Detalhe da pesquisa
1.
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
Genome Res;
30(8): 1170-1180, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32817165
2.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med;
24(1): 130-145, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34906502
3.
Bayesian estimation of a semiparametric recurrent event model with applications to the penetrance estimation of multiple primary cancers in Li-Fraumeni syndrome.
Biostatistics;
21(3): 467-482, 2020 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30445420
4.
The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome.
Genet Med;
19(9): 1064-1070, 2017 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28301458
5.
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Cancers (Basel);
15(20)2023 Oct 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37894291
6.
Early onset HER2-positive breast cancer is associated with germline TP53 mutations.
Cancer;
118(4): 908-13, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21761402
7.
Penetrance Estimates Over Time to First and Second Primary Cancer Diagnosis in Families with Li-Fraumeni Syndrome: A Single Institution Perspective.
Cancer Res;
80(2): 347-353, 2020 01 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31719099
8.
Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts.
Cancer Res;
80(2): 354-360, 2020 01 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31719101
9.
Li-Fraumeni Exploration Consortium Data Coordinating Center: Building an Interactive Web-Based Resource for Collaborative International Cancer Epidemiology Research for a Rare Condition.
Cancer Epidemiol Biomarkers Prev;
29(5): 927-935, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32156722
10.
Bayesian Semiparametric Estimation of Cancer-specific Age-at-onset Penetrance with Application to Li-Fraumeni Syndrome.
J Am Stat Assoc;
114(526): 541-552, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31485091
11.
Whole body magnetic resonance imaging (WB-MRI) and brain MRI baseline surveillance in TP53 germline mutation carriers: experience from the Li-Fraumeni Syndrome Education and Early Detection (LEAD) clinic.
Fam Cancer;
17(2): 287-294, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28988289
12.
Estimating TP53 Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO.
Cancer Epidemiol Biomarkers Prev;
26(6): 837-844, 2017 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28137790
13.
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.
JAMA Oncol;
3(12): 1634-1639, 2017 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28772291