Detalhe da pesquisa
1.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Am J Hum Genet
; 107(5): 932-941, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108757
2.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 98(6): 1067-1076, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181684
3.
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1100-1110, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287922
4.
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1261-1262, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670880
5.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Genome Res
; 25(3): 305-15, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25637381
6.
Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.
Genet Med
; 19(3): 337-344, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27561086
7.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 99(1): 247, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392081
8.
Bone morphogenetic protein 2mediated mandible reconstruction successfully heals bony defects but inhibits concurrent inferior alveolar nerve grafting: a rabbit experimental model.
J Craniofac Surg
; 25(6): 2241-5, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25340684
9.
Moving to the Middle Ground: Redefining Genomic Utility to Expand Understanding of Familial Benefit.
Ethics Hum Res
; 46(1): 43-48, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240400
10.
The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life.
AJOB Empir Bioeth
; 12(3): 179-189, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33843487
11.
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.
Science
; 320(5875): 539-43, 2008 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-18369103