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Paper Details

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
4
2023
NDD, NDDs, SNVs, SVs, coding nuclear, distal variant, neurodevelopmental disorders, non-coding variants, nuclear and mitochondrial genomes, participants
Author NameAffiliation
Jonathan StephensUniversity of Cambridge, UK NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust
Eleanor DewhurstUniversity of Cambridge, UK NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust
Detelina GrozevaUniversity of Cambridge, Cardiff University
Kathleen StirrupsUniversity of Cambridge, UK NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust
Kathleen StirrupsUniversity of Cambridge, UK NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust
Christopher J PenkettUniversity of Cambridge, UK NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust
Louise C DaughertyUniversity of Cambridge, UK NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust
Louise C DaughertyUniversity of Cambridge, UK NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust
Dragana JosifovaGuy's and St Thomas' Hospital
Frances Lucy RaymondUniversity of Cambridge, UK NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust
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