Detalhe da pesquisa
1.
Highly accurate quantification of allelic gene expression for population and disease genetics.
Genome Res
; 2022 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35794008
2.
Identification of human mitochondrial RNA cleavage sites and candidate RNA processing factors.
BMC Biol
; 20(1): 168, 2022 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869520
3.
Variation in the mutation rate across mammalian genomes.
Nat Rev Genet
; 12(11): 756-66, 2011 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21969038
4.
A haplotype-based normalization technique for the analysis and detection of allele specific expression.
BMC Bioinformatics
; 17(1): 364, 2016 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27618913
5.
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
EMBO Rep
; 15(7): 766-74, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24928908
6.
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.
PLoS Genet
; 9(9): e1003815, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24086152
7.
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
J Med Genet
; 50(5): 324-9, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23423984
8.
Selective constraint, background selection, and mutation accumulation variability within and between human populations.
BMC Genomics
; 14: 495, 2013 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23875710
9.
ensemblQueryR: fast, flexible and high-throughput querying of Ensembl LD API endpoints in R.
GigaByte
; 2023: 1-10, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37732134
10.
The large-scale distribution of somatic mutations in cancer genomes.
Hum Mutat
; 33(1): 136-43, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21953857
11.
Cryptic variation in the human mutation rate.
PLoS Biol
; 7(2): e1000027, 2009 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-19192947
12.
Genetic variation at mouse and human ribosomal DNA influences associated epigenetic states.
Genome Biol
; 23(1): 54, 2022 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35164830
13.
Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease.
Commun Biol
; 4(1): 1262, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34737414
14.
Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes.
Commun Biol
; 3(1): 147, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32221480
15.
Intellectual disability-associated factor Zbtb11 cooperates with NRF-2/GABP to control mitochondrial function.
Nat Commun
; 11(1): 5469, 2020 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33122634
16.
Nuclear genetic regulation of the human mitochondrial transcriptome.
Elife
; 82019 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30775970
17.
Gene-by-environment interactions in urban populations modulate risk phenotypes.
Nat Commun
; 9(1): 827, 2018 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29511166
18.
Relaxed Selection During a Recent Human Expansion.
Genetics
; 208(2): 763-777, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29187508
19.
Graduate capabilities for health service managers: reconfiguring health management education @UNSW.
Aust Health Rev
; 31(3): 379-84, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17669060
20.
Integrated genomic analysis of mitochondrial RNA processing in human cancers.
Genome Med
; 9(1): 36, 2017 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28420414