Mathew Wallis

COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A

Christine Phillips-Krawczak, Amika Singla, Petro Starokadomskyy et al. · Molecular Biology of the Cell · 2014 · 241 citations · Full text

Molecular Biology, Cytoskeleton, Commd1 Deficiency Results +18

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

Haloom Rafehi, Justin Read, David J. Szmulewicz et al. · The American Journal of Human Genetics · 2022 · 159 citations · Full text

Pathology, Neurogenetics, Neurology +2

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

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Kushani Jayasinghe, Zornitza Stark, Peter G. Kerr et al. · Genetics in Medicine · 2020 · 118 citations · Full text

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

Petro Starokadomskyy, Nathan Gluck, Haiying Li et al. · Journal of Clinical Investigation · 2013 · 115 citations · Full text