Detalhe da pesquisa
1.
Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.
Am J Hum Genet
; 111(6): 1061-1083, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723632
2.
The impact of coding germline variants on contralateral breast cancer risk and survival.
Am J Hum Genet
; 110(3): 475-486, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36827971
3.
Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer.
Hum Mol Genet
; 31(15): 2483-2497, 2022 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35157032
4.
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.
Am J Hum Genet
; 108(7): 1190-1203, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34146516
5.
Revisiting the association of sudden infant death syndrome (SIDS) with polymorphisms of NHE3 and IL13.
Int J Legal Med
; 138(3): 743-749, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091065
6.
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.
J Med Genet
; 60(12): 1186-1197, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451831
7.
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.
Hum Mutat
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725546
8.
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk.
Am J Hum Genet
; 107(5): 837-848, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022221
9.
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.
J Clin Immunol
; 43(8): 2136-2145, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794136
10.
Polymorphisms of the hypothalamic-pituitary-adrenal axis may lead to an inadequate response to stress and contribute to sudden infant death syndrome.
Acta Paediatr
; 112(7): 1478-1484, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945818
11.
Clinical parameters affecting survival outcomes in patients with low-grade serous ovarian carcinoma: an international multicentre analysis.
Can J Surg
; 66(3): E310-E320, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369443
12.
Common variants in breast cancer risk loci predispose to distinct tumor subtypes.
Breast Cancer Res
; 24(1): 2, 2022 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34983606
13.
Causation and causal inference in obstetrics-gynecology.
Am J Obstet Gynecol
; 226(1): 12-23, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34991897
14.
Variants in genes encoding the SUR1-TRPM4 non-selective cation channel and sudden infant death syndrome (SIDS): potentially increased risk for cerebral edema.
Int J Legal Med
; 136(4): 1113-1120, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474489
15.
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
J Med Genet
; 58(5): 305-313, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32546565
16.
Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study.
Br J Sports Med
; 56(20): 1157-1170, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36328784
17.
Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment.
Breast Cancer Res
; 23(1): 86, 2021 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34407845
18.
Association of genomic variants at PAX8 and PBX2 with cervical cancer risk.
Int J Cancer
; 2021 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33905146
19.
Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer.
Int J Cancer
; 148(2): 307-319, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32851660
20.
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers.
Br J Cancer
; 124(4): 842-854, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495599