Detalhe da pesquisa
1.
Structural Alterations Driving Castration-Resistant Prostate Cancer Revealed by Linked-Read Genome Sequencing.
Cell
; 174(2): 433-447.e19, 2018 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909985
2.
Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation.
Cell
; 168(6): 1053-1064.e15, 2017 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283061
3.
Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease.
Cell
; 167(2): 355-368.e10, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693352
4.
A genomic mutational constraint map using variation in 76,156 human genomes.
Nature
; 625(7993): 92-100, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38057664
5.
Genetic and clonal dissection of murine small cell lung carcinoma progression by genome sequencing.
Cell
; 156(6): 1298-1311, 2014 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24630729
6.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Cell
; 157(3): 651-63, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766810
7.
Evolution and impact of subclonal mutations in chronic lymphocytic leukemia.
Cell
; 152(4): 714-26, 2013 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-23415222
8.
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Cell
; 154(3): 505-17, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911318
9.
Punctuated evolution of prostate cancer genomes.
Cell
; 153(3): 666-77, 2013 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23622249
10.
Rare coding variants in ten genes confer substantial risk for schizophrenia.
Nature
; 604(7906): 509-516, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396579
11.
Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects.
Am J Hum Genet
; 111(1): 133-149, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181730
12.
A landscape of driver mutations in melanoma.
Cell
; 150(2): 251-63, 2012 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22817889
13.
Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing.
Cell
; 150(6): 1107-20, 2012 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22980975
14.
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study.
Am J Hum Genet
; 110(10): 1704-1717, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802043
15.
The road ahead in genetics and genomics.
Nat Rev Genet
; 21(10): 581-596, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32839576
16.
A structural variation reference for medical and population genetics.
Nature
; 581(7809): 444-451, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461652
17.
The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature
; 581(7809): 434-443, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461654
18.
Canonical correlation analysis for multi-omics: Application to cross-cohort analysis.
PLoS Genet
; 19(5): e1010517, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37216410
19.
Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits.
Am J Hum Genet
; 109(7): 1286-1297, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35716666
20.
Mechanisms of response and resistance to combined decitabine and ipilimumab for advanced myeloid disease.
Blood
; 141(15): 1817-1830, 2023 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36706355