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Alvaro N Monteiro

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Articles 52
Citations 1397
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Recent Articles
1.
Ugalde-Morales E, Wilf R, Pluta J, Ploner A, Fan M, Damra M, et al.
Am J Hum Genet . 2025 Feb; 112(3):630-643. PMID: 39999848
Transcriptome-wide association studies (TWASs) have the potential to identify susceptibility genes associated with testicular germ cell tumors (TGCTs). We conducted a comprehensive TGCT TWAS by integrating genome-wide association study (GWAS)...
2.
Richardson M, Holdren M, Brannan T, de la Hoya M, Spurdle A, Tavtigian S, et al.
Am J Hum Genet . 2024 Sep; 111(11):2411-2426. PMID: 39317201
The ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer (HBOP) Variant Curation Expert Panel (VCEP) is composed of internationally recognized experts in clinical genetics, molecular biology, and variant interpretation. This VCEP...
3.
Parsons M, de la Hoya M, Richardson M, Tudini E, Anderson M, Berkofsky-Fessler W, et al.
Am J Hum Genet . 2024 Aug; 111(9):2044-2058. PMID: 39142283
The ENIGMA research consortium develops and applies methods to determine clinical significance of variants in hereditary breast and ovarian cancer genes. An ENIGMA BRCA1/2 classification sub-group, formed in 2015 as...
4.
Richardson M, Holdren M, Brannan T, de la Hoya M, Spurdle A, Tavtigian S, et al.
medRxiv . 2024 Jun; PMID: 38854136
The ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer (HBOP) Variant Curation Expert Panel (VCEP) is composed of internationally recognized experts in clinical genetics, molecular biology and variant interpretation. This VCEP...
5.
Zanti M, OMahony D, Parsons M, Li H, Dennis J, Aittomakkiki K, et al.
Hum Mutat . 2024 May; 2023. PMID: 38725546
A large number of variants identified through clinical genetic testing in disease susceptibility genes, are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and...
6.
Dareng E, Coetzee S, Tyrer J, Peng P, Rosenow W, Chen S, et al.
Am J Hum Genet . 2024 May; 111(6):1061-1083. PMID: 38723632
To identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981...
7.
Nepomuceno T, Lyra P, Zhu J, Yi F, Martin R, Lupu D, et al.
JCO Clin Cancer Inform . 2024 May; 8:e2300251. PMID: 38709234
Purpose: The emergence of large real-world clinical databases and tools to mine electronic medical records has allowed for an unprecedented look at large data sets with clinical and epidemiologic correlates....
8.
Barnes D, Tyrer J, Dennis J, Leslie G, Bolla M, Lush M, et al.
medRxiv . 2024 Mar; PMID: 38496424
Background: Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of (CIMBA),...
9.
Ramachandran D, Tyrer J, Kommoss S, DeFazio A, Riggan M, Webb P, et al.
NPJ Genom Med . 2024 Mar; 9(1):19. PMID: 38443389
Survival from ovarian cancer depends on the resection status after primary surgery. We performed genome-wide association analyses for resection status of 7705 ovarian cancer patients, including 4954 with high-grade serous...
10.
DeVries A, Dennis J, Tyrer J, Peng P, Coetzee S, Reyes A, et al.
J Natl Cancer Inst . 2022 Oct; 114(11):1533-1544. PMID: 36210504
Background: Known risk alleles for epithelial ovarian cancer (EOC) account for approximately 40% of the heritability for EOC. Copy number variants (CNVs) have not been investigated as EOC risk alleles...