Author details

Full Name

Georgina L Ryland

Affiliation

ORCID

Career Start Year

2011

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37280781	Variant acute promyelocytic leukaemia with novel NAB2::RARA fusion shows clinical all-trans retinoic acid and arsenic trioxide sensitivity.		2023
36179268	Description of a novel subtype of acute myeloid leukemia defined by recurrent CBFB insertions.	Blood	2023
38024622	Persistence of tandem duplications in remission in acute myeloid leukaemia.		2023
37883795	CAR T-cells and Time-Limited Ibrutinib as Treatment for Relapsed/Refractory Mantle Cell Lymphoma: Phase II TARMAC Study.		2023
35192684	Enhancer retargeting of CDX2 and UBTF::ATXN7L3 define a subtype of high-risk B-progenitor acute lymphoblastic leukemia.	Blood	2022
35381620	Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.	Br J Haematol	2022
35482550	ALLSorts: an RNA-Seq subtype classifier for B-cell acute lymphoblastic leukemia.	Blood advances	2022
34991664	JAFFAL: detecting fusion genes with long-read transcriptome sequencing.		2022
34031553	T cell receptor beta locus sequencing early post-allogeneic stem cell transplant identifies patients at risk of initial and recurrent cytomegalovirus infection.	Bone Marrow Transplantation	2021
32054657	Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.	Haematologica	2021
34151721	Cryptic molecular lesion in acute promyelocytic leukemia with negative initial FISH.	Leuk Lymphoma	2021
32576910	Publisher Correction: CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing.	Sci Rep	2020
31942822	Severe chemotherapy toxicity in a 10-year-old with T-acute lymphoblastic lymphoma harboring biallelic variants.	Leukemia and Lymphoma	2020
32488879	A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.	Br J Haematol	2020
32648276	Inotuzumab ozogamicin resistance associated with a novel CD22 truncating mutation in a case of B-acute lymphoblastic leukaemia.	Br J Haematol	2020
32581061	High dose-rate brachytherapy of localized prostate cancer converts tumors from cold to hot.	Journal for ImmunoTherapy of Cancer	2020
31015508	CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing.	Sci Rep	2019
29233820	Adaptive reprogramming of NK cells in X-linked lymphoproliferative syndrome.	Blood	2018
28801348	Incidental detection of germline variants of potential clinical significance by massively parallel sequencing in haematological malignancies.	Journal of Clinical Pathology	2018
28880377	Detection of clinically relevant early genomic lesions in B-cell malignancies from circulating tumour DNA using a single hybridisation-based next generation sequencing assay.	Br J Haematol	2018
28792266	Comprehensive genomic characterization dissects the complex biology of a case of synchronous Burkitt lymphoma and myeloid malignancy with shared hematopoietic ancestry.	Leukemia and Lymphoma	2018
30546832	Frequent activating STAT3 mutations and novel recurrent genomic abnormalities detected in breast implant-associated anaplastic large cell lymphoma.	Oncotarget	2018
29899297	Molecular Mechanisms of Disease Progression in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type during Ibrutinib Therapy.	International Journal of Molecular Sciences	2018
29760015	Novel genomic findings in multiple myeloma identified through routine diagnostic sequencing.	Journal of Clinical Pathology	2018
29425073	Sensitive NPM1 Mutation Quantitation in Acute Myeloid Leukemia Using Ultradeep Next-Generation Sequencing in the Diagnostic Laboratory.		2018
28081715	Erratum to: Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.	Genome Med	2017
29016571	Prevalence and timing of TP53 mutations in del(17p) myeloma and effect on survival.	Blood Cancer Journal	2017
29246107	Canary: an atomic pipeline for clinical amplicon assays.	BMC Bioinformatics	2017
29242575	ASXL1 c.1934dup;p.Gly646Trpfs*12-a true somatic alteration requiring a new approach.	Blood Cancer Journal	2017
28181564	Multiplexed transcriptome analysis to detect ALK, ROS1 and RET rearrangements in lung cancer.	Scientific Reports	2017
26257827	Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.	Genome Med	2015
26231170	Loss of heterozygosity: what is it good for?	BMC Med Genomics	2015
26506417	Molecular profiling of low grade serous ovarian tumours identifies novel candidate driver genes.	Oncotarget	2015
24752294	Bioinformatics pipelines for targeted resequencing and whole-exome sequencing of human and mouse genomes: a virtual appliance approach for instant deployment.	PLoS One	2014
24726640	Genomic aberrations of BRCA1-mutated fallopian tube carcinomas.	American Journal of Pathology	2014
25167919	Inferring copy number and genotype in tumour exome data.	BMC Genomics	2014
23096461	RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary.	J Pathol	2013
24073752	A simple consensus approach improves somatic mutation prediction accuracy.	Genome Med	2013
21990120	Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.	Hum Mutat	2012
22474122	CONTRA: copy number analysis for targeted resequencing.	Bioinformatics	2012
22536442	MicroRNA genes and their target 3'-untranslated regions are infrequently somatically mutated in ovarian cancers.	PLoS One	2012
23028338	Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.	PLoS Genet	2012
22214849	An activating Pik3ca mutation coupled with Pten loss is sufficient to initiate ovarian tumorigenesis in mice.	J Clin Invest	2012
21575258	Analysis of the mitogen-activated protein kinase kinase 4 (MAP2K4) tumor suppressor gene in ovarian cancer.	BMC Cancer	2011