Detalhe da pesquisa
1.
Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis.
Am J Hum Genet
; 108(2): 284-294, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33421400
2.
Predicting Pancreatic Cancer in the UK Biobank Cohort Using Polygenic Risk Scores and Diabetes Mellitus.
Gastroenterology
; 162(6): 1665-1674.e2, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35065983
3.
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Hum Genet
; 140(4): 593-607, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33095315
4.
Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts.
Breast Cancer Res Treat
; 181(2): 423-434, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32279280
5.
Prediction and clinical utility of a contralateral breast cancer risk model.
Breast Cancer Res
; 21(1): 144, 2019 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31847907
6.
Exome sequence read depth methods for identifying copy number changes.
Brief Bioinform
; 16(3): 380-92, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25169955
7.
Nonlinear effects of environment on childhood asthma susceptibility.
Pediatr Allergy Immunol
; 33(4): e13777, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470933
8.
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
Carcinogenesis
; 35(5): 1012-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24325915
9.
Age-related loss of chromosome Y is associated with levels of sex hormone binding globulin and clonal hematopoiesis defined by TET2, TP53, and CBL mutations.
Sci Adv
; 9(16): eade9746, 2023 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37083525
10.
The clinical impact and molecular biology of del(17p) in multiple myeloma treated with conventional or thalidomide-based therapy.
Genes Chromosomes Cancer
; 50(10): 765-74, 2011 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21961181
11.
Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.
Leukemia
; 36(2): 507-515, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413458
12.
Integration of Genomic Risk Scores to Improve the Prediction of Childhood Asthma Diagnosis.
J Pers Med
; 12(1)2022 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35055391
13.
Development of childhood asthma prediction models using machine learning approaches.
Clin Transl Allergy
; 11(9): e12076, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34841728
14.
Clonal myelopoiesis in the UK Biobank cohort: ASXL1 mutations are strongly associated with smoking.
Leukemia
; 34(10): 2660-2672, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518416
15.
Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer.
JCO Precis Oncol
; 42020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32923877
16.
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.
Kidney Int
; 75(4): 415-9, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19037252
17.
PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia.
Leukemia
; 33(5): 1184-1194, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30573780
18.
Recurrent activating STAT5B N642H mutation in myeloid neoplasms with eosinophilia.
Leukemia
; 33(2): 415-425, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30573779
19.
The genomic landscape and clonal evolutionary trajectory of classical hairy cell leukemia.
Leukemia
; 37(4): 929-933, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36709352
20.
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
J Clin Oncol
; 33(4): 304-11, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25452441