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1.
The landscape of genomic structural variation in Indigenous Australians.
Nature
; 624(7992): 602-610, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38093003
2.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genet Med
; 26(5): 101076, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38258669
3.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Brain
; 146(12): 5060-5069, 2023 12 01.
Article
in English
| MEDLINE | ID: mdl-37450567
4.
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
J Peripher Nerv Syst
; 27(2): 120-126, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35224818
5.
SAMHD1 enhances immunoglobulin hypermutation by promoting transversion mutation.
Proc Natl Acad Sci U S A
; 115(19): 4921-4926, 2018 05 08.
Article
in English
| MEDLINE | ID: mdl-29669924
6.
Proximity to AGCT sequences dictates MMR-independent versus MMR-dependent mechanisms for AID-induced mutation via UNG2.
Nucleic Acids Res
; 45(6): 3146-3157, 2017 04 07.
Article
in English
| MEDLINE | ID: mdl-28039326
7.
A universal molecular control for DNA, mRNA and protein expression.
Nat Commun
; 15(1): 2480, 2024 Mar 20.
Article
in English
| MEDLINE | ID: mdl-38509097
8.
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report.
Neurol Genet
; 9(2): e200064, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-37090938
9.
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.
NPJ Genom Med
; 8(1): 16, 2023 Jul 07.
Article
in English
| MEDLINE | ID: mdl-37419908
10.
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Brain Commun
; 5(4): fcad208, 2023.
Article
in English
| MEDLINE | ID: mdl-37621409
11.
Sex-specific transcriptomic and epitranscriptomic signatures of PTSD-like fear acquisition.
iScience
; 25(9): 104861, 2022 Sep 16.
Article
in English
| MEDLINE | ID: mdl-36039298
12.
Library adaptors with integrated reference controls improve the accuracy and reliability of nanopore sequencing.
Nat Commun
; 13(1): 6437, 2022 10 28.
Article
in English
| MEDLINE | ID: mdl-36307482
13.
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.
Sci Adv
; 8(9): eabm5386, 2022 03 04.
Article
in English
| MEDLINE | ID: mdl-35245110
14.
Respiratory viral co-infections among SARS-CoV-2 cases confirmed by virome capture sequencing.
Sci Rep
; 11(1): 3934, 2021 02 16.
Article
in English
| MEDLINE | ID: mdl-33594223
15.
Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology.
Nat Biotechnol
; 39(9): 1115-1128, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33846644
16.
Genopo: a nanopore sequencing analysis toolkit for portable Android devices.
Commun Biol
; 3(1): 538, 2020 09 29.
Article
in English
| MEDLINE | ID: mdl-32994472
17.
Analytical validity of nanopore sequencing for rapid SARS-CoV-2 genome analysis.
Nat Commun
; 11(1): 6272, 2020 12 09.
Article
in English
| MEDLINE | ID: mdl-33298935
18.
CD147 mediates intrahepatic leukocyte aggregation and determines the extent of liver injury.
PLoS One
; 14(7): e0215557, 2019.
Article
in English
| MEDLINE | ID: mdl-31291257
19.
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.
Mov Disord Clin Pract
; 11(5): 582-585, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38497520
20.
NOTCH2NLC GGC Repeat Expansion Presenting as Adult-Onset Cervical Dystonia.
Mov Disord Clin Pract
; 10(4): 704-706, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-37070059
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