Detalhe da pesquisa
1.
Studying the impact of translational genomic research: Lessons from eMERGE.
Am J Hum Genet
; 110(7): 1021-1033, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37343562
2.
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Am J Hum Genet
; 110(11): 1950-1958, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883979
3.
Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.
Genet Med
; 25(9): 100906, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246632
4.
Trans-ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study.
Alzheimers Dement
; 19(12): 5765-5772, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37450379
5.
Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach.
BMC Genomics
; 23(1): 385, 2022 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35590255
6.
Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.
Genet Med
; 24(10): 2123-2133, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35943490
7.
Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium.
Metabolomics
; 18(12): 101, 2022 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36459297
8.
Improved genetic risk scoring algorithm for type 1 diabetes prediction.
Pediatr Diabetes
; 23(3): 320-323, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997821
9.
Genomic considerations for FHIR®; eMERGE implementation lessons.
J Biomed Inform
; 118: 103795, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33930535
10.
Participant choices for return of genomic results in the eMERGE Network.
Genet Med
; 22(11): 1821-1829, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32669677
11.
Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization.
World J Surg
; 44(1): 84-94, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31605180
12.
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.
BMC Med
; 17(1): 135, 2019 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31311600
13.
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.
Genet Med
; 21(9): 2135-2144, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890783
14.
Leveraging electronic health records to assess the role of ADRB2 single nucleotide polymorphisms in predicting exacerbation frequency in asthma patients.
Pharmacogenet Genomics
; 28(11): 256-259, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334910
15.
The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.
Neuroimage
; 124(Pt B): 1115-1119, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25840117
16.
Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction.
Diabetes Obes Metab
; 23(8): 2001-2003, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33950547
17.
Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions.
BMC Med Res Methodol
; 16(1): 162, 2016 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27881091
18.
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.
BMC Musculoskelet Disord
; 17: 80, 2016 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26879370
19.
Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.
BMC Musculoskelet Disord
; 17(1): 462, 2016 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27829420
20.
The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative.
J Child Psychol Psychiatry
; 56(12): 1356-1369, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25858255