Detalhe da pesquisa
1.
Somatic genomic changes in single Alzheimer's disease neurons.
Nature;
604(7907): 714-722, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35444284
2.
Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain.
Proc Natl Acad Sci U S A;
117(25): 13886-13895, 2020 06 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32522880
3.
Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals.
PLoS Genet;
15(4): e1008043, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30973874
4.
A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations.
Genome Res;
28(7): 943-951, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29875290
5.
APP gene copy number changes reflect exogenous contamination.
Nature;
584(7821): E20-E28, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32814883
6.
Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs.
PLoS Genet;
14(5): e1007395, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29763432
7.
Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.
Am J Hum Genet;
98(4): 789-95, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27058448
8.
MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.
Nucleic Acids Res;
45(10): e76, 2017 Jun 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28132024
9.
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.
Hum Mutat;
38(8): 1002-1013, 2017 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28503910
10.
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.
Hum Mutat;
36(9): 861-72, 2015 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26096185
11.
Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma.
Am J Hum Genet;
98(6): 1271, 2016 06 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27259057
12.
Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia.
bioRxiv;
2024 Jan 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38260600
13.
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.
bioRxiv;
2023 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38077003
14.
Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex.
bioRxiv;
2023 Nov 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37986891
15.
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
JAMA Neurol;
80(6): 578-587, 2023 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37126322
16.
Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity.
Nat Aging;
2(8): 714-725, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36051457
17.
Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders.
Nat Commun;
13(1): 5918, 2022 10 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36207339
18.
Identification of Somatic Mutations From Bulk and Single-Cell Sequencing Data.
Front Aging;
2: 800380, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35822012
19.
MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations.
BMC Med Genomics;
14(1): 47, 2021 02 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33579278
20.
SMAD4 represses FOSL1 expression and pancreatic cancer metastatic colonization.
Cell Rep;
36(4): 109443, 2021 07 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34320363