Detalhe da pesquisa
1.
oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids.
Hum Genet
; 142(8): 1281-1291, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36877372
2.
An enhanced CRISPR repressor for targeted mammalian gene regulation.
Nat Methods
; 15(8): 611-616, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30013045
3.
Editorial for the Neurogenetics and Neurogenomics special issue.
Hum Genet
; 142(8): 997-999, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37474752
4.
Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.
Am J Hum Genet
; 96(5): 695-708, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865494
5.
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.
Am J Hum Genet
; 94(3): 437-52, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24607388
6.
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
Am J Hum Genet
; 95(5): 509-20, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439097
7.
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
PLoS Genet
; 10(7): e1004494, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25078778
8.
Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height.
Hum Mol Genet
; 21(23): 5193-201, 2012 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22914739
9.
Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals.
PLoS Genet
; 7(12): e1002439, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22242009
10.
FACS-Based Sequencing Approach to Evaluate Cell Type to Genotype Associations Using Cerebral Organoids.
Methods Mol Biol
; 2683: 193-199, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37300776
11.
Reliable multiplex generation of pooled induced pluripotent stem cells.
Cell Rep Methods
; 3(9): 100570, 2023 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37751688
12.
Modeling of mitochondrial genetic polymorphisms reveals induction of heteroplasmy by pleiotropic disease locus 10398A>G.
Sci Rep
; 13(1): 10405, 2023 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369829
13.
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.
Nat Commun
; 13(1): 3243, 2022 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35688811
14.
Engineering adeno-associated viral vectors to evade innate immune and inflammatory responses.
Sci Transl Med
; 13(580)2021 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568518
15.
Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Nat Neurosci
; 23(9): 1176, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32665711
16.
Enabling multiplexed testing of pooled donor cells through whole-genome sequencing.
Genome Med
; 10(1): 31, 2018 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29673390
17.
High-throughput creation and functional profiling of DNA sequence variant libraries using CRISPR-Cas9 in yeast.
Nat Biotechnol
; 36(6): 540-546, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29786095
18.
An unbiased index to quantify participant's phenotypic contribution to an open-access cohort.
Sci Rep
; 7: 46148, 2017 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28387241
19.
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Nat Neurosci
; 20(9): 1217-1224, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28714951
20.
Biological interpretation of genome-wide association studies using predicted gene functions.
Nat Commun
; 6: 5890, 2015 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25597830