Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations.

doi:10.1038/s41593-019-0564-3

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Article

Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations.

Nature neuroscience - 1 Feb 2020

Howrigan Daniel P, Rose Samuel A, Samocha Kaitlin E, Fromer Menachem, Cerrato Felecia, Chen Wei J, Churchhouse Claire, Chambert Kimberly, Chandler Sharon D, Daly Mark J, Dumont Ashley, Genovese Giulio, Hwu Hai-Gwo, Laird Nan, Kosmicki Jack A, Moran Jennifer L, Roe Cheryl, Singh Tarjinder, Wang Shi-Heng, Faraone Stephen V, Glatt Stephen J, McCarroll Steven A, Tsuang Ming, Neale Benjamin M

Abstract excerpt

Protein-coding de novo mutations (DNMs) are significant risk factors in many neurodevelopmental disorders, whereas schizophrenia (SCZ) risk associated with DNMs has thus far been shown to be modest. We analyzed DNMs from 1,695 SCZ-affected trios and 1,077 published SCZ-affected trios to better understand the contribution to SCZ risk. Among 2,772 SCZ probands, exome-wide DNM burden remained modest. Gene set...

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PMID: 31932770
DOI: 10.1038/s41593-019-0564-3
PMCID: PMC7007385

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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