Detalhe da pesquisa
1.
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Clin Genet
; 101(1): 134-141, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664255
2.
Three generation families: Analysis of de novo variants in autism.
Eur J Hum Genet
; 31(9): 1017-1022, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37280359
3.
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Gene
; 875: 147501, 2023 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37217153
4.
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.
Transl Psychiatry
; 12(1): 234, 2022 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35668055
5.
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Nat Commun
; 13(1): 1004, 2022 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246524
6.
Genomics, epigenomics and pharmacogenomics of familial hypercholesterolemia (FHBGEP): A study protocol.
Res Social Adm Pharm
; 17(7): 1347-1355, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33129683
7.
Noninvasive prenatal paternity determination using microhaplotypes: a pilot study.
BMC Med Genomics
; 13(1): 157, 2020 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33097049
8.
Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.
Neurol Genet
; 6(5): e513, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33062893
9.
Author Correction: Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil.
Nat Commun
; 13(1): 1831, 2022 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35354829