Detalhe da pesquisa
1.
Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background.
Genet Med
; 21(3): 727-735, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29976988
2.
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Genet Med
; 21(4): 987-993, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181607
3.
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.
Hum Mutat
; 39(11): 1713-1720, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311373
4.
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Hum Mutat
; 39(11): 1614-1622, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311389
5.
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.
Hum Mutat
; 39(11): 1677-1685, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311382
6.
Early biochemical response to parathyroidectomy for primary hyperparathyroidism and its predictive value for recurrent hypercalcemia and recurrent primary hyperparathyroidism.
Surgery
; 169(1): 120-125, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32768241
7.
Bearing Witness to Grief.
Acad Med
; 98(5): 542-544, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36512820