Detalhe da pesquisa
1.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Br J Cancer
; 128(12): 2283-2294, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076566
2.
Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB.
J Med Genet
; 59(3): 243-247, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443076
3.
Cystic fibrosis F508del carriers and cancer risk: Results from the UK Biobank.
Int J Cancer
; 148(7): 1658-1664, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300603
4.
Flype: Software for enabling personalized medicine.
Am J Med Genet C Semin Med Genet
; 187(1): 37-47, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33270363
5.
Observed evidence for guideline-recommended genes in predicting prostate cancer risk from a large population-based cohort.
Prostate
; 81(13): 1002-1008, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34254341
6.
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 199, 2021 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34404389
7.
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Genet Med
; 23(9): 1726-1737, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113011
8.
Germline HOXB13 G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank.
Br J Cancer
; 123(9): 1356-1359, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32830201
9.
BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.
Hum Mutat
; 40(10): 1781-1796, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31112363
10.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet
; 25(11): 2256-2268, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008870
11.
Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.
Hum Mutat
; 37(1): 84-97, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26462740
12.
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
Breast Cancer Res
; 18(1): 15, 2016 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26857456
13.
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 288, 2021 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34732190
14.
Nipple-sparing mastectomy in BRCA1/2 mutation carriers: an interim analysis and review of the literature.
Ann Surg Oncol
; 22(2): 370-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25023546
15.
Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 148(2): 397-406, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25311111
16.
Association of Reported Candidate Monogenic Genes With Lung Cancer Risk.
Clin Lung Cancer
; 24(4): 313-321, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36781323
17.
Refining Risk for Alzheimer's Disease Among Heterozygous APOEÉ4 Carriers.
J Alzheimers Dis
; 94(2): 483-489, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334598
18.
Utility of Polygenic Scores for Differentiating Diabetes Diagnosis Among Patients With Atypical Phenotypes of Diabetes.
J Clin Endocrinol Metab
; 109(1): 107-113, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37560999
19.
Personalized medicine in a community health system: the NorthShore experience.
Front Genet
; 14: 1308738, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38090148
20.
Cancer-associated thrombosis by cancer sites and inherited factors in a prospective population-based cohort.
Thromb Res
; 229: 69-72, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37419004