Detalhe da pesquisa
1.
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
Hum Mol Genet
; 33(8): 724-732, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271184
2.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hum Mutat
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084291
3.
A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone.
Genet Med
; 20(1): 132-141, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726810
4.
Germline pathogenic variants identified in women with ovarian tumors.
Gynecol Oncol
; 151(3): 481-488, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30322717
5.
Disclosing Pleiotropic Effects During Genetic Risk Assessment for Alzheimer Disease: A Randomized Trial.
Ann Intern Med
; 164(3): 155-63, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26810768
6.
Expanded genetic screening panel for the Ashkenazi Jewish population.
Genet Med
; 18(5): 522-8, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26334176
7.
Cancer risk assessment using genetic panel testing: considerations for clinical application.
J Genet Couns
; 23(4): 604-17, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599651
8.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
medRxiv
; 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38854136
9.
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.
Cancer Res
; 83(15): 2557-2571, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253112
10.
Mothers' perspectives on their child's mental illness as compared to other complex disorders in their family: insights to inform genetic counseling practice.
J Genet Couns
; 21(4): 564-72, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22089936
11.
Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
Clin Cancer Res
; 28(17): 3742-3751, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35736817
12.
Response to Zlotogora and Meiner.
Genet Med
; 18(5): 530, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26656652
13.
"I know what you told me, but this is what I think:" perceived risk of Alzheimer disease among individuals who accurately recall their genetics-based risk estimate.
Genet Med
; 12(4): 219-27, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20139767
14.
A new scale measuring psychologic impact of genetic susceptibility testing for Alzheimer disease.
Alzheimer Dis Assoc Disord
; 23(1): 50-6, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19266699
15.
Perceptions of familial risk in those seeking a genetic risk assessment for Alzheimer's disease.
J Genet Couns
; 18(2): 130-6, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18949541
16.
Genetic counseling practice analysis.
J Genet Couns
; 18(3): 205-16, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19277852
17.
Disclosing the disclosure: factors associated with communicating the results of genetic susceptibility testing for Alzheimer's disease.
J Health Commun
; 14(8): 768-84, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20029710
18.
Co-Care: A Registry for Individuals at Increased Risk for Colorectal Cancer.
J Registry Manag
; 44(1): 11-6, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29595940
19.
Newborn screening for treatable genetic conditions: past, present and future.
Obstet Gynecol Clin North Am
; 37(1): 11-21, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20494254
20.
The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study.
Eur J Hum Genet
; 18(12): 1296-301, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20664629