Exome sequencing publications

1. Awadalla P, Gauthier J, Myers RA, et al. Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet 2010;87:316-24. PubMed

2. Ambalavanan A, Girard SL, Ahn K, et al. De novo variants in sporadic cases of childhood onset schizophrenia. Eur J Hum Genet 2016;24:944-8. PubMed

3. Fromer M, Pocklington AJ, Kavanagh DH, et al. De novo mutations in schizophrenia implicate synaptic networks. Nature 2014;506:179-84. PubMed

4. Genovese G, Fromer M, Stahl EA, et al. Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. Nat Neurosci 2016;19:1433-41. PubMed

5. Girard SL, Gauthier J, Noreau A, et al. Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet 2011;43:860-3. PubMed

6. Guipponi M, Santoni FA, Setola V, et al. Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes. PLoS One 2014;9:e112745. PubMed

7. Gulsuner S, Walsh T, Watts AC, et al. Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell 2013;154:518-29. PubMed

8. Kenny EM, Cormican P, Furlong S, et al. Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders. Mol Psychiatry 2014;19:872-9. PubMed

9. McCarthy SE, Gillis J, Kramer M, et al. De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability. Mol Psychiatry 2014;19:652-8. PubMed

10. Need AC, McEvoy JP, Gennarelli M, et al. Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. Am J Hum Genet 2012;91:303-12. PubMed

11. Purcell SM, Moran JL, Fromer M, et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature 2014;506:185-90. PubMed

12. Takata A, Xu B, Ionita-Laza I, et al. Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene. Neuron 2014;82:773-80. PubMed

13. Xu B, Roos JL, Dexheimer P, et al. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet 2011;43:864-8. PubMed

14. Xu B, Ionita-Laza I, Roos JL, et al. De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. Nat Genet 2012;44:1365-9. PubMed

15. Rees E, Han J, Morgan J, et al. De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia. Nat Neurosci 2020;23:179-184. PubMed
Probands carrying LoF or deletion DNVs in LoF-intolerant or neurodevelopmental disorder genes had significantly less overtransmission of schizophrenia polygenic risk than did non-carriers, which provides a second robust line of evidence that these DNVs increase liability to schizophrenia.

16. Howrigan DP, Rose SA, Samocha KE, et al. Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations. Nat Neurosci 2020;23:185-193. PubMed