Detalhe da pesquisa
1.
Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease.
Cell
; 185(26): 4937-4953.e23, 2022 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563664
2.
Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution.
Cell
; 184(19): 5053-5069.e23, 2021 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34390642
3.
Identification of constrained sequence elements across 239 primate genomes.
Nature
; 625(7996): 735-742, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030727
4.
De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.
Hum Genomics
; 16(1): 55, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36357925
5.
Stepwise Generation of Human Induced Pluripotent Stem Cell-Derived Cardiac Pericytes to Model Coronary Microvascular Dysfunction.
Circulation
; 147(6): 515-518, 2023 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745700
6.
DeepBipolar: Identifying genomic mutations for bipolar disorder via deep learning.
Hum Mutat
; 38(9): 1217-1224, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28600868
7.
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
Hum Mutat
; 38(9): 1182-1192, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28634997
8.
Transcription factor stoichiometry, motif affinity and syntax regulate single-cell chromatin dynamics during fibroblast reprogramming to pluripotency.
bioRxiv
; 2023 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873116
9.
The landscape of tolerated genetic variation in humans and primates.
Science
; 380(6648): eabn8153, 2023 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37262156
10.
The landscape of tolerated genetic variation in humans and primates.
bioRxiv
; 2023 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37205491
11.
Author Correction: Predicting the clinical impact of human mutation with deep neural networks.
Nat Genet
; 51(2): 364, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30559491
12.
Predicting the clinical impact of human mutation with deep neural networks.
Nat Genet
; 50(8): 1161-1170, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30038395