Detalhe da pesquisa
1.
Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.
Genet Med
; 24(2): 454-462, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906510
2.
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Genet Med
; 23(5): 856-864, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33500567
3.
The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 1961-1968, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34120153
4.
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hum Mutat
; 41(9): 1577-1587, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516855
5.
Regulation of platelet function and thrombosis by omega-3 and omega-6 polyunsaturated fatty acids.
Prostaglandins Other Lipid Mediat
; 139: 10-18, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30266534
6.
Case 28-2019: A 22-Year-Old Woman with Dyspnea and Chest Pain.
N Engl J Med
; 381(11): 1059-1067, 2019 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31509678
7.
Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 2014, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34408292
8.
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.
bioRxiv
; 2024 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38370830
9.
Personalized Cancer Monitoring Assay for the Detection of ctDNA in Patients with Solid Tumors.
Mol Diagn Ther
; 27(6): 753-768, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632661
10.
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
J Mol Diagn
; 23(5): 589-598, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33631351
11.
Recognizing genetic disease: A key aspect of pediatric pulmonary care.
Pediatr Pulmonol
; 55(7): 1794-1809, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533909
12.
The future is here: Integrating genetics into the pediatric pulmonary clinic.
Pediatr Pulmonol
; 55(7): 1810-1818, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533912
13.
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
JAMA Netw Open
; 3(4): e203959, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347951
14.
Characterization of hemostasis in mice lacking the novel thrombosis susceptibility gene Slc44a2.
Thromb Res
; 171: 155-159, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30312801
15.
The expansive role of oxylipins on platelet biology.
J Mol Med (Berl)
; 95(6): 575-588, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28528513
16.
Do mesenchymal stromal cell infusions advance the understanding and treatment options of FLNA-associated pulmonary disease?
Pediatr Pulmonol
; 55(2): 270-271, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31746552
17.
New insights into pulmonary hemorrhage.
Pediatr Investig
; 3(4): 207-208, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32851323