Detalhe da pesquisa
1.
Disease Heritability Inferred from Familial Relationships Reported in Medical Records.
Cell
; 173(7): 1692-1704.e11, 2018 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29779949
2.
KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design.
Am J Hum Genet
; 109(10): 1761-1776, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150388
3.
A multi-dimensional integrative scoring framework for predicting functional variants in the human genome.
Am J Hum Genet
; 109(3): 446-456, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216679
4.
Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics.
Am J Hum Genet
; 108(12): 2336-2353, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34767756
5.
Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes.
Proc Natl Acad Sci U S A
; 118(47)2021 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34799441
6.
Multitrait GWAS to connect disease variants and biological mechanisms.
PLoS Genet
; 17(8): e1009713, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34460823
7.
Genomic Disorders in CKD across the Lifespan.
J Am Soc Nephrol
; 34(4): 607-618, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36302597
8.
Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data.
Am J Hum Genet
; 106(4): 513-524, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32243819
9.
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
Genet Med
; 25(12): 100983, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37746849
10.
Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection.
N Engl J Med
; 380(20): 1918-1928, 2019 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31091373
11.
A semi-supervised model to predict regulatory effects of genetic variants at single nucleotide resolution using massively parallel reporter assays.
Bioinformatics
; 2021 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33515242
12.
FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications.
Am J Hum Genet
; 102(5): 920-942, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727691
13.
A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies.
Am J Hum Genet
; 102(6): 1031-1047, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754769
14.
Unified Sequence-Based Association Tests Allowing for Multiple Functional Annotations and Meta-analysis of Noncoding Variation in Metabochip Data.
Am J Hum Genet
; 101(3): 340-352, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28844485
15.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet
; 101(5): 789-802, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100090
16.
GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway.
PLoS Genet
; 13(2): e1006609, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28187132
17.
Rare-variant association tests in longitudinal studies, with an application to the Multi-Ethnic Study of Atherosclerosis (MESA).
Genet Epidemiol
; 41(8): 801-810, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29076270
18.
QRank: a novel quantile regression tool for eQTL discovery.
Bioinformatics
; 33(14): 2123-2130, 2017 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334222
19.
Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.
PLoS Genet
; 10(12): e1004729, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25502226
20.
Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism.
Proc Natl Acad Sci U S A
; 111(1): 343-8, 2014 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24344280