Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Publications

Recent publications published by researchers at the MRC WIMM.

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Calpena E. et al, (2021), Hum Mutat, 42, 811 - 817

A blood atlas of COVID-19 defines hallmarks of disease severity and specificity

COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium None. et al, (2021)

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.

Calpena E. et al, (2021), J Med Genet

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

Kanellakis NI. et al, (2020), Thorax

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

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

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)

BMP2 or not BMP2? A SMAD6-related question in craniosynostosis

Calpena E. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1277 - 1278

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)

Load More

1
2
3
4
5
6

Include forthcoming?