Detalhe da pesquisa
1.
INFERNO: inferring the molecular mechanisms of noncoding genetic variants.
Nucleic Acids Res
; 46(17): 8740-8753, 2018 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30113658
2.
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
Am J Hum Genet
; 96(5): 753-64, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25892112
3.
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Hum Genet
; 135(3): 273-85, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26742502
4.
A unique late-replicating XY to autosome translocation in Peromyscus melanophrys.
Chromosome Res
; 18(2): 179-89, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20177772
5.
TSC1 loss increases risk for tauopathy by inducing tau acetylation and preventing tau clearance via chaperone-mediated autophagy.
Sci Adv
; 7(45): eabg3897, 2021 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34739309
6.
Inferring the Molecular Mechanisms of Noncoding Alzheimer's Disease-Associated Genetic Variants.
J Alzheimers Dis
; 72(1): 301-318, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31561366
7.
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.
Circ Cardiovasc Genet
; 10(5)2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29025761