Synaptic neurexin complexes: a molecular code for the logic of neural circuits

TC Südhof - Cell, 2017 - cell.com
Synapses are specialized junctions between neurons in brain that transmit and compute
information, thereby connecting neurons into millions of overlapping and interdigitated …

[HTML][HTML] Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders

PF Sullivan, DH Geschwind - Cell, 2019 - cell.com
Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

PF Sullivan, JRS Meadows, S Gazal, BDN Phan, X Li… - Science, 2023 - science.org
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

Autism spectrum disorder and schizophrenia: An updated conceptual review

A Jutla, J Foss‐Feig… - Autism …, 2022 - Wiley Online Library
Autism spectrum disorder (ASD) and schizophrenia (SCZ) are separate disorders, with
distinct clinical profiles and natural histories. ASD, typically diagnosed in childhood, is …

Comparative analyses of copy-number variation in autism spectrum disorder and schizophrenia reveal etiological overlap and biological insights

I Kushima, B Aleksic, M Nakatochi, T Shimamura… - Cell reports, 2018 - cell.com
Compelling evidence in Caucasian populations suggests a role for copy-number variations
(CNVs) in autism spectrum disorder (ASD) and schizophrenia (SCZ). We analyzed 1,108 …

Research domain criteria: strengths, weaknesses, and potential alternatives for future psychiatric research

CA Ross, RL Margolis - Complex Psychiatry, 2019 - karger.com
Abstract The Research Domain Criteria (RDoC) paradigm was launched 10 years ago as a
superior approach for investigation of mental illness. RDoC conceptualizes normal human …

From many to one to many—the search for causes of psychiatric illness

KS Kendler - JAMA psychiatry, 2019 - jamanetwork.com
The search for the causes of medical and psychiatric disorders has gone through 3 historical
phases. First, up until the mid-19th century, causes of illness were anecdotally recorded from …

Molecular genetics of 22q11. 2 deletion syndrome

BE Morrow, DM McDonald‐McGinn… - American journal of …, 2018 - Wiley Online Library
The 22q11. 2 deletion syndrome (22q11. 2DS) is a congenital malformation and
neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals …

Mechanisms underlying the comorbidity of schizophrenia and type 2 diabetes mellitus

Y Mizuki, S Sakamoto, Y Okahisa… - International Journal …, 2021 - academic.oup.com
The mortality rate of patients with schizophrenia is high, and life expectancy is shorter by 10
to 20 years. Metabolic abnormalities including type 2 diabetes mellitus (T2DM) are among …

Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons

CH Pak, T Danko, VR Mirabella… - Proceedings of the …, 2021 - National Acad Sciences
Heterozygous NRXN1 deletions constitute the most prevalent currently known single-gene
mutation associated with schizophrenia, and additionally predispose to multiple other …