Detalhe da pesquisa
1.
HIV, asymptomatic STI, and the rectal mucosal immune environment among young men who have sex with men.
PLoS Pathog
; 19(5): e1011219, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253061
2.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Am J Hum Genet
; 106(1): 26-40, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31870554
3.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Mol Psychiatry
; 26(8): 4496-4510, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015465
4.
Direct Immunodetection of Global A-to-I RNA Editing Activity with a Chemiluminescent Bioassay.
Angew Chem Int Ed Engl
; 60(31): 17009-17017, 2021 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33979483
5.
Selective Enrichment of A-to-I Edited Transcripts from Cellular RNA Using Endonuclease V.
J Am Chem Soc
; 142(11): 5241-5251, 2020 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109061
6.
PEMapper and PECaller provide a simplified approach to whole-genome sequencing.
Proc Natl Acad Sci U S A
; 114(10): E1923-E1932, 2017 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28223510
7.
Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls.
PLoS Genet
; 12(5): e1006040, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27152526
8.
One Size Doesn't Fit All - RefEditor: Building Personalized Diploid Reference Genome to Improve Read Mapping and Genotype Calling in Next Generation Sequencing Studies.
PLoS Comput Biol
; 11(8): e1004448, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26267278
9.
Reply to Plüss et al.: The strength of PEMapper/PECaller lies in unbiased calling using large sample sizes.
Proc Natl Acad Sci U S A
; 114(40): E8323, 2017 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28916730
10.
Live-cell invasive phenotyping uncovers the ALK2/BMP6 iron homeostasis pathway as a therapeutic vulnerability in LKB1-mutant lung cancer.
bioRxiv
; 2023 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37398244
11.
Outbreak of severe acute respiratory coronavirus virus 2 (SARS-CoV-2) in hospitalized hemodialysis patients: An epidemiologic and genomic investigation.
Infect Control Hosp Epidemiol
; 44(2): 332-334, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34866561
12.
Associations of differentially expressed genes with psychoneurological symptoms in patients with head and neck cancer: A longitudinal study.
J Psychosom Res
; 175: 111518, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37832274
13.
Loss of the endocytic tumor suppressor HD-PTP phenocopies LKB1 and promotes RAS-driven oncogenesis.
bioRxiv
; 2023 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36747658
14.
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
NPJ Genom Med
; 8(1): 17, 2023 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37463940
15.
Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior.
Front Neurol
; 13: 918022, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35911904
16.
Staff Scientist Perspectives on Onboarding and Professional Development: A Case Study.
J Biomol Tech
; 32(2): 74-82, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34121934
17.
Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.
BMC Med Genomics
; 14(1): 154, 2021 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34107974
18.
Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.
Fertil Steril
; 116(3): 843-854, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34016428
19.
Two New Aspergillus flavus Reference Genomes Reveal a Large Insertion Potentially Contributing to Isolate Stress Tolerance and Aflatoxin Production.
G3 (Bethesda)
; 10(10): 3515-3531, 2020 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817124
20.
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
Sci Rep
; 10(1): 18051, 2020 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33093519