The paper identifies co-segregating RUBCN and KANK1 mutations in a UK ALS family, showing their association with disease and functional impact on cellular processes.

medRxiv · Jul 23, 2025 · PreprintGenetic & Genomic Medicine

Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis

Olivia A. Grant, Alfredo Iacoangeli, Ramona A.J. Zwamborn, Wouter van Rheenen, Ross Patrick Byrne, Kristel R. van Eijk, Kevin Patrick Kenna, Joke J.F.A. van Vugt, Johnathan Cooper‐Knock, Brendan Kenna, Atay Vural, Simon D. Topp, Yolanda Campos, Markus Weber, Bradley N. Smith, , Ahmad Al Khleifat

The paper identifies sex-associated DNA methylation differences in ALS using a large-scale epigenome-wide association study and links them to survival outcomes.

bioRxiv · Nov 22, 2024 · PreprintGenomics

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

Sali M.K. Farhan, Daniel P. Howrigan, Liam E. Abbott, Joseph R. Klim, Simon D. Topp, Andrea Byrnes, Claire L. Churchhouse, Hemali P. Phatnani, Bradley N. Smith, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, , Benjamin M. Neale

The paper identifies an enrichment of rare protein-truncating variants in ALS patients, highlighting novel genes like DNAJC7 and known ALS genes such as SOD1, NEK1, and FUS.

Nature Neuroscience · Nov 25, 2019Peer-reviewedGenomics

Detection of long repeat expansions from PCR-free whole-genome sequence data

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw, Mitchell A. Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S. Ajay, Vani Rajan, Bryan R. Lajoie, Nathan Johnson, Zoya Kingsbury, Sean Humphray, Raymond D. Schellevis, William J. Brands, Matt C. Baker, , Michael A. Eberle

The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.

Genome Research · Nov 1, 2017Peer-reviewedBioinformatics