Publications by authors named "D W MacArthur"

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Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, Julia K Goodrich, Michael W Wilson, Daniel G MacArthur

Nat Commun· October 2025

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How is rosette formation in brain tumours linked with cerebrospinal fluid spread?
Ashwin Kumaria, Keyoumars Ashkan, Donald C Macarthur

Brain Tumor Pathol· August 2025

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Impact of the COVID-19 pandemic on diagnosis and management of new brain tumours in children and young people (aged < 16 years old) in the UK.
Sara Venturini, Kalsoom Akhter, Shivani Rajkumar, Midhun Mohan, Andrew Dapaah, Donald C Macarthur

Childs Nerv Syst· August 2025

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Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating from a conserved enhancer locus.
Lucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau, Lachlan S W Knight, Giorgina Maxwell, Daniel G MacArthur

medRxiv· June 2025

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Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.
Matthew J Welland, K D Ahlquist, Paul De Fazio, Christina Austin-Tse, Lynn Pais, Daniel G MacArthur

medRxiv· May 2025

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