Detalhe da pesquisa
1.
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.
Epilepsia Open
; 9(2): 758-764, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129960
2.
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
medRxiv
; 2023 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873138
3.
Untangling the genetic link between type 1 and type 2 diabetes using functional genomics.
Sci Rep
; 11(1): 13871, 2021 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230558
4.
Identifying the lungs as a susceptible site for allele-specific regulatory changes associated with type 1 diabetes risk.
Commun Biol
; 4(1): 1072, 2021 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34521982
5.
Type 1 Diabetes Mellitus-Associated Genetic Variants Contribute to Overlapping Immune Regulatory Networks.
Front Genet
; 9: 535, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30524468
6.
The genetic architecture of type 1 diabetes mellitus.
Mol Cell Endocrinol
; 477: 70-80, 2018 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29913182