Detalhe da pesquisa
1.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
J Transl Med
; 21(1): 282, 2023 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37101184
2.
Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.
Differentiation
; 128: 1-12, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36194927
3.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med
; 24(1): 130-145, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906502
4.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
; 323(24): 2503-2511, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573669
5.
Origin-Dependent Inverted-Repeat Amplification: Tests of a Model for Inverted DNA Amplification.
PLoS Genet
; 11(12): e1005699, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26700858
6.
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
medRxiv
; 2023 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36909643
7.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Genome Med
; 15(1): 74, 2023 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37723522