Search details
1.
Whole exome sequencing of low grade serous ovarian carcinoma identifies genomic events associated with clinical outcome.
Gynecol Oncol
; 174: 157-166, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37207500
2.
Clinical and molecular characterization of ovarian carcinoma displaying isolated lymph node relapse.
Am J Obstet Gynecol
; 221(3): 245.e1-245.e15, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31055034
3.
Enhanced response rate to pegylated liposomal doxorubicin in high grade serous ovarian carcinomas harbouring BRCA1 and BRCA2 aberrations.
BMC Cancer
; 18(1): 16, 2018 01 03.
Article
in English
| MEDLINE | ID: mdl-29298688
4.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25125236
5.
Variant detection sensitivity and biases in whole genome and exome sequencing.
BMC Bioinformatics
; 15: 247, 2014 Jul 19.
Article
in English
| MEDLINE | ID: mdl-25038816
6.
Quantifying single nucleotide variant detection sensitivity in exome sequencing.
BMC Bioinformatics
; 14: 195, 2013 Jun 18.
Article
in English
| MEDLINE | ID: mdl-23773188
7.
Distinct histopathological features are associated with molecular subtypes and outcome in low grade serous ovarian carcinoma.
Sci Rep
; 13(1): 7681, 2023 05 11.
Article
in English
| MEDLINE | ID: mdl-37169775
8.
In Vivo Modeling of Patient Genetic Heterogeneity Identifies New Ways to Target Cholangiocarcinoma.
Cancer Res
; 82(8): 1548-1559, 2022 04 15.
Article
in English
| MEDLINE | ID: mdl-35074757
9.
Multiomic Characterization of High-Grade Serous Ovarian Carcinoma Enables High-Resolution Patient Stratification.
Clin Cancer Res
; 28(16): 3546-3556, 2022 08 15.
Article
in English
| MEDLINE | ID: mdl-35696721
10.
Integrated molecular characterisation of endometrioid ovarian carcinoma identifies opportunities for stratification.
NPJ Precis Oncol
; 5(1): 47, 2021 Jun 02.
Article
in English
| MEDLINE | ID: mdl-34079052
11.
Molecular stratification of endometrioid ovarian carcinoma predicts clinical outcome.
Nat Commun
; 11(1): 4995, 2020 10 05.
Article
in English
| MEDLINE | ID: mdl-33020491
12.
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.
Sci Rep
; 9(1): 10964, 2019 07 29.
Article
in English
| MEDLINE | ID: mdl-31358886
13.
CAG-encoded polyglutamine length polymorphism in the human genome.
BMC Genomics
; 8: 126, 2007 May 22.
Article
in English
| MEDLINE | ID: mdl-17519034
14.
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Invest Ophthalmol Vis Sci
; 58(1): 594-603, 2017 01 01.
Article
in English
| MEDLINE | ID: mdl-28129423
15.
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.
Mol Genet Genomic Med
; 2(4): 319-25, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-25077174
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