William L. Macken

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

William L. Macken, Annie Godwin, Gabrielle Wheway et al. · Genome Medicine · 2021 · 37 citations · Full text

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

William L. Macken, Micol Falabella, Caroline McKittrick et al. · Nature Communications · 2022 · 28 citations · Full text

Neuromuscular disease genetics in under-represented populations: increasing data diversity

Lindsay A. Wilson, William L. Macken, Luke Perry et al. · Brain · 2023 · 24 citations · Full text

Mitochondrial <scp>D</scp><scp>NA</scp> Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

Olivia V. Poole, Chiara Pizzamiglio, David Murphy et al. · Annals of Neurology · 2021 · 23 citations · Full text

Mitochondrial Strokes: Diagnostic Challenges and Chameleons

Chiara Pizzamiglio, Enrico Bugiardini, William L. Macken et al. · Genes · 2021 · 13 citations · Full text

Neurological Disorder, Pathology, Cerebrovascular Disease +18