact of developmental stuttering across the lifespan.
Dev Med Child Neurol
; 64(10): 1297-1306, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35307825
5.
A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.
Am J Physiol Lung Cell Mol Physiol
; 321(1): L130-L143, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909500
6.
Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci.
Mol Psychiatry
; 25(10): 2392-2409, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30617275
7.
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Genet Med
; 21(11): 2532-2542, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036918
8.
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry
; 28(4): 1664-1666, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36658335
9.
Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.
Thorax
; 71(6): 501-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917578
10.
Causal and synthetic associations of variants in the SERPINA gene cluster with alpha1-antitrypsin serum levels.
PLoS Genet
; 9(8): e1003585, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23990791
11.
The Association Between Stuttering Burden and Psychosocial Aspects of Life in Adults.
J Speech Lang Hear Res
; 67(5): 1385-1399, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38625147
12.
Haemoglobin thresholds to define anaemia from age 6 months to 65 years: estimates from international data sources.
Lancet Haematol
; 11(4): e253-e264, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38432242
13.
Statistical haemoglobin thresholds to define anaemia across the lifecycle.
medRxiv
; 2023 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37292786
14.
A common human MLKL polymorphism confers resistance to negative regulation by phosphorylation.
Nat Commun
; 14(1): 6046, 2023 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37770424
15.
Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids.
Dev Cell
; 57(6): 820-836.e6, 2022 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35303433
16.
Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.
Commun Biol
; 4(1): 274, 2021 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33654266
17.
Rare and low-frequency exonic variants and gene-by-smoking interactions in pulmonary function.
Sci Rep
; 11(1): 19365, 2021 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34588469
18.
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.
Neurology
; 94(20): e2148-e2167, 2020 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32345733
19.
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
Nat Commun
; 11(1): 3150, 2020 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32561755
20.
Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
Nat Genet
; 51(6): 1067, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31110354