Detalhe da pesquisa
1.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Am J Hum Genet
; 105(2): 302-316, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256877
2.
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
Ann Neurol
; 90(2): 239-252, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34048612
3.
Complete Chromosome-Scale Genome Sequence Resource for Sporisorium panici-leucophaei, the Causal Agent of Sourgrass Smut Disease.
Mol Plant Microbe Interact
; 34(4): 448-452, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369501
4.
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Genet Med
; 23(4): 661-668, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420346
5.
High-Quality Draft Genome Sequence Resources of Eight Xylella fastidiosa Strains Isolated from Citrus, Coffee, Plum, and Hibiscus in South America.
Phytopathology
; 110(11): 1751-1755, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32520631
6.
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
J Neurol Neurosurg Psychiatry
; 94(5): 405-408, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36737246
7.
Correspondence on "A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes" by Seaby et al.
Genet Med
; 24(12): 2591-2592, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36098740
8.
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
Hum Mol Genet
; 23(15): 4103-10, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24647604
9.
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.
J Med Genet
; 52(2): 123-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25527630
10.
Building the sugarcane genome for biotechnology and identifying evolutionary trends.
BMC Genomics
; 15: 540, 2014 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-24984568
11.
Towards accurate indel calling for oncopanel sequencing through an international pipeline competition at precisionFDA.
Sci Rep
; 14(1): 8165, 2024 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38589653
12.
Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: Two hearing-impaired duplication carriers (USPi006-A e USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A).
Stem Cell Res
; 71: 103181, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595341
13.
Exploring the Schistosoma mansoni adult male transcriptome using RNA-seq.
Exp Parasitol
; 132(1): 22-31, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21745473
14.
New Insights into the Identity of the DFNA58 Gene.
Genes (Basel)
; 13(12)2022 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553541
15.
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Sci Rep
; 12(1): 4190, 2022 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35264596
16.
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Sci Rep
; 12(1): 15184, 2022 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36071085
17.
Genomic epidemiology of the SARS-CoV-2 epidemic in Brazil.
Nat Microbiol
; 7(9): 1490-1500, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35982313
18.
Genomic monitoring of the SARS-CoV-2 B1.1.7 (WHO VOC Alpha) in the Sao Paulo state, Brazil.
Virus Res
; 308: 198643, 2022 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34848213
19.
Genomic epidemiology reveals the impact of national and international restrictions measures on the SARS-CoV-2 epidemic in Brazil.
medRxiv
; 2022 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35378755
20.
Correction: Lesbon et al. Nucleocapsid (N) Gene Mutations of SARS-CoV-2 Can Affect Real-Time RT-PCR Diagnostic and Impact False-Negative Results. Viruses 2021, 13, 2474.
Viruses
; 14(9)2022 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36146888