Recent publications published by researchers at the MRC WIMM.
Patient-derived malignant pleural mesothelioma cell cultures: a tool to advance biomarker-driven treatments.
Journal article
Kanellakis NI. et al, (2020), Thorax
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Journal article
Calpena E. et al, (2020), Genet Med, 22, 1498 - 1506
CSynth: An Interactive Modelling and Visualisation Tool for 3D Chromatin Structure.
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Todd S. et al, (2020), Bioinformatics
CaptureCompendium: a comprehensive toolkit for 3C analysis
Journal article
Telenius J. et al, (2020)
Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.
Journal article
Roy NBA. et al, (2020), Rheumatology (Oxford), 59, 448 - 451
An integrated platform to systematically identify causal variants and genes for polygenic human traits
Journal article
Downes D. et al, (2019)
Unravelling Intratumoral Heterogeneity through High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing.
Journal article
Rodriguez-Meira A. et al, (2019), Mol Cell, 73, 1292 - 1305.e8
CSynth: A Dynamic Modelling and Visualisation Tool for 3D Chromatin Structure
Journal article
Todd S. et al, (2019)
A Comprehensive Analysis of Key Immune Checkpoint Receptors on Tumor-Infiltrating T Cells From Multiple Types of Cancer.
Journal article
Li X. et al, (2019), Front Oncol, 9
Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.
Journal article
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.
Journal article
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.
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Farmery JHR. et al, (2018), Sci Rep, 8
Sequencing of human genomes extracted from single cancer cells isolated in a valveless microfluidic device.
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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.
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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
Journal article
Marie R. et al, (2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
Journal article
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.
Journal article
Schwessinger R. et al, (2017), Genome Res, 27, 1730 - 1742
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
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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.
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Kim S. et al, (2017), Hum Mol Genet, 26, 2118 - 2132
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
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Miller KA. et al, (2017), J Med Genet, 54, 260 - 268