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Publications

Recent publications published by researchers at the MRC WIMM.

CaptureCompendium: a comprehensive toolkit for 3C analysis

Telenius J. et al, (2020)

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

Downes D. et al, (2019)

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

Roy NBA. et al, (2019), Rheumatology (Oxford)

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

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.

Goos JAC. et al, (2016), Hum Mutat, 37, 732 - 736

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Fenwick AL. et al, (2016), Am J Hum Genet, 99, 125 - 138

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

Twigg SRF. et al, (2016), Am J Hum Genet, 98, 1256 - 1265

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