Detalhe da pesquisa
1.
Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding.
Am J Hum Genet
; 110(3): 427-441, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36787739
2.
Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity.
Am J Hum Genet
; 109(12): 2210-2229, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36423637
3.
Cell-type-specific meQTLs extend melanoma GWAS annotation beyond eQTLs and inform melanocyte gene-regulatory mechanisms.
Am J Hum Genet
; 108(9): 1631-1646, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34293285
4.
A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR.
Am J Hum Genet
; 108(9): 1611-1630, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34343493
5.
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
Blood
; 140(8): 909-921, 2022 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35776903
6.
Joint associations between established genetic susceptibility loci, pesticide exposures, and risk of prostate cancer.
Environ Res
; 237(Pt 2): 117063, 2023 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37659638
7.
Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17.
Hum Mutat
; 43(12): 1856-1859, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36116037
8.
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
Hum Mutat
; 43(10): 1396-1407, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35762214
9.
The oral microbiome and breast cancer and nonmalignant breast disease, and its relationship with the fecal microbiome in the Ghana Breast Health Study.
Int J Cancer
; 151(8): 1248-1260, 2022 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35657343
10.
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Pediatr Res
; 92(6): 1671-1680, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322185
11.
Aflatoxin levels and prevalence of TP53 aflatoxin-mutations in hepatocellular carcinomas in Mexico.
Salud Publica Mex
; 64(1): 35-40, 2022 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35438902
12.
Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia.
Biol Blood Marrow Transplant
; 26(5): 817-822, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31982544
13.
Pre-transplant short telomeres are associated with high mortality risk after unrelated donor haematopoietic cell transplant for severe aplastic anaemia.
Br J Haematol
; 188(2): 309-316, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31426123
14.
Immune gene expression profiling reveals heterogeneity in luminal breast tumors.
Breast Cancer Res
; 21(1): 147, 2019 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31856876
15.
Rare germline variants in known melanoma susceptibility genes in familial melanoma.
Hum Mol Genet
; 26(24): 4886-4895, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29036293
16.
Combined somatic mutation and copy number analysis in the survival of familial CLL.
Br J Haematol
; 181(5): 604-613, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29687880
17.
Germline mutations in Protection of Telomeres 1 in two families with Hodgkin lymphoma.
Br J Haematol
; 181(3): 372-377, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29693246
18.
Association of Aflatoxin and Gallbladder Cancer.
Gastroenterology
; 153(2): 488-494.e1, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28428144
19.
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
J Med Genet
; 54(6): 417-425, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28280134
20.
Relative Telomere Length before Hematopoietic Cell Transplantation and Outcome after Unrelated Donor Hematopoietic Cell Transplantation for Acute Leukemia.
Biol Blood Marrow Transplant
; 23(7): 1054-1058, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28389255