Author
University of CambridgeORCID 0000-0001-8054-8954Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Hetvi Jethwani, Kamal Khairudin Sukandar, Alistair P. Green…·Nick S. Jones
The paper maps concealed mitochondrial DNA mutations across 2.7 million cells from 311 individuals, finding that low-prevalence mutations accumulate with age and predict human age.
Bruce Nmezi, Guillermo Rodríguez Bey, Talia DeFrancesco Oranburg…·Quasar Saleem Padiath
The paper identifies a silencer element lost in ADLD patients that specifically targets oligodendrocyte overexpression of LMNB1, linking it to disease pathogenesis.
Marcy E. Richardson, Megan A. Holdren, Terra Brannan…·Fergus J. Couch
The paper specifies gene-specific rules for interpreting ATM variants using ACMG/AMP guidelines, improving classification accuracy in a pilot study.