Detalhe da pesquisa
1.
The landscape of genomic structural variation in Indigenous Australians.
Nature;
624(7992): 602-610, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38093003
2.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Brain;
146(12): 5060-5069, 2023 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37450567
3.
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report.
Neurol Genet;
9(2): e200064, 2023 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37090938
4.
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Brain Commun;
5(4): fcad208, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37621409
5.
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.
Sci Adv;
8(9): eabm5386, 2022 03 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35245110
6.
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.
Acta Neuropathol Commun;
9(1): 98, 2021 05 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34034831