Detalhe da pesquisa
1.
Specialized replication mechanisms maintain genome stability at human centromeres.
Mol Cell
; 84(6): 1003-1020.e10, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38359824
2.
Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.
PLoS Comput Biol
; 17(2): e1007784, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33606672
3.
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
Hum Mutat
; 40(7): 865-878, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026367
4.
Allele balance bias identifies systematic genotyping errors and false disease associations.
Hum Mutat
; 40(1): 115-126, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30353964
5.
The ALT pathway generates telomere fusions that can be detected in the blood of cancer patients.
Nat Commun
; 15(1): 82, 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38167290
6.
Predicting response to immune checkpoint blockade therapy among mismatch repair-deficient patients using mutational signatures.
medRxiv
; 2024 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293061
7.
A comprehensive clinically informed map of dependencies in cancer cells and framework for target prioritization.
Cancer Cell
; 42(2): 301-316.e9, 2024 02 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38215750
8.
De novo detection of somatic mutations in high-throughput single-cell profiling data sets.
Nat Biotechnol
; 2023 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37414936
9.
Profilin 1 deficiency drives mitotic defects and reduces genome stability.
Commun Biol
; 6(1): 9, 2023 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599901
10.
Mismatch repair deficiency is not sufficient to elicit tumor immunogenicity.
Nat Genet
; 55(10): 1686-1695, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37709863
11.
Mapping single-cell transcriptomes in the intra-tumoral and associated territories of kidney cancer.
Cancer Cell
; 40(12): 1583-1599.e10, 2022 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36423636
12.
The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues.
Genome Med
; 12(1): 49, 2020 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32460841
13.
Dynamics of cell-free tumour DNA correlate with treatment response of head and neck cancer patients receiving radiochemotherapy.
Radiother Oncol
; 151: 182-189, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32687856
14.
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
Front Neurol
; 10: 1332, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31920950
15.
Genomics of ecological adaptation in cactophilic Drosophila.
Genome Biol Evol
; 7(1): 349-66, 2014 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25552534