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.
Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations.
Hum Mol Genet
; 32(22): 3146-3152, 2023 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565819
3.
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
4.
Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia.
Am J Hum Genet
; 106(2): 264-271, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004448
5.
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
6.
Characterization of breakpoint regions of large structural autosomal mosaic events.
Hum Mol Genet
; 26(22): 4388-4394, 2017 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973384
7.
Characterising cis-regulatory variation in the transcriptome of histologically normal and tumour-derived pancreatic tissues.
Gut
; 67(3): 521-533, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28634199
8.
Successful use of whole genome amplified DNA from multiple source types for high-density Illumina SNP microarrays.
BMC Genomics
; 19(1): 182, 2018 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29510662
9.
Chromosomal Aberrations and Survival after Unrelated Donor Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia.
Biol Blood Marrow Transplant
; 24(10): 2003-2008, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29879518
10.
Characterization of large structural genetic mosaicism in human autosomes.
Am J Hum Genet
; 96(3): 487-97, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25748358
11.
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
12.
Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.
Am J Med Genet A
; 176(6): 1432-1437, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29696773
13.
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
14.
Somatic Genomics and Clinical Features of Lung Adenocarcinoma: A Retrospective Study.
PLoS Med
; 13(12): e1002162, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27923066
15.
Mosaic 13q14 deletions in peripheral leukocytes of non-hematologic cancer cases and healthy controls.
J Hum Genet
; 61(5): 411-8, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26763882
16.
Molecular landscape of immune pressure and escape in aplastic anemia.
Leukemia
; 37(1): 202-211, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36253429
17.
Glyphosate Use and Mosaic Loss of Chromosome Y among Male Farmers in the Agricultural Health Study.
Environ Health Perspect
; 131(12): 127006, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38055050
18.
Mosaic chromosomal alterations detected in men living with HIV and the relationship to non-Hodgkin lymphoma.
AIDS
; 37(8): 1307-1313, 2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36927626
19.
Oral microbiome and risk of incident head and neck cancer: A nested case-control study.
Oral Oncol
; 137: 106305, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36610232
20.
Evaluation of alcohol-free mouthwash for studies of the oral microbiome.
PLoS One
; 18(4): e0284956, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37104300