POGZ truncating alleles cause syndromic intellectual disability

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A case of autism spectrum disorder arising from a de novo missense mutation in POGZ

(2015) Ryoko Fukai et al.   JOURNAL OF HUMAN GENETICS

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(2014) Wen F. Hu et al.   Annual Review of Genomics and Human Genetics

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

(2014) Ender Karaca et al.   CELL

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

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De novo mutations in schizophrenia implicate synaptic networks

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Large-scale discovery of novel genetic causes of developmental disorders

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Genome sequencing identifies major causes of severe intellectual disability

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Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

(2013) A. Jeremy Willsey et al.   CELL

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(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

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De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

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Human Genome Sequencing in Health and Disease

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(2011) Judith H Miles   GENETICS IN MEDICINE

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

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Autism spectrum features in Smith-Magenis syndrome

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Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries

(2010) H. J. Williams et al.   HUMAN MOLECULAR GENETICS

Cognitive and Behavioral Characterization of the Potocki-Lupski Syndrome (Duplication 17p11.2)

(2010) Diane E. Treadwell-Deering et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Human POGZ modulates dissociation of HP1α from mitotic chromosome arms through Aurora B activation

(2010) Ryu-Suke Nozawa et al.   NATURE CELL BIOLOGY

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lens Epithelium-derived Growth Factor/p75 Interacts with the Transposase-derived DDE Domain of PogZ

(2009) Koen Bartholomeeusen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS