Detalhe da pesquisa
1.
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
; 586(7831): 749-756, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087929
2.
Transcriptomic comparison of Drosophila snRNP biogenesis mutants reveals mutant-specific changes in pre-mRNA processing: implications for spinal muscular atrophy.
RNA
; 22(8): 1215-27, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27268418
3.
Genomic diagnostics within a medically underserved population: efficacy and implications.
Genet Med
; 20(1): 31-41, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726809
4.
SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.
PLoS Genet
; 10(8): e1004489, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25144193
5.
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.
Am J Respir Cell Mol Biol
; 55(2): 213-24, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26909801
6.
Developmental arrest of Drosophila survival motor neuron (Smn) mutants accounts for differences in expression of minor intron-containing genes.
RNA
; 19(11): 1510-6, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24006466
7.
Sm proteins specify germ cell fate by facilitating oskar mRNA localization.
Development
; 137(14): 2341-51, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20570937
8.
Clinical outcome data of anxiety patients treated with cannabis-based medicinal products in the United Kingdom: a cohort study from the UK Medical Cannabis Registry.
Psychopharmacology (Berl)
; 240(8): 1735-1745, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37314478
9.
Rare coding variants in CHRNB2 reduce the likelihood of smoking.
Nat Genet
; 55(7): 1138-1148, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308787
10.
Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.
Epilepsia
; 53(8): e151-5, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22780917
11.
Assessment of clinical outcomes of medicinal cannabis therapy for depression: analysis from the UK Medical Cannabis Registry.
Expert Rev Neurother
; 22(11-12): 995-1008, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36573268
12.
Assessment of clinical outcomes in patients with post-traumatic stress disorder: analysis from the UK Medical Cannabis Registry.
Expert Rev Neurother
; 22(11-12): 1009-1018, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36503404
13.
Clinical outcome analysis of patients with autism spectrum disorder: analysis from the UK Medical Cannabis Registry.
Ther Adv Psychopharmacol
; 12: 20451253221116240, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36159065
14.
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Commun Biol
; 5(1): 540, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35661827
15.
ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma.
Commun Biol
; 5(1): 1051, 2022 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36192519
16.
Sm protein methylation is dispensable for snRNP assembly in Drosophila melanogaster.
RNA
; 14(5): 878-87, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18369183
17.
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Nat Commun
; 11(1): 5520, 2020 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33139725
18.
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Science
; 354(6319)2016 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008009
19.
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
F1000Prime Rep
; 7: 36, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25926987
20.
A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects.
Cell Rep
; 1(6): 624-31, 2012 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-22813737