Emma Walsh

Improved RNA–DNA interaction calling suggests RNA-based gene regulation of phenotypic transitions

Simonida Zehr, Sandra Seredinski, Katalin Pálfi, James A. Oo et autres

Chromatin-localized RNAs play diverse roles in gene regulation and nuclear architecture. Mapping genome-wide RNA-DNA interactions is possible using a variety of molecular methods, including using bridging oligonucleotides to ligate RNA and DNA in proximity. While molecular methods have progressed, a robust computational …

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The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease

Elhussein A. E. Elhassan, Kane E. Collins, Sophia Heneghan, Edmund H. Gilbert et autres

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have also been reported to modify disease severity or …

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Detection of statistically robust interactions from diverse RNA-DNA ligation data

Simonida Zehr, Sandra Seredinski, Emma Walsh, Alessandro Bonetti et autres

Abstract Chromatin-localized RNAs play diverse roles in gene regulation and nuclear architecture. Mapping genome-wide RNA-DNA interactions is possible using a variety of molecular methods, including using bridging oligonucleotides to ligate RNA and DNA in proximity. While molecular methods have progressed, a robust …

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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil Karl Gustavsson et autres

Improvements in functional genomic annotation have led to a critical mass of neurogenetic discoveries. This is exemplified in hereditary ataxia, a heterogeneous group of disorders characterised by incoordination from cerebellar dysfunction. Associated pathogenic variants in more than 300 genes have been described, …

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Functional characterization of lncRNAs

Emma Walsh, Alessandro Bonetti

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RNA Versus Protein, How Structure Influences Targeting, a New Challenge for Drug Discovery

Alessandro Bonetti, Aurélie Lacroix, Emma Walsh, Alice Ghidini

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A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Xueqing Zou, Gene Ching Chiek Koh, Arjun Scott Nanda, Andrea Degasperi et autres

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Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma

Christine L. Jones, Andrea Degasperi, Vieri Grandi, Tauanne Dias Amarante et autres

T-cell non-Hodgkin's lymphomas develop following transformation of tissue resident T-cells. We performed a meta-analysis of whole exome sequencing data from 403 patients with eight subtypes of T-cell non-Hodgkin's lymphoma to identify mutational signatures and associated recurrent gene mutations. Signature 1, indicative of …

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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A. Hickman et autres

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Alistair T. Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, Sahar Isa Da'as et autres

The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix …

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