Detalhe da pesquisa
1.
Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.
Am J Hum Genet;
108(7): 1217-1230, 2021 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34077760
2.
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.
Ann Neurol;
90(1): 76-88, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33938021
3.
MBNL proteins repress ES-cell-specific alternative splicing and reprogramming.
Nature;
498(7453): 241-5, 2013 Jun 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23739326
4.
Widespread intron retention in mammals functionally tunes transcriptomes.
Genome Res;
24(11): 1774-86, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25258385
5.
Does conservation account for splicing patterns?
BMC Genomics;
17(1): 787, 2016 10 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27717327
6.
Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models.
Nat Genet;
55(5): 787-795, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37069358
7.
DeepNull models non-linear covariate effects to improve phenotypic prediction and association power.
Nat Commun;
13(1): 241, 2022 01 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35017556
8.
Disease risk scores for skin cancers.
Nat Commun;
12(1): 160, 2021 01 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33420020
9.
PICKY: a novel SVD-based NMR spectra peak picking method.
Bioinformatics;
25(12): i268-75, 2009 Jun 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19477998
10.
The effect of LRRK2 loss-of-function variants in humans.
Nat Med;
26(6): 869-877, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32461697
11.
The Parkinson's phenome-traits associated with Parkinson's disease in a broadly phenotyped cohort.
NPJ Parkinsons Dis;
5: 4, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30937360
12.
Correspondence between cerebral glucose metabolism and BOLD reveals relative power and cost in human brain.
Nat Commun;
10(1): 690, 2019 02 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30741935
13.
Author Correction: The effect of LRRK2 loss-of-function variants in humans.
Nat Med;
27(2): 355, 2021 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33483629
14.
Genome-wide characteristics of de novo mutations in autism.
NPJ Genom Med;
1: 160271-1602710, 2016 Aug 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27525107
15.
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
NPJ Genom Med;
12016 Jan 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28567303
16.
Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning.
Nat Biotechnol;
33(8): 831-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26213851
17.
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Science;
347(6218): 1254806, 2015 Jan 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25525159
18.
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.
G3 (Bethesda);
5(11): 2453-61, 2015 Sep 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26384369
19.
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.
Nat Genet;
46(7): 742-7, 2014 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24859339
20.
Determining protein structures from NOESY distance constraints by semidefinite programming.
J Comput Biol;
20(4): 296-310, 2013 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23113706