Detalhe da pesquisa
1.
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.
Physiol Genomics
; 48(12): 922-927, 2016 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27764769
2.
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.
Nat Genet
; 53(3): 313-321, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33664507
3.
Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats.
Nat Commun
; 11(1): 2928, 2020 06 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32522985
4.
Properties of structural variants and short tandem repeats associated with gene expression and complex traits.
Nat Commun
; 11(1): 2927, 2020 06 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32522982
5.
Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease.
Elife
; 82019 11 20.
Artigo
Inglês
| MEDLINE | ID: mdl-31746734
6.
Subtle changes in chromatin loop contact propensity are associated with differential gene regulation and expression.
Nat Commun
; 10(1): 1054, 2019 03 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30837461
7.
Insights into the Mutational Burden of Human Induced Pluripotent Stem Cells from an Integrative Multi-Omics Approach.
Cell Rep
; 24(4): 883-894, 2018 07 24.
Artigo
Inglês
| MEDLINE | ID: mdl-30044985
8.
Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.
Genes (Basel)
; 8(9)2017 08 24.
Artigo
Inglês
| MEDLINE | ID: mdl-28837078
9.
Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210.
Genes (Basel)
; 8(10)2017 10 23.
Artigo
Inglês
| MEDLINE | ID: mdl-29065517
10.
Large-Scale Profiling Reveals the Influence of Genetic Variation on Gene Expression in Human Induced Pluripotent Stem Cells.
Cell Stem Cell
; 20(4): 533-546.e7, 2017 04 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28388430
11.
iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types.
Stem Cell Reports
; 8(4): 1086-1100, 2017 04 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28410642
12.
Oncogenic NRAS signaling differentially regulates survival and proliferation in melanoma.
Nat Med
; 18(10): 1503-10, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22983396