Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 12 of 27 entries
Sorted by: Best Match Show Resources per page
Molecular etiology of an indolent lymphoproliferative disorder determined by whole-genome sequencing.

Cold Spring Harbor molecular case studies

Parker JD, Shen Y, Pleasance E, Li Y, Schein JE, Zhao Y, Moore R, Wegrzyn-Woltosz J, Savage KJ, Weng AP, Gascoyne RD, Jones S, Marra M, Laskin J, Karsan A.
PMID: 27148583
Cold Spring Harb Mol Case Stud. 2016 Mar;2(2):a000679. doi: 10.1101/mcs.a000679.

In an attempt to assess potential treatment options, whole-genome and transcriptome sequencing were performed on a patient with an unclassifiable small lymphoproliferative disorder. Variants from genome sequencing were prioritized using a combination of comparative variant distributions in a spectrum...

An evaluation of atmospheric pressure ionization techniques for the analysis of N-Methyl carbamate pesticides by liquid chromatography mass spectrometry.

Journal of the American Society for Mass Spectrometry

Pleasance S, Anacleto JF, Bailey MR, North DH.
PMID: 24243049
J Am Soc Mass Spectrom. 1992 May;3(4):378-97. doi: 10.1016/1044-0305(92)87066-8.

Atmospheric pressure ionization (API) techniques are evaluated for the mass spectral analysis of N-methyl carbamate pesticides. Atmospheric pressure chemical ionization (APCI) using a heated nebulizer interface provided both protonated molecules and abundant, characteristic fragment ions. With ion spray (ISP;...

NTRK2 Fusion driven pediatric glioblastoma: Identification of oncogenic Drivers via integrative Genome and transcriptome profiling.

Clinical case reports

Britton HM, Levine AB, Shen Y, Mungall K, Serrano J, Snuderl M, Pleasance E, Jones SJM, Laskin J, Marra MA, Rassekh SR, Deyell R, Yip S, Cheng S, Dunham C.
PMID: 33768871
Clin Case Rep. 2021 Feb 10;9(3):1472-1477. doi: 10.1002/ccr3.3804. eCollection 2021 Mar.

This is the first report of a NACC2-NTRK2 fusion in a histological glioblastoma. Oncogenomic analysis revealed this actionable fusion oncogene in a pediatric cerebellar glioblastoma, which would not have been identified through routine diagnostics, demonstrating the value of clinical...

Uncovering Clinically Relevant Gene Fusions with Integrated Genomic and Transcriptomic Profiling of Metastatic Cancers.

Clinical cancer research : an official journal of the American Association for Cancer Research

Tsang ES, Grisdale CJ, Pleasance E, Topham JT, Mungall K, Reisle C, Choo C, Carreira M, Bowlby R, Karasinska JM, MacMillan D, Williamson LM, Chuah E, Moore RA, Mungall AJ, Zhao Y, Tessier-Cloutier B, Ng T, Sun S, Lim HJ, Schaeffer DF, Renouf DJ, Yip S, Laskin J, Marra MA, Jones SJM, Loree JM.
PMID: 33148671
Clin Cancer Res. 2021 Jan 15;27(2):522-531. doi: 10.1158/1078-0432.CCR-20-1900. Epub 2020 Nov 04.

PURPOSE: Gene fusions are important oncogenic drivers and many are actionable. Whole-genome and transcriptome (WGS and RNA-seq, respectively) sequencing can discover novel clinically relevant fusions.EXPERIMENTAL DESIGN: Using WGS and RNA-seq, we reviewed the prevalence of fusions in a cohort...

Computers. 1. Learning with CAL and PLATO.

Nursing mirror

Pleasance P, Townsend I, Norman S.
PMID: 6338486
Nurs Mirror. 1983 Feb 02;156(5):36-8.

No abstract available.

When legal rights are not a reality: do individuals know their rights and how can we tell?.

The Journal of social welfare & family law

Denvir C, Balmer NJ, Pleasence P.
PMID: 25045215
J Soc Welf Fam Law. 2013 Mar;35(1):139-160. doi: 10.1080/09649069.2013.774764.

Public knowledge of rights has been the subject of a number of empirical enquiries over the last decade. In England and Wales, knowledge of rights and its relationship with an individual's capacity to 'self-help' and 'self-represent' when faced with...

Complete Genome Sequence of .

