Multiplex Portuguese Families as a Lens into rare mutations and the Shared Genetic Architecture of Schizophrenia, Mood Disorders, and Autism Spectrum Disorders
Carlos N. Pato, Michele T. Pato, Jennifer Mulle, Ronald P. Hart, Zhiping P. Pang, James A. Knowles, Tarjinder Singh, Priya Maddhesiya, Célia Barreto Carvalho, Alison K. Merikangas, Helena Medeiros, Christopher P. Morley, Tim B. Bigdeli, Hamed Kazemi, John Drake, , Ayman H. Fanous
This study analyzes 173 multiplex Portuguese families to identify rare genetic variants associated with schizophrenia, mood disorders, and autism, finding a CHD2 mutation linked to diverse mental illness phenotypes.
Genomic psychiatry : · Jun 16, 2026Peer-reviewedGenetic & Genomic Medicine