标题
Autism spectrum disorder in the genetics clinic: a review
作者
关键词
-
出版物
CLINICAL GENETICS
Volume 83, Issue 5, Pages 399-407
出版商
Wiley
发表日期
2013-02-21
DOI
10.1111/cge.12101
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- SHANK1 Deletions in Males with Autism Spectrum Disorder
- (2012) Daisuke Sato et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genetic architecture in autism spectrum disorder
- (2012) Bernie Devlin et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways
- (2012) Anthony J. Griswold et al. HUMAN MOLECULAR GENETICS
- Underutilization of Genetics Services for Autism: The Importance of Parental Awareness and Provider Recommendation
- (2012) Kimberly Vande Wydeven et al. Journal of Genetic Counseling
- Predicting the diagnosis of autism spectrum disorder using gene pathway analysis
- (2012) E Skafidas et al. MOLECULAR PSYCHIATRY
- Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts
- (2012) D Moreno-De-Luca et al. MOLECULAR PSYCHIATRY
- Patterns and rates of exonic de novo mutations in autism spectrum disorders
- (2012) Benjamin M. Neale et al. NATURE
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- De Novo Gene Disruptions in Children on the Autistic Spectrum
- (2012) Ivan Iossifov et al. NEURON
- The Emerging Biology of Autism Spectrum Disorders
- (2012) M. W. State et al. SCIENCE
- Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder
- (2011) Andrea K. Vaags et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome
- (2011) Nicole Philip et al. BEHAVIOR GENETICS
- Autism spectrum disorders—A genetics review
- (2011) Judith H Miles GENETICS IN MEDICINE
- Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
- (2011) Trilochan Sahoo et al. GENETICS IN MEDICINE
- Phosphatase and Tensin Homolog (PTEN) Gene Mutations and Autism: Literature Review and a Case Report of a Patient With Cowden Syndrome, Autistic Disorder, and Epilepsy
- (2011) Sara Conti et al. JOURNAL OF CHILD NEUROLOGY
- Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)
- (2011) S. M. Sarasua et al. JOURNAL OF MEDICAL GENETICS
- Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
- (2011) Sébastien Jacquemont et al. NATURE
- Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
- (2011) Stephan J. Sanders et al. NEURON
- Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?
- (2011) Manuel Schiff et al. PLoS One
- Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development
- (2011) Chikako Waga et al. PSYCHIATRIC GENETICS
- Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients
- (2011) Thomas W. Mühleisen et al. SCHIZOPHRENIA RESEARCH
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH
- (2010) S.U. Dhar et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Rett syndrome: Revised diagnostic criteria and nomenclature
- (2010) Jeffrey L. Neul et al. ANNALS OF NEUROLOGY
- Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
- (2010) MT Carter et al. CLINICAL GENETICS
- Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
- (2010) Melanie Manning et al. GENETICS IN MEDICINE
- Copy number variants at Williams–Beuren syndrome 7q11.23 region
- (2010) Giuseppe Merla et al. HUMAN GENETICS
- Functional impact of global rare copy number variation in autism spectrum disorders
- (2010) Dalila Pinto et al. NATURE
- Clinical Genetic Testing for Patients With Autism Spectrum Disorders
- (2010) Y. Shen et al. PEDIATRICS
- Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability
- (2010) A. Noor et al. Science Translational Medicine
- Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome
- (2009) Melissa B. Ramocki et al. ANNALS OF NEUROLOGY
- Copy Number Variation in Schizophrenia in the Japanese Population
- (2009) Masashi Ikeda et al. BIOLOGICAL PSYCHIATRY
- Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
- (2009) Nathalie Van der Aa et al. European Journal of Medical Genetics
- The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
- (2009) Elizabeth A Varga et al. GENETICS IN MEDICINE
- Parents’ Perceptions of Autism Spectrum Disorder Etiology and Recurrence Risk and Effects of their Perceptions on Family Planning: Recommendations for Genetic Counselors
- (2009) Christina G. Selkirk et al. Journal of Genetic Counseling
- Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
- (2009) M. Shinawi et al. JOURNAL OF MEDICAL GENETICS
- Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications
- (2009) Jill A. Rosenfeld et al. Journal of Neurodevelopmental Disorders
- Microduplications of 16p11.2 are associated with schizophrenia
- (2009) Shane E McCarthy et al. NATURE GENETICS
- Structural Variation of Chromosomes in Autism Spectrum Disorder
- (2008) Christian R. Marshall et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Disruption of Neurexin 1 Associated with Autism Spectrum Disorder
- (2008) Hyung-Goo Kim et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families
- (2008) Winnie Courtens et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Novel de novo SHANK3 mutation in autistic patients
- (2008) Julie Gauthier et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Genetics evaluation for the etiologic diagnosis of autism spectrum disorders
- (2008) G Bradley Schaefer et al. GENETICS IN MEDICINE
- Disruption of the neurexin 1 gene is associated with schizophrenia
- (2008) Dan Rujescu et al. HUMAN MOLECULAR GENETICS
- Neuroligins and neurexins link synaptic function to cognitive disease
- (2008) Thomas C. Südhof NATURE
- Large recurrent microdeletions associated with schizophrenia
- (2008) Hreinn Stefansson et al. NATURE
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
- (2008) Nicola Brunetti-Pierri et al. NATURE GENETICS
- Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
- (2008) Heather C. Mefford et al. NEW ENGLAND JOURNAL OF MEDICINE
- The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
- (2008) Agatino Battaglia Orphanet Journal of Rare Diseases
- Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
- (2008) T. Walsh et al. SCIENCE
- Genetic Evaluation of Autism
- (2008) Nancy J. Mendelsohn et al. Seminars in Pediatric Neurology
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started