Genomic trade-offs: are autism and schizophrenia the steep price of the human brain?

Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence

(2017) Suzanne Sniekers et al.   NATURE GENETICS

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication

(2016) Roberta Milone et al.   European Journal of Medical Genetics

Rare genetic variants and schizophrenia

(2016) Jonathan Flint   NATURE NEUROSCIENCE

Autism As a Disorder of High Intelligence

(2016) Bernard J. Crespi   Frontiers in Neuroscience

A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification

(2016) M. Florio et al.   Science Advances

Phylogenetic Analysis Supports a Link between DUF1220 Domain Number and Primate Brain Expansion

(2015) Fabian Zimmer et al.   Genome Biology and Evolution

Replicated linear association between DUF1220 copy number and severity of social impairment in autism

(2015) J. M. Davis et al.   HUMAN GENETICS

Molecular Genetic Evidence for Shared Etiology of Autism and Prodigy

(2015) Joanne Ruthsatz et al.   HUMAN HEREDITY

Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion

(2015) M. Florio et al.   SCIENCE

Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample

(2015) Emma Colvert et al.   JAMA Psychiatry

DUF1220 copy number is associated with schizophrenia risk and severity: implications for understanding autism and schizophrenia as related diseases

(2015) V B Searles Quick et al.   Translational Psychiatry

DUF1220 protein domains drive proliferation in human neural stem cells and are associated with increased cortical volume in anthropoid primates

(2014) J. G. Keeney et al.   Brain Structure & Function

The case for DUF1220 domain dosage as a primary contributor to anthropoid brain expansion

(2014) Jonathon G. Keeney et al.   Frontiers in Human Neuroscience

DUF1220 copy number is linearly associated with increased cognitive function as measured by total IQ and mathematical aptitude scores

(2014) Jonathon M. Davis et al.   HUMAN GENETICS

The Familial Risk of Autism

(2014) Sven Sandin et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Generation of Mice Lacking DUF1220 Protein Domains: Effects on Fecundity and Hyperactivity

(2014) J. G. Keeney et al.   MAMMALIAN GENOME

Common genetic variants associated with cognitive performance identified using the proxy-phenotype method

(2014) C. A. Rietveld et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DUF1220 Dosage Is Linearly Associated with Increasing Severity of the Three Primary Symptoms of Autism

(2014) Jonathan M. Davis et al.   PLoS Genetics

Digital Genotyping of Macrosatellites and Multicopy Genes Reveals Novel Biological Functions Associated with Copy Number Variation of Large Tandem Repeats

(2014) Manisha Brahmachary et al.   PLoS Genetics

NBPF is a potential DNA-binding transcription factor that is directly regulated by NF-κB

(2013) Fei Zhou et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

High rate of disease-related copy number variations in childhood onset schizophrenia

(2013) K Ahn et al.   MOLECULAR PSYCHIATRY

GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment

(2013) C. A. Rietveld et al.   SCIENCE

Evolutionary History and Genome Organization of DUF1220 Protein Domains

(2013) Majesta S. O’Bleness et al.   G3-Genes Genomes Genetics

DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution

(2012) Laura J. Dumas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The remarkable, yet not extraordinary, human brain as a scaled-up primate brain and its associated cost

(2012) S. Herculano-Houzel   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Brain Volumes in Schizophrenia: A Meta-Analysis in Over 18 000 Subjects

(2012) Sander V. Haijma et al.   SCHIZOPHRENIA BULLETIN

Fecundity of Patients With Schizophrenia, Autism, Bipolar Disorder, Depression, Anorexia Nervosa, or Substance Abuse vs Their Unaffected Siblings

(2012) Robert A. Power et al.   JAMA Psychiatry

Neuron Number and Size in Prefrontal Cortex of Children With Autism

(2011) Eric Courchesne et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

‘The missing genes: what happened to the heritability of psychiatric disorders?’

(2011) T J Crow   MOLECULAR PSYCHIATRY

Chibby interacts with NBPF1 and clusterin, two candidate tumor suppressors linked to neuroblastoma

(2010) Karl Vandepoele et al.   EXPERIMENTAL CELL RESEARCH

The ethics of using transgenic non-human primates to study what makes us human

(2010) Marilyn E. Coors et al.   NATURE REVIEWS GENETICS

The genetics of normal and defective color vision

(2010) Jay Neitz et al.   VISION RESEARCH

Characteristics and Concordance of Autism Spectrum Disorders Among 277 Twin Pairs

(2009) Rebecca E. Rosenberg et al.   ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE

ORIGINAL ARTICLE: Genomic sister-disorders of neurodevelopment: an evolutionary approach

(2009) Bernard Crespi et al.   Evolutionary Applications

The human brain in numbers: a linearly scaled-up primate brain

(2009) Suzana Herculano-Houzel   Frontiers in Human Neuroscience

Comparative genomics of autism and schizophrenia

(2009) B. Crespi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Psychosis and autism as diametrical disorders of the social brain

(2008) Bernard Crespi et al.   BEHAVIORAL AND BRAIN SCIENCES

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE