Detalhe da pesquisa
1.
A transcriptional switch governs fibroblast activation in heart disease.
Nature
; 595(7867): 438-443, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163071
2.
High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy.
Am J Hum Genet
; 110(10): 1648-1660, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37673065
3.
BRD4 (Bromodomain-Containing Protein 4) Interacts with GATA4 (GATA Binding Protein 4) to Govern Mitochondrial Homeostasis in Adult Cardiomyocytes.
Circulation
; 142(24): 2338-2355, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33094644
4.
Reports from the fifth edition of CAGI: The Critical Assessment of Genome Interpretation.
Hum Mutat
; 40(9): 1197-1201, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31334884
5.
VIPdb, a genetic Variant Impact Predictor Database.
Hum Mutat
; 40(9): 1202-1214, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31283070
6.
Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge.
Hum Mutat
; 40(9): 1392-1399, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209948
7.
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.
Hum Mutat
; 40(9): 1330-1345, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31144778
8.
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5.
Hum Mutat
; 40(9): 1474-1485, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260570
9.
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer.
Hum Mutat
; 40(9): 1612-1622, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31241222
10.
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.
Hum Mutat
; 40(9): 1519-1529, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31342580
11.
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.
J Med Genet
; 54(4): 269-277, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27811305
12.
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
Neurogenetics
; 18(2): 111-117, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28229249
13.
Functional screening in human HSPCs identifies optimized protein-based enhancers of Homology Directed Repair.
Nat Commun
; 15(1): 2625, 2024 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38521763
14.
Microbiome preterm birth DREAM challenge: Crowdsourcing machine learning approaches to advance preterm birth research.
Cell Rep Med
; 5(1): 101350, 2024 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38134931
15.
Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy.
J Clin Invest
; 133(18)2023 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37490339
16.
VMAP: Vaginal Microbiome Atlas During Pregnancy.
medRxiv
; 2023 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993193
17.
Microbiome Preterm Birth DREAM Challenge: Crowdsourcing Machine Learning Approaches to Advance Preterm Birth Research.
medRxiv
; 2023 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945505
18.
Reports from CAGI: The Critical Assessment of Genome Interpretation.
Hum Mutat
; 38(9): 1039-1041, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28817245
19.
Crowdsourcing assessment of maternal blood multi-omics for predicting gestational age and preterm birth.
Cell Rep Med
; 2(6): 100323, 2021 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34195686
20.
Transcriptomics-based drug repositioning pipeline identifies therapeutic candidates for COVID-19.
Sci Rep
; 11(1): 12310, 2021 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34112877