Autism: June 2-9, 2016 || Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)








Last Updated: Jun 02, 2016

• The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.
  van der Steen S L et al. Journal of genetic counseling 2016 May
• Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.
  Kataoka M, et al. Molecular psychiatry 2016 5
• Genome-wide gene-based analysis suggests an association between Neuroligin 1 (NLGN1) and post-traumatic stress disorder.
  Kilaru V, et al. Translational psychiatry 2016 0 e820
• Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications.
  Chang Yi Shin, et al. Human brain mapping 2016 5
• Early event-related potentials to emotional faces differ for adults with autism spectrum disorder and by serotonin transporter genotype.
  Faja Susan, et al. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2016 6 (6) 2436-47
• CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
  Mercati O, et al. Molecular psychiatry 2016 5
• Genome-wide association study of serum coenzyme Q10 levels identifies susceptibility loci linked to neuronal diseases.
  Degenhardt Frauke, et al. Human molecular genetics 2016 5
• Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.
  Isles Anthony R, et al. PLoS genetics 2016 5 (5) e1005993
• Chromosomal Microarray Analysis in Clinical Evaluation of Neurodevelopmental Disorders-Reporting a Novel Deletion of SETDB1 and Illustration of Counseling Challenge.
  Xu Qiong, et al. Pediatric research 2016 4
• Exome Sequencing of Familial Bipolar Disorder.
  Goes Fernando S, et al. JAMA psychiatry 2016 4
• Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
  Fry Andrew E, et al. BMC medical genetics 2016 0 (1) 34
• De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ.
  Matsumura Kensuke, et al. Journal of molecular psychiatry 2016 0 1
• Maternal mid-pregnancy C-reactive protein and risk of autism spectrum disorders: the early markers for autism study.
  Zerbo O, et al. Translational psychiatry 2016 0 e783
• Maternal serotonin transporter genotype affects risk for ASD with exposure to prenatal stress.
  Hecht Patrick M, et al. Autism research : official journal of the International Society for Autism Research 2016 4
• New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
  Cappuccio Gerarda et al. Italian journal of pediatrics 2016 42(1) 39
• Genetic Variants of Angiotensin-Converting Enzyme Are Linked to Autism: A Case-Control Study.
  Firouzabadi Negar, et al. PloS one 2016 0 (4) e0153667
• Association analysis of genetic variant of rs13331 in PSD95 gene with autism spectrum disorders: A case-control study in a Chinese population.
  Wang Jia, et al. Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban 2016 4 (2) 285-8
• DNA repair gene XPD Asp312Asn and XRCC4 G-1394T polymorphisms and the risk of autism spectrum disorder.
  Dasdemir S, et al. Cellular and molecular biology (Noisy-le-Grand, France) 2016 0 (3) 46-50
• Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders.
  Ishizuka Kanako, et al. PloS one 2016 0 (4) e0153224
• Advancing the understanding of autism disease mechanisms through genetics
  Luis de la Torre-Ubieta et al, Nature Medicine, April 12, 2016
• Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
  Yin Chia-Lin, et al. Molecular autism 2016 0 23
• CDC Autism Information: Why Act Early? 
• CDC information on autism spectrum disorders 
• Insulin-Independent GABAA Receptor-Mediated Response in the Barrel Cortex of Mice with Impaired Met Activity.
  Lo Fu-Sun, et al. The Journal of neuroscience : the official journal of the Society for Neuroscience 2016 3 (13) 3691-7
• Genome-wide association study of lifetime cannabis use based on a large meta-analytic sample of 32?330 subjects from the International Cannabis Consortium.
  Stringer S, et al. Translational psychiatry 2016 0 e769
• A Microcosting and Cost-Consequence Analysis of Genomic Testing Strategies in Autism Spectrum Disorder[PDF 1.42 MB]
  Tsiplova K, et al. The Hospital for Sick Children Technology Assessment at SickKids (Task)
• Frequency and Complexity of De Novo Structural Mutation in Autism.
  Brandler William M et al. American journal of human genetics 2016 Mar
• Genetic changes that cause autism are more diverse than previously thought,
  EurekAlert, March 24, 2016
• The Idea Is Good, but…: Failure to Replicate Associations of Oxytocinergic Polymorphisms with Face-Inversion in the N170.
  Munk Aisha J L, et al. PloS one 2016 0 (3) e0151991
• Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.
  Robinson Elise B, et al. Nature genetics 2016 3

• CDC Information (6)
• CDC-Authored Pub (1)

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• Human (30)
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• Guidelines (1)
• Tier Table (2)
• Synthesis (5)

• Implementation (3)

Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB