Detalhe da pesquisa
1.
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Proc Natl Acad Sci U S A
; 119(6)2022 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35121658
2.
Dynamic landscape and regulation of RNA editing in mammals.
Nature
; 550(7675): 249-254, 2017 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29022589
3.
Convergent loss of PTEN leads to clinical resistance to a PI(3)Kα inhibitor.
Nature
; 518(7538): 240-4, 2015 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25409150
4.
DeNovoGear: de novo indel and point mutation discovery and phasing.
Nat Methods
; 10(10): 985-7, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23975140
5.
Genome Modeling System: A Knowledge Management Platform for Genomics.
PLoS Comput Biol
; 11(7): e1004274, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26158448
6.
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
PLoS Genet
; 9(3): e1003349, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23555275
7.
Transcription factor fluctuations underlie cell-to-cell variability in a signaling pathway response.
Genetics
; 224(3)2023 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37226217
8.
Active learning of enhancer and silencer regulatory grammar in photoreceptors.
bioRxiv
; 2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37662358
9.
The origins and functional effects of postzygotic mutations throughout the human life span.
Science
; 380(6641): eabn7113, 2023 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37053313
10.
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Nat Commun
; 14(1): 1589, 2023 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36949070
11.
A scalable method for identifying frequent subtrees in sets of large phylogenetic trees.
BMC Bioinformatics
; 13: 256, 2012 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-23033843
12.
The genetic architecture of sporadic and multiple consecutive miscarriage.
Nat Commun
; 11(1): 5980, 2020 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239672
13.
Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.
Nat Commun
; 9(1): 3787, 2018 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30224629
14.
A Phase I Trial of BKM120 (Buparlisib) in Combination with Fulvestrant in Postmenopausal Women with Estrogen Receptor-Positive Metastatic Breast Cancer.
Clin Cancer Res
; 22(7): 1583-91, 2016 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26563128
15.
Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia.
Exp Hematol
; 44(7): 603-13, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181063
16.
Optimizing cancer genome sequencing and analysis.
Cell Syst
; 1(3): 210-223, 2015 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-26645048
17.
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer.
Nat Genet
; 49(2): 170-174, 2017 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28138153