Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution

A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism

(2019) Jonathan M. Davis et al.   AMERICAN JOURNAL OF PSYCHIATRY

Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation

(2018) Ikuo K. Suzuki et al.   CELL

Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis

(2018) Ian T. Fiddes et al.   CELL

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

(2018) J. M. Sikela et al.   HUMAN GENETICS

Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex

(2018) Marta Florio et al.   eLife

Transcriptional fates of human-specific segmental duplications in brain

(2018) Max L. Dougherty et al.   GENOME RESEARCH

Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex

(2017) Tomasz J. Nowakowski et al.   SCIENCE

Molecular Identity of Human Outer Radial Glia during Cortical Development

(2015) Alex A. Pollen et al.   CELL

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

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

(2015) M. Florio et al.   SCIENCE

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

Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome

(2014) Majesta O’Bleness et al.   BMC GENOMICS

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

Low-coverage single-cell mRNA sequencing reveals cellular heterogeneity and activated signaling pathways in developing cerebral cortex

(2014) Alex A Pollen et al.   NATURE BIOTECHNOLOGY

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

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

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

(2013) Santhosh Girirajan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

(2012) Megan Y. Dennis et al.   CELL

Evolution of genetic and genomic features unique to the human lineage

(2012) Majesta O'Bleness et al.   NATURE REVIEWS GENETICS

Neurogenic radial glia in the outer subventricular zone of human neocortex

(2010) David V. Hansen et al.   NATURE

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