Detalhe da pesquisa
1.
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Cell
; 169(1): 6-12, 2017 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28340351
2.
Will variants of uncertain significance still exist in 2030?
Am J Hum Genet
; 111(1): 5-10, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38086381
3.
A Combined Approach Reveals a Regulatory Mechanism Coupling Src's Kinase Activity, Localization, and Phosphotransferase-Independent Functions.
Mol Cell
; 74(2): 393-408.e20, 2019 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30956043
4.
Antigen perception in T cells by long-term Erk and NFAT signaling dynamics.
Proc Natl Acad Sci U S A
; 120(52): e2308366120, 2023 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38113261
5.
Measuring Pharmacogene Variant Function at Scale Using Multiplexed Assays.
Annu Rev Pharmacol Toxicol
; 62: 531-550, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34516287
6.
Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.
Bioinformatics
; 40(4)2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38569896
7.
A chemically controlled Cas9 switch enables temporal modulation of diverse effectors.
Nat Chem Biol
; 19(8): 981-991, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36879061
8.
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
Am J Hum Genet
; 108(12): 2248-2258, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34793697
9.
Massively parallel characterization of CYP2C9 variant enzyme activity and abundance.
Am J Hum Genet
; 108(9): 1735-1751, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314704
10.
Aggregating knowledge about prions and amyloid.
Cell
; 137(1): 20-2, 2009 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-19345180
11.
Biophysical and Mechanistic Models for Disease-Causing Protein Variants.
Trends Biochem Sci
; 44(7): 575-588, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712981
12.
CRaTER enrichment for on-target gene editing enables generation of variant libraries in hiPSCs.
J Mol Cell Cardiol
; 179: 60-71, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37019277
13.
Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity.
Proc Natl Acad Sci U S A
; 117(10): 5394-5401, 2020 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32094176
14.
Understanding the Origins of Loss of Protein Function by Analyzing the Effects of Thousands of Variants on Activity and Abundance.
Mol Biol Evol
; 38(8): 3235-3246, 2021 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33779753
15.
MaveRegistry: a collaboration platform for multiplexed assays of variant effect.
Bioinformatics
; 37(19): 3382-3383, 2021 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33774657
16.
An improved platform for functional assessment of large protein libraries in mammalian cells.
Nucleic Acids Res
; 48(1): e1, 2020 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31612958
17.
High-throughput, microscope-based sorting to dissect cellular heterogeneity.
Mol Syst Biol
; 16(6): e9442, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32500953
18.
Variant Interpretation: Functional Assays to the Rescue.
Am J Hum Genet
; 101(3): 315-325, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886340
19.
Rapidly inducible Cas9 and DSB-ddPCR to probe editing kinetics.
Nat Methods
; 14(9): 891-896, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28737741
20.
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
Genet Med
; 22(5): 825-830, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31911673