Detalhe da pesquisa
1.
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
PLoS Genet
; 17(10): e1009848, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662339
2.
In heart failure reactivation of RNA-binding proteins is associated with the expression of 1,523 fetal-specific isoforms.
PLoS Comput Biol
; 18(2): e1009918, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35226669
3.
Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model.
Hum Mutat
; 42(2): 189-199, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252167
4.
Parechovirus-A3 encephalitis presenting with focal seizure mimicking herpes simplex virus infection.
J Infect Chemother
; 26(7): 736-740, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32201195
5.
A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
Hum Mol Genet
; 26(23): 4741-4751, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973684
6.
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
Hum Genet
; 137(6-7): 447-458, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29978320
7.
Dynamic epigenetic regulation of glioblastoma tumorigenicity through LSD1 modulation of MYC expression.
Proc Natl Acad Sci U S A
; 112(30): E4055-64, 2015 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-26159421
8.
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.
Physiol Genomics
; 48(12): 922-927, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27764769
9.
Effective filtering strategies to improve data quality from population-based whole exome sequencing studies.
BMC Bioinformatics
; 15: 125, 2014 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24884706
10.
Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing.
Bioinformatics
; 29(15): 1908-9, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23712659
11.
Complex regulatory networks influence pluripotent cell state transitions in human iPSCs.
Nat Commun
; 15(1): 1664, 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38395976
12.
Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.
Breast Cancer Res
; 15(6): R115, 2013 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24326041
13.
Fine mapping spatiotemporal mechanisms of genetic variants underlying cardiac traits and disease.
Nat Commun
; 14(1): 1132, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36854752
14.
eQTL mapping in fetal-like pancreatic progenitor cells reveals early developmental insights into diabetes risk.
Nat Commun
; 14(1): 6928, 2023 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37903777
15.
Analysis of regulatory network modules in hundreds of human stem cell lines reveals complex epigenetic and genetic factors contribute to pluripotency state differences between subpopulations.
bioRxiv
; 2023 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37292794
16.
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues.
Cell Rep
; 37(7): 110020, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34762851
17.
Insights into genetic factors contributing to variability in SARS-CoV-2 susceptibility and COVID-19 disease severity.
medRxiv
; 2021 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34013287
18.
An iPSC line derived from a human acute myeloid leukemia cell line (HL-60-iPSC) retains leukemic abnormalities and displays myeloid differentiation defects.
Stem Cell Res
; 49: 102096, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33370871
19.
Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats.
Nat Commun
; 11(1): 2928, 2020 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32522985
20.
Properties of structural variants and short tandem repeats associated with gene expression and complex traits.
Nat Commun
; 11(1): 2927, 2020 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32522982