Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathwaysElizabeth T. Cirulli, Wendy K. Chung, Neil A. Shneider et al.|Science|2015Cited by 980
Rare variant contribution to human disease in 281,104 UK Biobank exomesQuanli Wang, Anna Reznichenko, Ryan S. Dhindsa et al.|Nature|2021Cited by 597
Ultra-rare genetic variation in common epilepsies: a case-control sequencing studyAndrew S. Allen, Seo‐Kyung Chung, Patrick Cossette et al.|The Lancet Neurology|2017Cited by 234
Whole-genome sequencing of 490,640 UK Biobank participantsMagnús Ö. Úlfarsson, Keren Carss, Bjarni V. Halldórsson et al.|Nature|2025Cited by 89