Recent publications published by researchers at the MRC WIMM.
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Journal article
Calpena E. et al, (2021), Hum Mutat, 42, 811 - 817
A blood atlas of COVID-19 defines hallmarks of disease severity and specificity
Working paper
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.
Journal article
Calpena E. et al, (2021), J Med Genet
Patient-derived malignant pleural mesothelioma cell cultures: a tool to advance biomarker-driven treatments.
Journal article
Kanellakis NI. et al, (2020), Thorax
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Journal article
Calpena E. et al, (2020), Genet Med, 22
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.
Journal article
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)
BMP2 or not BMP2? A SMAD6-related question in craniosynostosis
Conference paper
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.
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.
Journal article
Farmery JHR. et al, (2018), Sci Rep, 8
Sequencing of human genomes extracted from single cancer cells isolated in a valveless microfluidic device.
Journal article
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.
Journal article
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)