Detalhe da pesquisa
1.
Molecular design of hypothalamus development.
Nature
; 582(7811): 246-252, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499648
2.
Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline.
Hum Mol Genet
; 31(23): 4075-4086, 2022 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35849052
3.
A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand.
Nucleic Acids Res
; 50(18): 10264-10277, 2022 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130228
4.
Secondary structure of the human mitochondrial genome affects formation of deletions.
BMC Biol
; 21(1): 103, 2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158879
5.
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection.
Genome Res
; 28(1): 1-10, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29237728
6.
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Am J Hum Genet
; 101(4): 564-577, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965845
7.
Domains of genome-wide gene expression dysregulation in Down's syndrome.
Nature
; 508(7496): 345-50, 2014 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24740065
8.
mtProtEvol: the resource presenting molecular evolution analysis of proteins involved in the function of Vertebrate mitochondria.
BMC Evol Biol
; 19(Suppl 1): 47, 2019 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30813887
9.
ImtRDB: a database and software for mitochondrial imperfect interspersed repeats annotation.
BMC Genomics
; 20(Suppl 3): 295, 2019 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31284879
10.
Correction to: ImtRDB: a database and software for mitochondrial imperfect interspersed repeats annotation.
BMC Genomics
; 20(1): 556, 2019 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31286882
11.
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication.
Genome Res
; 26(2): 174-82, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26755635
12.
Biased allelic expression in human primary fibroblast single cells.
Am J Hum Genet
; 96(1): 70-80, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557783
13.
Gene age predicts the strength of purifying selection acting on gene expression variation in humans.
Am J Hum Genet
; 95(6): 660-74, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480033
14.
Corrigendum: Domains of genome-wide gene expression dysregulation in Down's syndrome.
Nature
; 531(7594): 400, 2016 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633627
15.
Genetic and epigenetic regulation of human lincRNA gene expression.
Am J Hum Genet
; 93(6): 1015-26, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268656
16.
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
Genome Res
; 23(9): 1410-21, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23783273
17.
Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes.
Mol Biol Evol
; 30(2): 347-55, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22983951
18.
Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positive.
Mitochondrion
; 74: 101817, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37914096
19.
Repeats, longevity and the sources of mtDNA deletions: evidence from 'deletional spectra'.
Trends Genet
; 26(8): 340-3, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20591530
20.
Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene.
Genes (Basel)
; 14(3)2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980992