Detalhe da pesquisa
1.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38251460
2.
Complexity in Genetic Epilepsies: A Comprehensive Review.
Int J Mol Sci
; 24(19)2023 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37834053
3.
Clinical validation of a single NGS targeted panel pipeline using the KAPA HyperChoice system for detection of germline, somatic and mitochondrial sequence and copy number variants.
Expert Rev Mol Diagn
; 23(9): 827-841, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37542410
4.
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