Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

BS Abrahams, 2008, Advances in autism genetics: on the threshold of a new neurobiology., Nat Rev Genet, 9, 341, 10.1038/nrg2346

A Bailey, 1995, Autism as a strongly genetic disorder: evidence from a British twin study., Psychol Med, 25, 63, 10.1017/S0033291700028099

S Steffenburg, 1989, A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden., J Child Psychol Psychiatry, 30, 405, 10.1111/j.1469-7610.1989.tb00254.x

RM Cantor, 2005, Replication of autism linkage: fine-mapping peak at 17q21., Am J Hum Genet, 76, 1050, 10.1086/430278

JA Vorstman, 2006, Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism., Mol Psychiatry, 11, 1, 10.1038/sj.mp.4001757

P Szatmari, 2007, Mapping autism risk loci using genetic linkage and chromosomal rearrangements., Nat Genet, 39, 319, 10.1038/ng1985

J Sebat, 2007, Strong association of de novo copy number mutations with autism., Science, 316, 445, 10.1126/science.1138659

CR Marshall, 2008, Structural variation of chromosomes in autism spectrum disorder., Am J Hum Genet, 82, 477, 10.1016/j.ajhg.2007.12.009

ML Jacquemont, 2006, Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders., J Med Genet, 43, 843, 10.1136/jmg.2006.043166

RA Kumar, 2007, Recurrent 16p11.2 microdeletions in autism., Hum Mol Genet

LA Weiss, 2008, Association between Microdeletion and Microduplication at 16p11.2 and Autism., N Engl J Med

AJ Sharp, 2008, A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures., Nat Genet, 40, 322, 10.1038/ng.93

HC Mefford, 2008, Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes., N Engl J Med, 359, 1685, 10.1056/NEJMoa0805384

M Alarcon, 2008, Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene., Am J Hum Genet, 82, 150, 10.1016/j.ajhg.2007.09.005

HG Kim, 2008, Disruption of neurexin 1 associated with autism spectrum disorder., Am J Hum Genet, 82, 199, 10.1016/j.ajhg.2007.09.011

EM Morrow, 2008, Identifying autism loci and genes by tracing recent shared ancestry., Science, 321, 218, 10.1126/science.1157657

JT Glessner, 2009, Autism genome-wide copy number variation reveals ubiquitin and neuronal genes., Nature

DH Geschwind, 2001, The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions., Am J Hum Genet, 69, 463, 10.1086/321292

MA Nalls, 2009, Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics., PLoS Genet, 5, e1000415, 10.1371/journal.pgen.1000415

K Wang, 2007, PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data., Genome Res, 17, 1665, 10.1101/gr.6861907

SL Christian, 2008, Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder., Biol Psychiatry, 63, 1111, 10.1016/j.biopsych.2008.01.009

G Cai, 2008, Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT., BMC Med Genomics, 1, 50, 10.1186/1755-8794-1-50

CL Martin, 2007, Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism., Am J Med Genet B Neuropsychiatr Genet, 144, 869, 10.1002/ajmg.b.30530

J Bond, 2002, ASPM is a major determinant of cerebral cortical size., Nat Genet, 32, 316, 10.1038/ng995

B Bakkaloglu, 2008, Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders., Am J Hum Genet, 82, 165, 10.1016/j.ajhg.2007.09.017

KA Strauss, 2006, Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2., N Engl J Med, 354, 1370, 10.1056/NEJMoa052773

J Feng, 2006, High frequency of neurexin 1beta signal peptide structural variants in patients with autism., Neurosci Lett, 409, 10, 10.1016/j.neulet.2006.08.017

J Yan, 2008, Neurexin 1alpha structural variants associated with autism., Neurosci Lett, 438, 368, 10.1016/j.neulet.2008.04.074

S Jamain, 2003, Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism., Nat Genet, 34, 27, 10.1038/ng1136

D Comoletti, 2004, The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing., J Neurosci, 24, 4889, 10.1523/JNEUROSCI.0468-04.2004

