Search details
1.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Am J Hum Genet
; 110(7): 1046-1067, 2023 07 06.
Article
in English
| MEDLINE | ID: mdl-37352859
2.
PP2A is a therapeutically targetable driver of cell fate decisions via a c-Myc/p21 axis in human and murine acute myeloid leukemia.
Blood
; 139(9): 1340-1358, 2022 03 03.
Article
in English
| MEDLINE | ID: mdl-34788382
3.
Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer.
Exp Mol Pathol
; 130: 104856, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36791903
4.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35979650
5.
Detecting rare copy number variants from Illumina genotyping arrays with the CamCNV pipeline: Segmentation of z-scores improves detection and reliability.
Genet Epidemiol
; 45(3): 237-248, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33020983
6.
Characterization of an alloherpesvirus from wild lake sturgeon Acipenser fulvescens in Wisconsin (USA).
Dis Aquat Organ
; 149: 83-96, 2022 Jun 02.
Article
in English
| MEDLINE | ID: mdl-35686452
7.
Increased gene expression variability in BRCA1-associated and basal-like breast tumours.
Breast Cancer Res Treat
; 189(2): 363-375, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34287743
8.
Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.
Breast Cancer Res Treat
; 185(3): 583-590, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-33113089
9.
ROR1-targeted delivery of miR-29b induces cell cycle arrest and therapeutic benefit in vivo in a CLL mouse model.
Blood
; 134(5): 432-444, 2019 08 01.
Article
in English
| MEDLINE | ID: mdl-31151986
10.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Article
in English
| MEDLINE | ID: mdl-31992191
11.
CLEAR: coverage-based limiting-cell experiment analysis for RNA-seq.
J Transl Med
; 18(1): 63, 2020 02 10.
Article
in English
| MEDLINE | ID: mdl-32039730
12.
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
J Med Genet
; 56(6): 347-357, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30962250
13.
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
J Med Genet
; 56(7): 453-460, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30890586
14.
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
Int J Cancer
; 145(2): 401-414, 2019 07 15.
Article
in English
| MEDLINE | ID: mdl-30623411
15.
Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells.
Int J Mol Sci
; 20(3)2019 02 06.
Article
in English
| MEDLINE | ID: mdl-30736279
16.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet
; 25(11): 2256-2268, 2016 06 01.
Article
in English
| MEDLINE | ID: mdl-27008870
17.
Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry.
Breast Cancer Res
; 19(1): 30, 2017 03 16.
Article
in English
| MEDLINE | ID: mdl-28302160
18.
Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.
Breast Cancer Res
; 19(1): 127, 2017 Nov 28.
Article
in English
| MEDLINE | ID: mdl-29183387
19.
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J Med Genet
; 53(8): 548-58, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27060066
20.
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Hum Mol Genet
; 23(14): 3666-80, 2014 Jul 15.
Article
in English
| MEDLINE | ID: mdl-24569164