Detalhe da pesquisa
1.
Genetic variants regulating immune cell levels in health and disease.
Cell
; 155(1): 242-56, 2013 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24074872
2.
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Am J Hum Genet
; 97(2): 199-215, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166479
3.
Germline variants in exonic regions have limited impact on immune checkpoint blockade clinical outcomes in advanced melanoma.
Pigment Cell Melanoma Res
; 34(5): 978-983, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449414
4.
New Drug Repositioning Candidates for T-ALL Identified Via Human/Murine Gene Signature Comparison.
Front Oncol
; 10: 557643, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33240808
5.
PROTOGENE: turning amino acid alignments into bona fide CDS nucleotide alignments.
Nucleic Acids Res
; 34(Web Server issue): W600-3, 2006 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16845080
6.
Uncovering and deciphering the pro-invasive role of HACE1 in melanoma cells.
Cell Death Differ
; 25(11): 2010-2022, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29515254
7.
Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.
Birth Defects Res
; 109(16): 1257-1267, 2017 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28748635
8.
Population- and individual-specific regulatory variation in Sardinia.
Nat Genet
; 49(5): 700-707, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28394350
9.
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.
Metabolism
; 64(11): 1530-40, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26350127
10.
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.
Nat Genet
; 47(11): 1272-1281, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26366554
11.
Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny.
Science
; 341(6145): 565-9, 2013 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23908240