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1.
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Am J Hum Genet
; 111(3): 584-593, 2024 Mar 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38417439
2.
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
Am J Hum Genet
; 108(3): 458-468, 2021 03 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33609447
3.
Assessing the use of observational methods and real-world data to emulate ongoing randomized controlled trials.
Clin Trials
; 20(6): 689-698, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37589143
4.
Ultrasound high-definition microvasculature imaging with novel quantitative biomarkers improves breast cancer detection accuracy.
Eur Radiol
; 32(11): 7448-7462, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-35486168
5.
Preserved skeletal muscle oxidative capacity in older adults despite decreased cardiorespiratory fitness with ageing.
J Physiol
; 599(14): 3581-3592, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34032280
6.
Adipose tissue macrophage populations and inflammation are associated with systemic inflammation and insulin resistance in obesity.
Am J Physiol Endocrinol Metab
; 321(1): E105-E121, 2021 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33998291
7.
Early assessment of shear wave elastography parameters foresees the response to neoadjuvant chemotherapy in patients with invasive breast cancer.
Breast Cancer Res
; 23(1): 52, 2021 04 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-33926522
8.
Mutation prevalence tables for hereditary cancer derived from multigene panel testing.
Hum Mutat
; 41(8): e1-e6, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32442341
9.
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Genet Med
; 22(4): 701-708, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31853058
10.
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
Genet Med
; 22(2): 407-415, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31406321
11.
Joint association of mammographic density adjusted for age and body mass index and polygenic risk score with breast cancer risk.
Breast Cancer Res
; 21(1): 68, 2019 05 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-31118087
12.
Systemic treatment and radiotherapy, breast cancer subtypes, and survival after long-term clinical follow-up.
Breast Cancer Res Treat
; 175(2): 287-295, 2019 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-30746635
13.
HIV Protease-Generated Casp8p41, When Bound and Inactivated by Bcl2, Is Degraded by the Proteasome.
J Virol
; 92(13)2018 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29643240
14.
OpenGeneMed: a portable, flexible and customizable informatics hub for the coordination of next-generation sequencing studies in support of precision medicine trials.
Brief Bioinform
; 18(5): 723-734, 2017 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27422621
15.
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genet Med
; 21(1): 71-80, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29884841
16.
Cancer susceptibility gene mutations in type I and II endometrial cancer.
Gynecol Oncol
; 152(1): 20-25, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30612635
17.
Characterizing Potentially Preventable Admissions: A Mixed Methods Study of Rates, Associated Factors, Outcomes, and Physician Decision-Making.
J Gen Intern Med
; 33(5): 737-744, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29340940
18.
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
JAMA
; 319(23): 2401-2409, 2018 06 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-29922827
19.
Temporal shifts in the skin microbiome associated with disease flares and treatment in children with atopic dermatitis.
Genome Res
; 22(5): 850-9, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22310478
20.
Phase I study of the heat shock protein 90 (Hsp90) inhibitor onalespib (AT13387) administered on a daily for 2 consecutive days per week dosing schedule in patients with advanced solid tumors.
Invest New Drugs
; 33(4): 921-30, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-26082332