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Elife|October 2, 2014
Origins and functional consequences of somatic mitochondrial DNA mutations in human cancerYoung Seok Ju, Ludmil B Alexandrov, Moritz Gerstung, et al.JAMA Neurology|April 17, 2013
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodiesMichael A Nalls, Raquel Duran, Grisel Lopez, et al.Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.Nature|June 26, 2020
Whole-genome sequencing of patients with rare diseases in a national health systemErnest Turro, William J Astle, Karyn Megy, et al.Brain : a Journal of Neurology|July 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversityLindsay A Wilson, William L Macken, Luke D Perry, et al.Nature Medicine|January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke de Boer, et al.Nature Communications|June 18, 2020
Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancerAndrea Strakova, Thomas J Nicholls, Adrian Baez-Ortega, et al.Acta Neuropathologica|May 28, 2019
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevitySven J van der Lee, Olivia J Conway, Iris Jansen, et al.Acta Neuropathologica|January 20, 2020
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevitySven J van der Lee, Olivia J Conway, Iris Jansen, et al.The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.Pageof 37