Matthew F. Hunter

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Gillian Rice, Jacquelyn Bond, Aruna Asipu et al. · Nature Genetics · 2009 · 680 citations · Full text

Allergy, Autoimmune Disease, Pathogenesis +5

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen et al. · Genome biology · 2016 · 382 citations · Full text

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Zornitza Stark, Sebastian Lunke, Gemma R. Brett et al. · Genetics in Medicine · 2018 · 162 citations · Full text

Integrated multi-omics for rapid rare disease diagnosis on a national scale

Sebastian Lunke, Sophie E. Bouffler, Chirag Patel et al. · Nature Medicine · 2023 · 122 citations · Full text

Genetic Epidemiology, Diagnosis, Pathology +23

Phenotypic insights into <i>ADCY5</i>‐associated disease

Florence Chang, Ana Westenberger, Russell C. Dale et al. · Movement Disorders · 2016 · 121 citations · Full text