Detalhe da pesquisa
1.
Refining the impact of genetic evidence on clinical success.
Nature;
629(8012): 624-629, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38632401
2.
Evaluating drug targets through human loss-of-function genetic variation.
Nature;
581(7809): 459-464, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32461653
3.
The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature;
581(7809): 434-443, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32461654
4.
A single-cell map of antisense oligonucleotide activity in the brain.
Nucleic Acids Res;
51(14): 7109-7124, 2023 08 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37188501
5.
Therapeutic Trial of anle138b in Mouse Models of Genetic Prion Disease.
J Virol;
97(2): e0167222, 2023 02 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36651748
6.
Analysis of non-human primate models for evaluating prion disease therapeutic efficacy.
PLoS Pathog;
18(8): e1010728, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35994510
7.
Author Correction: Evaluating drug targets through human loss-of-function genetic variation.
Nature;
590(7846): E56, 2021 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33536628
8.
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature;
597(7874): E3-E4, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34373650
9.
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature;
590(7846): E53, 2021 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33536625
10.
Analysis of protein-coding genetic variation in 60,706 humans.
Nature;
536(7616): 285-91, 2016 08 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27535533
11.
Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints.
Nucleic Acids Res;
48(19): 10615-10631, 2020 11 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32776089
12.
Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.
Proc Natl Acad Sci U S A;
116(16): 7793-7798, 2019 04 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30936307
13.
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
PLoS Genet;
15(5): e1008190, 2019 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31145742
14.
Multimodal small-molecule screening for human prion protein binders.
J Biol Chem;
295(39): 13516-13531, 2020 09 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32723867
15.
Domain-specific Quantification of Prion Protein in Cerebrospinal Fluid by Targeted Mass Spectrometry.
Mol Cell Proteomics;
18(12): 2388-2400, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31558565
16.
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
PLoS Genet;
14(5): e1007329, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29795570
17.
Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease.
BMC Med;
18(1): 140, 2020 06 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32552681
18.
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Hum Mutat;
38(5): 517-523, 2017 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28229513
19.
Ascertainment bias causes false signal of anticipation in genetic prion disease.
Am J Hum Genet;
95(4): 371-82, 2014 Oct 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25279981
20.
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
Am J Hum Genet;
104(1): 187-190, 2019 01 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30609406