Detalhe da pesquisa
1.
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Am J Hum Genet
; 111(6): 1222-1238, 2024 Jun 06.
Artigo
Inglês
| MEDLINE | ID: mdl-38781976
2.
Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptome.
PLoS Genet
; 17(1): e1009224, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33417599
3.
Genetic Inhibition of APOL1 Pore-Forming Function Prevents APOL1-Mediated Kidney Disease.
J Am Soc Nephrol
; 34(11): 1889-1899, 2023 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37798822
4.
A systematic review and functional bioinformatics analysis of genes associated with Crohn's disease identify more than 120 related genes.
BMC Genomics
; 23(1): 302, 2022 Apr 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35418025
5.
Analysis of protein-coding genetic variation in 60,706 humans.
Nature
; 536(7616): 285-91, 2016 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-27535533
6.
Differences in the Presentation and Progression of Parkinson's Disease by Sex.
Mov Disord
; 36(1): 106-117, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33002231
7.
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Nature
; 526(7571): 112-7, 2015 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26367794
8.
Benchmarking machine learning models for late-onset alzheimer's disease prediction from genomic data.
BMC Bioinformatics
; 20(1): 709, 2019 Dec 16.
Artigo
Inglês
| MEDLINE | ID: mdl-31842725
9.
Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts.
Mov Disord
; 34(12): 1839-1850, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31505070
10.
Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study.
Hum Mol Genet
; 25(23): 5234-5243, 2016 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27616567
11.
Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.
Ann Rheum Dis
; 77(3): 378-385, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29170203
12.
FTO genotype is associated with phenotypic variability of body mass index.
Nature
; 490(7419): 267-72, 2012 Oct 11.
Artigo
Inglês
| MEDLINE | ID: mdl-22982992
13.
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
PLoS Genet
; 10(6): e1004423, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24945404
14.
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
Hum Mol Genet
; 23(7): 1923-33, 2014 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24249740
15.
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
Hum Mol Genet
; 23(11): 3054-68, 2014 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24430505
16.
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Nature
; 467(7317): 832-8, 2010 Oct 14.
Artigo
Inglês
| MEDLINE | ID: mdl-20881960
17.
Association of a Genetic Risk Score With Body Mass Index Across Different Birth Cohorts.
JAMA
; 316(1): 63-9, 2016 Jul 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27380344
18.
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
Ann Neurol
; 76(1): 120-33, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24931836
19.
Challenges in conducting genome-wide association studies in highly admixed multi-ethnic populations: the Generation R Study.
Eur J Epidemiol
; 30(4): 317-30, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25762173
20.
Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus.
PLoS Genet
; 8(7): e1002718, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22792070