F Laumonnier, 2004, X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family., Am J Hum Genet, 74, 552, 10.1086/382137

J Yan, 2005, Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients., Mol Psychiatry, 10, 329, 10.1038/sj.mp.4001629

P Scheiffele, 2000, Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons., Cell, 101, 657, 10.1016/S0092-8674(00)80877-6

ER Graf, 2004, Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins., Cell, 119, 1013, 10.1016/j.cell.2004.11.035

T Sadakata, 2007, Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients., J Clin Invest, 117, 931, 10.1172/JCI29031

T Walsh, 2008, Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia., Science, 320, 539, 10.1126/science.1155174

Y Wang, 2000, The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins., J Biol Chem, 275, 20033, 10.1074/jbc.M909008199

HY Zoghbi, 2003, Postnatal neurodevelopmental disorders: meeting at the synapse?, Science, 302, 826, 10.1126/science.1089071

ED Litwack, 2004, Identification and characterization of two novel brain-derived immunoglobulin superfamily members with a unique structural organization., Mol Cell Neurosci, 25, 263, 10.1016/j.mcn.2003.10.016

T Fernandez, 2004, Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome., Am J Hum Genet, 74, 1286, 10.1086/421474

J Roohi, 2009, Disruption of contactin 4 in three subjects with autism spectrum disorder., J Med Genet, 46, 176, 10.1136/jmg.2008.057505

K Wang, 2009, Common genetic variants on 5p14.1 associate with autism spectrum disorders., Nature

EH Cook Jr, 1997, Autism or atypical autism in maternally but not paternally derived proximal 15q duplication., Am J Hum Genet, 60, 928

L Potocki, 2007, Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype., Am J Hum Genet, 80, 633, 10.1086/512864

1993, Identification and characterization of the tuberous sclerosis gene on chromosome 16., Cell, 75, 1305, 10.1016/0092-8674(93)90618-Z

RE Slager, 2003, Mutations in RAI1 associated with Smith-Magenis syndrome., Nat Genet, 33, 466, 10.1038/ng1126

P Bolton, 1994, A case-control family history study of autism., J Child Psychol Psychiatry, 35, 877, 10.1111/j.1469-7610.1994.tb02300.x

DV Bishop, 2004, Using self-report to identify the broad phenotype in parents of children with autistic spectrum disorders: a study using the Autism-Spectrum Quotient., J Child Psychol Psychiatry, 45, 1431, 10.1111/j.1469-7610.2004.00325.x

JK Millar, 2000, Disruption of two novel genes by a translocation co-segregating with schizophrenia., Hum Mol Genet, 9, 1415, 10.1093/hmg/9.9.1415

NA Sachs, 2005, A frameshift mutation in Disrupted in Schizophrenia 1 in an American family with schizophrenia and schizoaffective disorder., Mol Psychiatry, 10, 758, 10.1038/sj.mp.4001667

N Risch, 1999, A genomic screen of autism: evidence for a multilocus etiology., Am J Hum Genet, 65, 493, 10.1086/302497

A Rzhetsky, 2007, Probing genetic overlap among complex human phenotypes., Proc Natl Acad Sci U S A, 104, 11694, 10.1073/pnas.0704820104

W Bodmer, 2008, Common and rare variants in multifactorial susceptibility to common diseases., Nat Genet, 40, 695, 10.1038/ng.f.136

S Yang, 2009, Genomic landscape of a three-generation pedigree segregating affective disorder., PLoS ONE, 4, e4474, 10.1371/journal.pone.0004474

W Ji, 2008, Rare independent mutations in renal salt handling genes contribute to blood pressure variation., Nat Genet, 40, 592, 10.1038/ng.118

G Dennis Jr, 2003, DAVID: Database for Annotation, Visualization, and Integrated Discovery., Genome Biol, 4, P3, 10.1186/gb-2003-4-5-p3