Detalhe da pesquisa
1.
Clinical genome sequencing: Three years' experience at a tertiary children's hospital.
Genet Med
; 25(10): 100916, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334785
2.
The germline p53 activation syndrome: A new patient further refines the clinical phenotype.
Am J Med Genet A
; 188(7): 2204-2208, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35362179
3.
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Am J Med Genet A
; 188(11): 3184-3190, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36065636
4.
PoxA, yjeK, and elongation factor P coordinately modulate virulence and drug resistance in Salmonella enterica.
Mol Cell
; 39(2): 209-21, 2010 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20670890
5.
DGIdb: mining the druggable genome.
Nat Methods
; 10(12): 1209-10, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24122041
6.
Statistically identifying tumor suppressors and oncogenes from pan-cancer genome-sequencing data.
Bioinformatics
; 31(22): 3561-8, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26209800
7.
Deciphering a global network of functionally associated post-translational modifications.
Mol Syst Biol
; 8: 599, 2012 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22806145
8.
Cross-talk between phosphorylation and lysine acetylation in a genome-reduced bacterium.
Mol Syst Biol
; 8: 571, 2012 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-22373819
9.
Selection for or against escape from nonsense mediated decay is a novel signature for the detection of cancer genes.
Cancer Genet
; 258-259: 80-84, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34592632
10.
A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing.
Mol Genet Metab Rep
; 26: 100706, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33489762
11.
The prognostic effects of somatic mutations in ER-positive breast cancer.
Nat Commun
; 9(1): 3476, 2018 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181556
12.
Author Correction: The prognostic effects of somatic mutations in ER-positive breast cancer.
Nat Commun
; 9(1): 4850, 2018 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30429476
13.
Analysis of somatic mutations across the kinome reveals loss-of-function mutations in multiple cancer types.
Sci Rep
; 7(1): 6418, 2017 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28743916
14.
Unsupervised detection of cancer driver mutations with parsimony-guided learning.
Nat Genet
; 48(10): 1288-94, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27618449
15.
A TMPRSS2-ERG gene signature predicts prognosis of patients with prostate adenocarcinoma.
Clin Transl Med
; 10(8): e216, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33377652
16.
Facial Nerve Palsy in a Child With Fever of Unknown Origin.
Clin Pediatr (Phila)
; 59(4-5): 516-518, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31948280
17.
Prioritizing Potentially Druggable Mutations with dGene: An Annotation Tool for Cancer Genome Sequencing Data.
PLoS One
; 8(6): e67980, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23826350
18.
Response of a Metastatic Breast Carcinoma With a Previously Uncharacterized ERBB2 G776V Mutation to Human Epidermal Growth Factor Receptor 2-Targeted Therapy.
JCO Precis Oncol
; 1: 1-9, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35172500