POGZ truncating alleles cause syndromic intellectual disability

[1]  J. Lupski Cognitive phenotypes and genomic copy number variations. , 2015, JAMA.

[2]  Tom R. Gaunt,et al.  Copy number variations and cognitive phenotypes in unselected populations. , 2015, JAMA.

[3]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[4]  N. Matsumoto,et al.  A case of autism spectrum disorder arising from a de novo missense mutation in POGZ , 2015, Journal of Human Genetics.

[5]  J. Lupski,et al.  Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. , 2015, The Journal of clinical investigation.

[6]  Tomas W. Fitzgerald,et al.  Large-scale discovery of novel genetic causes of developmental disorders , 2014, Nature.

[7]  Xiang Li,et al.  Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions , 2014, Genetics in Medicine.

[8]  Boris Yamrom,et al.  The contribution of de novo coding mutations to autism spectrum disorder , 2014, Nature.

[9]  Magalie S Leduc,et al.  Molecular findings among patients referred for clinical whole-exome sequencing. , 2014, JAMA.

[10]  C. Walsh,et al.  The diverse genetic landscape of neurodevelopmental disorders. , 2014, Annual review of genomics and human genetics.

[11]  L. Vissers,et al.  Genome sequencing identifies major causes of severe intellectual disability , 2014, Nature.

[12]  J. Lupski,et al.  Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function , 2014, Cell.

[13]  Seungtai Yoon,et al.  De novo Mutations in Schizophrenia Implicate Chromatin Remodeling and Support a Genetic Overlap with Autism and Intellectual Disability , 2014, Molecular Psychiatry.

[14]  E. Banks,et al.  De novo mutations in schizophrenia implicate synaptic networks , 2014, Nature.

[15]  Michael Wigler,et al.  The role of de novo mutations in the genetics of autism spectrum disorders , 2014, Nature Reviews Genetics.

[16]  Wei Niu,et al.  Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism , 2013, Cell.

[17]  Magalie S Leduc,et al.  Clinical whole-exome sequencing for the diagnosis of mendelian disorders. , 2013, The New England journal of medicine.

[18]  S. Levy,et al.  De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia , 2012, Nature Genetics.

[19]  Toshiro K. Ohsumi,et al.  Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries , 2012, Cell.

[20]  Kenny Q. Ye,et al.  De Novo Gene Disruptions in Children on the Autistic Spectrum , 2012, Neuron.

[21]  Evan T. Geller,et al.  Patterns and rates of exonic de novo mutations in autism spectrum disorders , 2012, Nature.

[22]  J. Lupski,et al.  Human genome sequencing in health and disease. , 2012, Annual review of medicine.

[23]  J. Miles Autism spectrum disorders—A genetics review , 2011, Genetics in Medicine.

[24]  D. Grozeva,et al.  Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries. , 2011, Human molecular genetics.

[25]  G. Laje,et al.  Autism spectrum features in Smith–Magenis syndrome , 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

[26]  H. Kimura,et al.  Human POGZ modulates dissociation of HP1α from mitotic chromosome arms through Aurora B activation , 2010, Nature Cell Biology.

[27]  Leslie G Biesecker,et al.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. , 2010, American journal of human genetics.

[28]  L. Potocki,et al.  Cognitive and Behavioral Characterization of the Potocki-Lupski Syndrome (Duplication 17p11.2) , 2010, Journal of developmental and behavioral pediatrics : JDBP.

[29]  J. Rain,et al.  Lens Epithelium-derived Growth Factor/p75 Interacts with the Transposase-derived DDE Domain of PogZ* , 2009, Journal of Biological Chemistry.

[30]  Manuel Corpas,et al.  DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. , 2009, American journal of human genetics.

[31]  D. Pinto,et al.  Structural variation of chromosomes in autism spectrum disorder. , 2008, American journal of human genetics.

[32]  Kenny Q. Ye,et al.  Strong Association of De Novo Copy Number Mutations with Autism , 2007, Science.

[33]  J. Lupski,et al.  RAI1 point mutations, CAG repeat variation, and SNP analysis in non‐deletion Smith–Magenis syndrome , 2006, American journal of medical genetics. Part A.