Detalhe da pesquisa
1.
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.
J Clin Endocrinol Metab
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38717911
2.
Assessing the hidden diversity underlying consensus sequences of SARS-CoV-2 using VICOS, a novel bioinformatic pipeline for identification of mixed viral populations.
Virus Res
; 325: 199035, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586487
3.
Human Y chromosome sequences from Q Haplogroup reveal a South American settlement pre-18,000 years ago and a profound genomic impact during the Younger Dryas.
PLoS One
; 17(8): e0271971, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35976870
4.
Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.
Ophthalmic Genet
; 42(3): 291-295, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33599182
5.
Cost-Effective Method to Perform SARS-CoV-2 Variant Surveillance: Detection of Alpha, Gamma, Lambda, Delta, Epsilon, and Zeta in Argentina.
Front Med (Lausanne)
; 8: 755463, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34957143
6.
An optimized methodology for whole genome sequencing of RNA respiratory viruses from nasopharyngeal aspirates.
PLoS One
; 13(6): e0199714, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29940028
7.
Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.
Nat Genet
; 49(11): 1661, 2017 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29074947
8.
Germline hypomorphic CARD11 mutations in severe atopic disease.
Nat Genet
; 49(8): 1192-1201, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28628108
9.
Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.
PLoS One
; 10(2): e0116358, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25646853