Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

Publications

Recent publications published by researchers at the MRC WIMM.

Patient-derived malignant pleural mesothelioma cell cultures: a tool to advance biomarker-driven treatments.

Kanellakis NI. et al, (2020), Thorax

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Calpena E. et al, (2020), Genet Med, 22, 1498 - 1506

CSynth: An Interactive Modelling and Visualisation Tool for 3D Chromatin Structure.

Todd S. et al, (2020), Bioinformatics

CaptureCompendium: a comprehensive toolkit for 3C analysis

Telenius J. et al, (2020)

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.

Roy NBA. et al, (2020), Rheumatology (Oxford), 59, 448 - 451

An integrated platform to systematically identify causal variants and genes for polygenic human traits

Downes D. et al, (2019)

Unravelling Intratumoral Heterogeneity through High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing.

Rodriguez-Meira A. et al, (2019), Mol Cell, 73, 1292 - 1305.e8

CSynth: A Dynamic Modelling and Visualisation Tool for 3D Chromatin Structure

Todd S. et al, (2019)

A Comprehensive Analysis of Key Immune Checkpoint Receptors on Tumor-Infiltrating T Cells From Multiple Types of Cancer.

Li X. et al, (2019), Front Oncol, 9

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Zhou Y. et al, (2018), Hum Mutat, 39, 1360 - 1365

Germinal Center B Cells Replace Their Antigen Receptors in Dark Zones and Fail Light Zone Entry when Immunoglobulin Gene Mutations are Damaging.

Stewart I. et al, (2018), Immunity, 49, 477 - 489.e7

Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Farmery JHR. et al, (2018), Sci Rep, 8

Sequencing of human genomes extracted from single cancer cells isolated in a valveless microfluidic device.

Marie R. et al, (2018), Lab Chip, 18, 1891 - 1902

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF. et al, (2018), Am J Hum Genet, 102, 1195 - 1203

Sequencing Metrics of Human Genomes Extracted from Single Cancer Cells Individually Isolated in a Valveless Microfluidic Device

Marie R. et al, (2018)

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Farmery JHR. et al, (2018), Sci Rep, 8

Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints.

Schwessinger R. et al, (2017), Genome Res, 27, 1730 - 1742

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

Schwerd T. et al, (2017), J Exp Med, 214, 2547 - 2562

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

Kim S. et al, (2017), Hum Mol Genet, 26, 2118 - 2132

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Miller KA. et al, (2017), J Med Genet, 54, 260 - 268

Load More

1
2
3
4
5

Include forthcoming?