2016 International Meeting for Autism Research: Genetics

11:30 AM

23 22q11.2 Duplication Syndrome: Assessment of Autism Spectrum Disorder, Other Neuropsychiatric Symptoms, and Adaptive Skills
C. C. Clements L. M. DePolo A. de Marchena D. M. McDonald-McGinn E. H. Zackai B. Emanuel R. T. Schultz J. Miller T. L. Wegner

11:30 AM

144.024

24 A Comparison of Polygenic Contribution to Autism Spectrum Disorder Using Common, Rare and Copy Number Variants
K. Benke B. Sheppard K. M. Bakulski A. B. Singer C. Shu C. Ladd-Acosta C. J. Newschaffer M. D. Fallin

11:30 AM

144.025

25 A SHANK3 Point Mutation with Phelan-Mcdermid Phenotype, Notably without Autism Spectrum Disorder or Intellectual Deficits
C. Samango-Sprouse P. Lawson O. Goker-Alpan

11:30 AM

144.026

26 A System for Gene Ranking through Integrative Variant Annotation in Autism Spectrum Disorders
E. Larsen I. Menashe M. N. Ziats W. Pereanu S. B. Basu

11:30 AM

144.027

27 Association Between Copy-Number Variations and Savant Skills Among People with Autism Spectrum Disorder
H. Rosenthal I. Menashe

11:30 AM

144.028

28 Association of Dysfunctional Polymorphisms in Acetylserotonin O-Methyltransferase with Insomnia in ASD
O. J. Veatch Z. Warren J. S. Sutcliffe M. H. Potter A. L. Palmer B. A. Malow

11:30 AM

144.029

29 Autism Pathway Network Analyses Identify Overlaps with Other Disease Groups, Involve Many Functions and Converge upon MAPK and Calcium Signaling
Y. Wen M. Alshikho M. R. Herbert

11:30 AM

144.030

30 Autism Spectrum Symptomatology in Children with 7q11.23 Duplication Syndrome
B. P. Klein-Tasman C. B. Mervis

11:30 AM

144.031

31 Blood-Based Transcriptomic Mega-Analyses Comparing Individuals with Autism Spectrum Disorder and Unaffected Comparison Subjects
D. S. Tylee J. L. Hess T. P. Quinn R. Barve S. J. Glatt

11:30 AM

144.032

32 Brain Structure and Quantitative Trait Shifts in 16p11.2 De Novo Deletions Relative to Non-Carrier Siblings
A. M. Michael D. W. Evans A. Moreno De Luca C. C. Dougherty G. J. Moore

11:30 AM

144.033

33 Building the Open Information Commons for Autism Research and Discovery: The Hartwell Autism Research and Technology Initiative (iHART)
J. Y. Jung L. Perez-Cano M. Duda D. Kashef-Haghighi J. Kosmicki J. K. Lowe E. K. Ruzzo S. Sharma D. H. Geschwind D. Wall

11:30 AM

144.034

34 CNV Analysis and Exome Sequencing in Japanese Autism Spectrum Disorder Subjects
K. Nakamura I. Thanseem M. Tsujii N. Matsumoto

11:30 AM

144.035

35 Chinese Control Sample Collection for Genetic Studies of Autism Spectrum Disorder
S. An W. Zhou Q. Wu J. Zhang C. Yang H. Zhao B. Zhao S. Wang X. Zheng X. Yang J. Li H. Gao Y. Dou L. Yan M. Wang Y. Ye L. Wei

11:30 AM

144.036

36 Clinical Characterisation of Neurexin1 Deletions and Their Role in Neurodevelopmental Disorders
J. E. Fitzgerald J. Hall M. van den Bree R. Delorme T. Werge A. C. Tabet L. T. Duong H. Peeters I. Noens N. Cosemans S. Esteba M. Al-Shehhi R. Novell S. Lynch A. Green S. Shen L. Gallagher

11:30 AM

144.037

37 Comprehensive Autism Spectrum Screening for Infants (CASS-i): A Screening Tool for Autism Spectrum Disorder (ASD) and Developmental Learning Delay (DLD) and the Incidence of Copy Number Variance (CNV)
C. Samango-Sprouse C. Keen K. Haskell F. Aliabadi C. Parmele A. Gropman

