Detalhe da pesquisa
1.
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
2.
Clinical impact of whole-genome sequencing in patients with early-onset dementia.
J Neurol Neurosurg Psychiatry
; 2022 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35906014
3.
Genetic testing in dementia-A medical genetics perspective.
Int J Geriatr Psychiatry
; 36(8): 1158-1170, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33779003
4.
Mainstreaming genomics: training experience of hospital medical officers at the Royal Melbourne Hospital.
Intern Med J
; 51(2): 268-271, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33631848
5.
Genetic resilience to Alzheimer's disease in APOE ε4 homozygotes: A systematic review.
Alzheimers Dement
; 15(12): 1612-1623, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31506248
6.
Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.
Intern Med J
; 47(6): 664-673, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328109
7.
Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.
Sci Rep
; 14(1): 5403, 2024 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38443430
8.
Polygenic score modifies risk for Alzheimer's disease in APOE ε4 homozygotes at phenotypic extremes.
Alzheimers Dement (Amst)
; 13(1): e12226, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34386572