William L. Macken

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Carles Hernandéz-Ferrer, Davide Piscia, Enzo Cohen et al. · European Journal of Human Genetics · 2021 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +17

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

William L. Macken, Micol Falabella, Caroline McKittrick et al. · Nature Communications · 2022 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Lindsay A. Wilson, William L. Macken, Luke Perry et al. · Brain · 2023 · 30 citations · Full text

Life Sciences, Genetics, Neurology +13

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 · 25 citations · Full text

Life Sciences, Genetics, Neurology +17