Detalhe da pesquisa
1.
Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.
Cell
; 179(4): 984-1002.e36, 2019 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31675503
2.
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Proc Natl Acad Sci U S A
; 120(46): e2314225120, 2023 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37931111
3.
Deciphering the Role of Rapidly Evolving Conserved Elements in Primate Brain Development and Exploring Their Potential Involvement in Alzheimer's Disease.
Mol Biol Evol
; 41(1)2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38175672
4.
Genome-wide identification of dominant polyadenylation hexamers for use in variant classification.
Hum Mol Genet
; 32(23): 3211-3224, 2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606238
5.
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
Am J Hum Genet
; 109(3): 457-470, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35120630
6.
Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.
Hum Genomics
; 18(1): 20, 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38395944
7.
Gene expression across mammalian organ development.
Nature
; 571(7766): 505-509, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31243369
8.
Functional genomics analysis reveals the evolutionary adaptation and demographic history of pygmy lorises.
Proc Natl Acad Sci U S A
; 119(40): e2123030119, 2022 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161902
9.
Genome-wide detection of human variants that disrupt intronic branchpoints.
Proc Natl Acad Sci U S A
; 119(44): e2211194119, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36306325
10.
Large-Scale Chromosomal Changes Lead to Genome-Level Expression Alterations, Environmental Adaptation, and Speciation in the Gayal (Bos frontalis).
Mol Biol Evol
; 40(1)2023 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36625089
11.
Integrative Omics Reveals Rapidly Evolving Regulatory Sequences Driving Primate Brain Evolution.
Mol Biol Evol
; 40(8)2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37494289
12.
Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications.
Hum Genet
; 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38507016
13.
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
Am J Hum Genet
; 108(12): 2301-2318, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34762822
14.
A platform for curated products from novel open reading frames prompts reinterpretation of disease variants.
Genome Res
; 31(2): 327-336, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33468550
15.
The genetic structure of the Turkish population reveals high levels of variation and admixture.
Proc Natl Acad Sci U S A
; 118(36)2021 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34426522
16.
Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization.
Neuroimage
; 279: 120325, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37579999
17.
Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans.
Hum Genet
; 142(2): 275-288, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36352240
18.
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.
Hum Genet
; 142(2): 245-274, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36344696
19.
Expanding ACMG variant classification guidelines into a general framework.
Hum Genomics
; 16(1): 31, 2022 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35974416
20.
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.
Pancreatology
; 23(5): 507-511, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37270400