Mitochondrial <scp>D</scp><scp>NA</scp> Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological DiseasesOlivia V. Poole, Robert D. S. Pitceathly, William L. Macken et al.|Annals of Neurology|2021Cited by 25
Biallelic <i>PTPMT1</i> variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndromeMicol Falabella, Robert D. S. Pitceathly, Chiara Pizzamiglio et al.|Brain|2024Cited by 11