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
Inglês
| MEDLINE | ID: mdl-36563664
2.
Transcription factor protein interactomes reveal genetic determinants in heart disease.
Cell
; 185(5): 794-814.e30, 2022 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35182466
3.
Radical S-Adenosylmethionine Enzymes in Human Health and Disease.
Annu Rev Biochem
; 85: 485-514, 2016 Jun 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27145839
4.
Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis.
Cell
; 167(7): 1734-1749.e22, 2016 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27984724
5.
Modeling congenital heart disease: lessons from mice, hPSC-based models, and organoids.
Genes Dev
; 36(11-12): 652-663, 2022 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35835508
6.
Integrated multi-omic characterization of congenital heart disease.
Nature
; 608(7921): 181-191, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35732239
7.
STIGMA: Single-cell tissue-specific gene prioritization using machine learning.
Am J Hum Genet
; 111(2): 338-349, 2024 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38228144
8.
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Hum Mol Genet
; 33(2): 150-169, 2024 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37815931
9.
Complex Congenital Heart Disease in the Adult.
Annu Rev Med
; 75: 493-512, 2024 Jan 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38285514
10.
The H2Bub1-deposition complex is required for human and mouse cardiogenesis.
Development
; 150(23)2023 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38038666
11.
Autonomous and non-cell autonomous role of cilia in structural birth defects in mice.
PLoS Biol
; 21(12): e3002425, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38079449
12.
Evolutionary history of MEK1 illuminates the nature of deleterious mutations.
Proc Natl Acad Sci U S A
; 120(34): e2304184120, 2023 08 22.
Artigo
Inglês
| MEDLINE | ID: mdl-37579140
13.
Cardiac progenitors instruct second heart field fate through Wnts.
Proc Natl Acad Sci U S A
; 120(4): e2217687120, 2023 01 24.
Artigo
Inglês
| MEDLINE | ID: mdl-36649430
14.
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.
Proc Natl Acad Sci U S A
; 120(16): e2214997120, 2023 04 18.
Artigo
Inglês
| MEDLINE | ID: mdl-37043537
15.
Mutations in Bcl9 and Pygo genes cause congenital heart defects by tissue-specific perturbation of Wnt/ß-catenin signaling.
Genes Dev
; 32(21-22): 1443-1458, 2018 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30366904
16.
Neurodevelopmental Outcomes for Individuals With Congenital Heart Disease: Updates in Neuroprotection, Risk-Stratification, Evaluation, and Management: A Scientific Statement From the American Heart Association.
Circulation
; 149(13): e997-e1022, 2024 03 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38385268
17.
Extracellular Matrix Disorganization Caused by ADAMTS16 Deficiency Leads to Bicuspid Aortic Valve With Raphe Formation.
Circulation
; 149(8): 605-626, 2024 Feb 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38018454
18.
Role of Epigenetics in Cardiac Development and Congenital Diseases.
Physiol Rev
; 98(4): 2453-2475, 2018 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30156497
19.
Congenital heart defects caused by FOXJ1.
Hum Mol Genet
; 32(14): 2335-2346, 2023 07 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37158461
20.
Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.
Hum Mol Genet
; 32(6): 959-970, 2023 03 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36229919