Detalhe da pesquisa
1.
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
Hum Genomics
; 18(1): 21, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38414044
2.
Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.
PLoS Genet
; 18(9): e1009923, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112662
3.
Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes.
Genet Epidemiol
; 47(6): 450-460, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158367
4.
RAVAQ: An integrative pipeline from quality control to region-based rare variant association analysis.
Genet Epidemiol
; 46(5-6): 256-265, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35419876
5.
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
Ann Neurol
; 90(6): 962-975, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34606115
6.
Rare variant association testing for multicategory phenotype.
Genet Epidemiol
; 43(6): 646-656, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31087445
7.
Genetic aetiology of glycaemic traits: approaches and insights.
Hum Mol Genet
; 26(R2): R172-R184, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28977447
8.
Whole genome prediction of bladder cancer risk with the Bayesian LASSO.
Genet Epidemiol
; 38(5): 467-76, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24796258
9.
Next generation modeling in GWAS: comparing different genetic architectures.
Hum Genet
; 133(10): 1235-53, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24934831
10.
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.
Am J Hum Genet
; 87(1): 129-38, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20598279
11.
Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data.
BMC Genomics
; 13: 326, 2012 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22817656
12.
Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study.
Hum Mutat
; 32(2): 240-8, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21089066
13.
Extension of SKAT to multi-category phenotypes through a geometrical interpretation.
Eur J Hum Genet
; 29(5): 736-744, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33446828
14.
The trans-ancestral genomic architecture of glycemic traits.
Nat Genet
; 53(6): 840-860, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059833
15.
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription.
Cell Metab
; 31(6): 1107-1119.e12, 2020 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32492392
16.
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.
Lancet Rheumatol
; 2(2): e99-e109, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263665
17.
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Sci Rep
; 7(1): 4394, 2017 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-28663568
18.
Mosaic loss of chromosome Y is associated with common variation near TCL1A.
Nat Genet
; 48(5): 563-8, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27064253
19.
Reply to 'Mosaic loss of chromosome Y in leukocytes matters'.
Nat Genet
; 51(1): 7-9, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30514911
20.
Advantage of using allele-specific copy numbers when testing for association in regions with common copy number variants.
PLoS One
; 8(9): e75350, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24040408