Detalhe da pesquisa
1.
Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk.
PLoS Genet
; 14(2): e1007111, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29389935
2.
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Hum Mutat
; 41(1): 103-109, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31444830
3.
11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.
Cancer
; 126(13): 3114-3121, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32320050
4.
High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.
Hum Genet
; 137(4): 343-355, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29705978
5.
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.
JAMA
; 318(9): 825-835, 2017 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28873162
6.
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
PLoS Genet
; 9(8): e1003695, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24009516
7.
Characterising the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.
medRxiv
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38766261
8.
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.
Breast Cancer Res
; 15(3): 402, 2013 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23809231
9.
GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.
Pharmacogenet Genomics
; 23(11): 605-10, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24061200
10.
Gene-based Confirmatory Germline Testing Following Tumor-only Sequencing of Prostate Cancer.
Eur Urol
; 83(1): 29-38, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36115772
11.
Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights.
Eur Urol
; 84(1): 127-137, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37210288
12.
SNPs at SMG7 Associated with Time from Biochemical Recurrence to Prostate Cancer Death.
Cancer Epidemiol Biomarkers Prev
; 31(7): 1466-1472, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35511739
13.
Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non-Muscle-Invasive Bladder Cancer.
Clin Cancer Res
; 28(19): 4267-4277, 2022 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833951
14.
Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing.
Eur Urol Oncol
; 4(6): 993-1000, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34654685
15.
Prevalence of Germline Alterations on Targeted Tumor-Normal Sequencing of Esophagogastric Cancer.
JAMA Netw Open
; 4(7): e2114753, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34251444
16.
A Comprehensive Comparison of Early-Onset and Average-Onset Colorectal Cancers.
J Natl Cancer Inst
; 113(12): 1683-1692, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405229
17.
Clonal hematopoiesis is associated with risk of severe Covid-19.
Nat Commun
; 12(1): 5975, 2021 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34645798
18.
Utilization of clinical genetic counseling among childhood and young adult cancer survivors in a registry trial.
J Community Genet
; 11(4): 501-504, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32676930
19.
A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers.
Cancer Res
; 80(17): 3732-3744, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32675277
20.
Clonal hematopoiesis is associated with risk of severe Covid-19.
medRxiv
; 2020 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33269365