Detalhe da pesquisa
1.
The human mitochondrial transcriptome.
Cell
; 146(4): 645-58, 2011 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-21854988
2.
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
Am J Hum Genet
; 105(5): 996-1004, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587869
3.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Am J Hum Genet
; 105(2): 413-424, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327508
4.
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Brain
; 144(12): 3597-3610, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415310
5.
Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms.
Am J Hum Genet
; 102(5): 816-831, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706353
6.
Workplace stress, common mental disorder and suicidal ideation in junior doctors.
Intern Med J
; 51(7): 1074-1080, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33135841
7.
Help-seeking for depression among Australian doctors.
Intern Med J
; 51(12): 2069-2077, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32833296
8.
'The hardest job I've ever done': a qualitative exploration of the factors affecting junior doctors' mental health and well-being during medical training in Australia.
BMC Health Serv Res
; 21(1): 1342, 2021 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906133
9.
Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage.
Am J Hum Genet
; 101(2): 255-266, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777932
10.
Identification of miR-29b targets using 3-cyanovinylcarbazole containing mimics.
RNA
; 24(4): 597-608, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29246928
11.
Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants.
Am J Kidney Dis
; 76(2): 282-287, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31810733
12.
Improved definition of the mouse transcriptome via targeted RNA sequencing.
Genome Res
; 26(5): 705-16, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27197243
13.
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Am J Hum Genet
; 96(4): 675-81, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25817015
14.
Genome-wide discovery of human splicing branchpoints.
Genome Res
; 25(2): 290-303, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25561518
15.
Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing.
Nat Methods
; 12(4): 339-42, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25751143
16.
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
Brain
; 140(12): 3105-3111, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29186371
17.
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Neurogenetics
; 18(4): 185-194, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28842795
18.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Am J Hum Genet
; 105(3): 672-674, 2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491411
19.
Whole exome sequencing in patients with white matter abnormalities.
Ann Neurol
; 79(6): 1031-1037, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159321
20.
A de novo mutation in the ß-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Am J Hum Genet
; 92(5): 767-73, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23582646