Genome announcements

Hasan NA, Warren RL, Epperson LE, Malecha A, Alexander DC, Turenne CY, MacMillan D, Birol I, Pleasance S, Coope R, Jones SJM, Romney MG, Ng M, Chan T, Rodrigues M, Tang P, Gardy JL, Strong M.
PMID: 28912319
Genome Announc. 2017 Sep 14;5(37). doi: 10.1128/genomeA.00963-17.

No abstract available.

A Scalable Strand-Specific Protocol Enabling Full-Length Total RNA Sequencing From Single Cells.

Frontiers in genetics

Haile S, Corbett RD, LeBlanc VG, Wei L, Pleasance S, Bilobram S, Nip KM, Brown K, Trinh E, Smith J, Trinh DL, Bala M, Chuah E, Coope RJN, Moore RA, Mungall AJ, Mungall KL, Zhao Y, Hirst M, Aparicio S, Birol I, Jones SJM, Marra MA.
PMID: 34149808
Front Genet. 2021 Jun 03;12:665888. doi: 10.3389/fgene.2021.665888. eCollection 2021.

RNA sequencing (RNAseq) has been widely used to generate bulk gene expression measurements collected from pools of cells. Only relatively recently have single-cell RNAseq (scRNAseq) methods provided opportunities for gene expression analyses at the single-cell level, allowing researchers to...

Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell reports

Zhang Y, Chen F, Pleasance E, Williamson L, Grisdale CJ, Titmuss E, Laskin J, Jones SJM, Cortes-Ciriano I, Marra MA, Creighton CJ.
PMID: 34788622
Cell Rep. 2021 Nov 16;37(7):110023. doi: 10.1016/j.celrep.2021.110023.

The global impact of somatic structural variants (SVs) on gene regulation in advanced tumors with complex treatment histories has been mostly uncharacterized. Here, using whole-genome and RNA sequencing from 570 recurrent or metastatic tumors, we report the altered expression...

A Study of Professional Awareness Using Immersive Virtual Reality: The Responses of General Practitioners to Child Safeguarding Concerns.

Frontiers in robotics and AI

Pan X, Collingwoode-Williams T, Antley A, Brenton H, Congdon B, Drewett O, Gillies MFP, Swapp D, Pleasence P, Fertleman C, Delacroix S.
PMID: 33500959
Front Robot AI. 2018 Jul 12;5:80. doi: 10.3389/frobt.2018.00080. eCollection 2018.

The art of picking up signs that a child may be suffering from abuse at home is one of those skills that cannot easily be taught, given its dependence on a range of non-cognitive abilities. It is also difficult...

Optimization of magnetic bead-based nucleic acid extraction for SARS-CoV-2 testing using readily available reagents.

Journal of virological methods

Haile S, Nikiforuk AM, Pandoh PK, Twa DDW, Smailus DE, Nguyen J, Pleasance S, Wong A, Zhao Y, Eisler D, Moksa M, Cao Q, Wong M, Su E, Krzywinski M, Nelson J, Mungall AJ, Tsang F, Prentice LM, Jassem A, Manges AR, Jones SJM, Coope RJ, Prystajecky N, Marra MA, Krajden M, Hirst M.
PMID: 34687784
J Virol Methods. 2022 Jan;299:114339. doi: 10.1016/j.jviromet.2021.114339. Epub 2021 Oct 20.

The COVID-19 pandemic has highlighted the need for generic reagents and flexible systems in diagnostic testing. Magnetic bead-based nucleic acid extraction protocols using 96-well plates on open liquid handlers are readily amenable to meet this need. Here, one such...

Clinical and cost outcomes following genomics-informed treatment for advanced cancers.

Cancer medicine

Weymann D, Pollard S, Chan B, Titmuss E, Bohm A, Laskin J, Jones SJM, Pleasance E, Nelson J, Fok A, Lim H, Karsan A, Renouf DJ, Schrader KA, Sun S, Yip S, Schaeffer DF, Marra MA, Regier DA.
PMID: 34152087
Cancer Med. 2021 Aug;10(15):5131-5140. doi: 10.1002/cam4.4076. Epub 2021 Jun 21.

BACKGROUND: Single-arm trials are common in precision oncology. Owing to the lack of randomized counterfactual, resultant data are not amenable to comparative outcomes analyses. Difference-in-difference (DID) methods present an opportunity to generate causal estimates of time-varying treatment outcomes. Using...

Showing 1 to 12 of 27 entries