Concepedia

A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure

Bronwyn E. Grinton, Erandee Robertson, Liam G. Fearnley, Ingrid E. Scheffer, Anthony G Marson, Terence J. O’Brien, William Owen Pickrell, Mark I. Rees, Sanjay M. Sisodiya, David J. Balding,

The American Journal of Human Genetics · 2022 · 11 citations · 45 references

DOIFull text

Open access

Concepts

References

45

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

, , +13

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

, , +17

The UK Biobank resource with deep phenotyping and genomic data

Clare Bycroft, Colin Freeman, Desislava Petkova et al. · Nature · 2018 · 9.7K citations · Full text

, , +16

Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy

Shikshya Shrestha, Steven M. Offer · Medical Epigenetics · 2016 · 9K citations · Full text

, , +17