Ultra-rare and common genetic variant analysis converge to implicate negative selection and neuronal processes in the aetiology of schizophrenia

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

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 9.6K citations · Full text

MAGMA: Generalized Gene-Set Analysis of GWAS Data

Christiaan de Leeuw, Joris M. Mooij, Tom Heskes et al. · PLoS Computational Biology · 2015 · 3.8K citations · Full text

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Vassily Trubetskoy, Antonio F. Pardiñas, Ting Qi et al. · Nature · 2022 · 2.6K citations · Full text

Psychiatry, Genetics, Psychiatric Genetics +7

Schizophrenia risk from complex variation of complement component 4

Aswin Sekar, Heather de Rivera, Avery Davis et al. · Nature · 2016 · 2.4K citations · Full text

Psychiatry, Risk Prediction, Psychotic Disorder +8

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

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · 2019 · 1.8K citations · Full text

Genetics, Genomics, Clinical Genetics +22