11:30 AM

144.038

38 Effect of Autism Risk CNVs on Autistic and Neuropsychiatric Traits in a Population Based Adolescent Sample
E. Loth R. Toro J. B. Poline G. Huguet G. Schumann T. Bourgeron

11:30 AM

144.039

39 Familial Contribution to Clinical Variability in Social Responsiveness for Individuals with Disruptive Mutations to CHD8 and CHD8 Target Genes
R. K. Earl C. M. Hudac J. Gerdts E. E. Eichler R. Bernier

11:30 AM

144.040

40 Genome-Wide ASD Phenotype-Genotype Association Study in Two Large Data Sets
A. Yousaf R. Waltes D. Haslinger S. Lindlar S. M. Klauck E. Duketis M. Sachse A. Voran M. Biscaldi M. Schulte-Rüther S. Kupferschmid S. Cichon M. Noethen J. Ackermann I. Koch C. M. Freitag A. Chiocchetti

11:30 AM

144.041

41 Genotype-Phenotype Correlations of Phelan-Mcdermid Syndrome Based on Neurodevelopmental Gene Expression Patterns of the 22q13 Region
L. P. Grosvenor M. N. Ziats O. M. Rennert

11:30 AM

144.042

42 Glutamatergic Signalling and Autism: A Family Based Association Study on the Glutamatergic Neurotransmitter System
A. Yousaf H. S. Bour D. Haslinger E. Duketis T. Jarczok M. Sachse A. Voran M. Biscaldi S. Kupferschmid M. Schulte-Rüther F. Degenhardt S. Herms S. Cichon I. Koch R. J. Anney A. Chiocchetti C. M. Freitag

11:30 AM

144.043

43 Identification of Convergent Molecular Pathways during the Development of Neurons Derived from Patients with Idiopathic Autism Using Rnaseq Analysis
D. Dykxhoorn B. A. DeRosa M. A. Pericak-Vance K. Belle J. M. Vance C. Garcia-Serje D. Van Booven M. L. Cuccaro H. N. Cukier

11:30 AM

144.044

44 Increased Frequency of TSC2 Missense Mutations in Non-Syndromic Autism
L. Kalsner B. Manwani J. Twachtman-Bassett E. Cornell L. Derynioski A. Milanese T. Dumont-Mathieu C. Stanley S. Chamberlain

11:30 AM

144.045

45 Integrating Expression Quantitative Brain Loci in ASD GWAS Analyses
C. Shu C. Ladd-Acosta A. Jaffe J. L. Daniels C. J. Newschaffer A. M. Reynolds D. E. Schendel L. A. Schieve M. D. Fallin

11:30 AM

144.046

46 Maternally Acting Gene Alleles Contribute to Autism
W. G. Johnson E. S. Stenroos S. Buyske

11:30 AM

144.047

47 Meiotic DNA Repair and Epigenetic Remodeling of the X and Y Chromosomes Could Contribute to the 'gender Bias' in Sex-Linked Autism Spectrum Disorders
J. L. Hopkins M. Jamabo P. W. Jordan

11:30 AM

144.048

48 Mssng - Combining Open Science and 10,000 Whole Genome Sequences to Speed the Delivery of New Understandings in Autism
M. T. Pletcher

11:30 AM

144.049

49 Multivariate Analysis of Insomnia-Related Behaviors Profiled in the Simon's Simplex Collection
O. J. Veatch J. S. Sutcliffe Z. Warren M. H. Potter B. A. Malow

11:30 AM

144.050

50 NLGN2 Haploinsufficiency Causes a Distinctive Neurobehavioral Phenotype Characterized By Anxiety, Autism, Intellectual Disability, and Obesity
M. Shinawi D. Baldridge G. Douglas C. Garriga M. T. Cho

11:30 AM

144.051

51 Placenta Methylation and Autism Risk in the Early Autism Risk Longitudinal Investigation (EARLI)
S. V. Andrews K. M. Bakulski J. Feinberg R. Tryggvadottir K. D. Hansen S. C. Brown L. A. Croen I. Hertz-Picciotto C. Ladd-Acosta C. J. Newschaffer A. P. Feinberg M. D. Fallin

11:30 AM

144.052

52 Prevalence of Prenatal and Perinatal Birth Complications in Individuals with and without ASD-Associated Copy Number Variants
J. Han A. Wolken S. Barber R. Bernier

11:30 AM

144.053

53 Quantification of FMRP in Human and Mouse Tissues By Capture Immunoassays
W. T. Brown T. Adayev R. Kascsak R. Kascsak C. Dobkin S. Nolin G. LaFauci

11:30 AM

144.054

54 Risk Pathways to Autistic Traits and Autism Spectrum Disorder in Tuberous Sclerosis Complex (TSC)
F. S. McEwen C. R. Tye H. Liang E. D. Barker E. L. Woodhouse L. Underwood F. Sheerin N. Higgins M. Clifford .. Tuberous Sclerosis 2000 Study Group J. R. Yates P. F. Bolton

11:30 AM

144.055

55 Sexual Dimorphism of Regulatory Small Non-Coding RNAs in the Superior Temporal Gyrus Brain Region of Autism Spectrum Disorders: A Pilot Study
B. Stamova B. P. Ander F. R. Sharp C. M. Schumann

11:30 AM

144.056

56 Social Visual Engagement—a Putative Autism Endophenotype—Exhibits Marked Variation and Striking MZ Twin Concordance in Typical Infants
J. N. Constantino A. Klin A. Glowinski S. Kennon-McGill C. Weichselbaum W. Jones

11:30 AM

144.057

57 Temporal Gene Expression Profiles and Behavioral Regression in Children with ASD with Postsynaptic Density Gene Disruptions
S. Trinh R. P. Goin-Kochel R. Bernier

11:30 AM

144.058

58 The Autism-Associated Long Noncoding RNA MSNP1AS Regulates a Network of Genes Involved in Neuronal Process Stability
J. DeWitt N. A. Grepo B. Wilkinson K. Morris J. A. Knowles D. B. Campbell

11:30 AM

144.059

59 The Kaiser Permanente Autism Family Biobank: A Resource for Research on Autism Spectrum Disorders
M. L. Massolo C. K. Yoshida Y. Qian A. N. Anderson L. A. Croen

11:30 AM

144.060

60 The Quantitative Autism Score (QAS): A Tool to Unravel Genetic Associations
S. Luzi M. L. Cuccaro E. R. Martin M. A. Pericak-Vance A. J. Griswold J. R. Gilbert J. P. Hussman

11:30 AM

144.061

61 The Role of Dopaminergic Variants in Initiating Joint Attention in High- and Low-Risk Siblings
D. N. Gangi D. S. Messinger E. R. Martin M. L. Cuccaro

11:30 AM

144.062

62 Tissue-Specific Expression Quantitative Trait Loci (eQTL) in GI Symptomatic ASD Children
S. J. Walker A. Krigsman C. D. Langefeld

11:30 AM

144.063

63 Using Whole Exome Sequencing to Investigate the Genetics of Sensory Processing Disorders
E. J. Marco G. Da Gente S. Thomas A. Brandes-aitken E. Sherr

11:30 AM

144.064

64 Whole Exome Sequencing in Extended Families Identifies Shared and Unique Likely Gene-Disrupting Alterations
H. N. Cukier S. Luzi L. Gomez J. M. Lee P. L. Whitehead I. Konidari W. Hulme J. Haines M. L. Cuccaro J. R. Gilbert M. A. Pericak-Vance

11:30 AM

144.065

65 Whole Genome Sequencing and Identical By Descent Filtering of Autism Spectrum Disorder Extended Families Reveals Novel ASD Risk Variants
A. J. Griswold H. N. Cukier D. Van Booven P. L. Whitehead N. K. Hofmann J. M. Lee E. R. Martin M. L. Cuccaro J. R. Gilbert J. P. Hussman M. A. Pericak-Vance