Detalhe da pesquisa
1.
Balancing the transcriptome: leveraging sample similarity to improve measures of gene specificity.
Brief Bioinform
; 23(5)2022 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35534150
2.
The omics era: a nexus of untapped potential for Mendelian chromatinopathies.
Hum Genet
; 2023 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37115317
3.
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
Hum Genet
; 142(12): 1705-1720, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37861717
4.
DMRscaler: a scale-aware method to identify regions of differential DNA methylation spanning basepair to multi-megabase features.
BMC Bioinformatics
; 23(1): 364, 2022 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36064314
5.
Retrospective Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) in Symptomatic Patients Prior to Widespread Diagnostic Testing in Southern California.
Clin Infect Dis
; 74(2): 271-277, 2022 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33939799
6.
Genomic epidemiology of the Los Angeles COVID-19 outbreak and the early history of the B.1.43 strain in the USA.
BMC Genomics
; 23(1): 260, 2022 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35379194
7.
From chemoproteomic-detected amino acids to genomic coordinates: insights into precise multi-omic data integration.
Mol Syst Biol
; 17(2): e9840, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33599394
8.
Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits.
Am J Hum Genet
; 103(4): 535-552, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290150
9.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Am J Hum Genet
; 96(3): 498-506, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728775
10.
Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.
Am J Med Genet A
; 176(12): 2829-2834, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244526
11.
Mutant cohesin in premature ovarian failure.
N Engl J Med
; 370(10): 943-949, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24597867
12.
A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.
Hum Reprod
; 31(4): 905-14, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26911863
13.
Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease.
Sci Transl Med
; 16(745): eade4510, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691621
14.
Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.
JCI Insight
; 8(10)2023 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37053013
15.
3D Printing as an Effective Quality Assurance Implementation in Massive-Scale SARS-CoV-2 Testing at a SwabSeq Next-Generation Sequencing Laboratory.
Lab Med
; 54(5): 512-518, 2023 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36810591
16.
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
bioRxiv
; 2023 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577627
17.
The genetic underpinnings of variable penetrance and expressivity of pathogenic mutations in cardiometabolic traits.
medRxiv
; 2023 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37745486
18.
Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.
Cells
; 12(11)2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296576
19.
Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region.
Nat Med
; 29(7): 1845-1856, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37464048
20.
Lymphoma and gout coexisting in the same joint fluid.
Blood
; 125(20): 3213, 2015 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26171482