Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients
出版年份 2019 全文链接
标题
Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients
作者
关键词
-
出版物
PeerJ
Volume 7, Issue -, Pages e7979
出版商
PeerJ
发表日期
2019-11-15
DOI
10.7717/peerj.7979
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。- A prospective study of fetal head growth, autistic traits and autism spectrum disorder
- (2018) Laura M. E. Blanken et al. Autism Research
- High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders
- (2018) Marina Viñas-Jornet et al. BEHAVIOR GENETICS
- Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability
- (2018) Valentina Peycheva et al. GENE
- Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders
- (2018) Mingyu Xu et al. Neuroscience Bulletin
- Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature
- (2018) Haiyu Li et al. Molecular Cytogenetics
- Genetic profile and clinical application of chromosomal microarray in children with intellectual disability in Hong Kong
- (2018) Purdy YT Chan et al. HONG KONG MEDICAL JOURNAL
- A review of psychiatric conceptions of mental and behavioural disorders in Prader-Willi syndrome
- (2018) Joyce Whittington et al. NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
- Copy number variation analysis of patients with intellectual disability from North-West Spain
- (2017) Inés Quintela et al. GENE
- Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
- (2017) Holly A F Stessman et al. NATURE GENETICS
- Genomic Disorders in Psychiatry—What Does the Clinician Need to Know?
- (2017) Chelsea Lowther et al. Current Psychiatry Reports
- The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability
- (2017) Ricardo Harripaul et al. Cold Spring Harbor Perspectives in Medicine
- Current knowledge on the genetics of autism and propositions for future research
- (2016) Thomas Bourgeron COMPTES RENDUS BIOLOGIES
- Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders
- (2016) Kate Wolfe et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Advancing the understanding of autism disease mechanisms through genetics
- (2016) Luis de la Torre-Ubieta et al. NATURE MEDICINE
- Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder
- (2016) Arjun Krishnan et al. NATURE NEUROSCIENCE
- Pleiotropic Mechanisms Indicated for Sex Differences in Autism
- (2016) Ileena Mitra et al. PLoS Genetics
- Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders
- (2016) Karen S. Ho et al. Biomed Research International
- A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders
- (2016) Andrea J. Gonzalez-Mantilla et al. JAMA Psychiatry
- Autism spectrum disorder and epilepsy: Disorders with a shared biology
- (2015) Bo Hoon Lee et al. EPILEPSY & BEHAVIOR
- Sex/Gender Differences and Autism: Setting the Scene for Future Research
- (2015) Meng-Chuan Lai et al. JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
- A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
- (2014) Sébastien Jacquemont et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Copy number variation plays an important role in clinical epilepsy
- (2014) Heather Olson et al. ANNALS OF NEUROLOGY
- The phenotypic manifestations of rare genic CNVs in autism spectrum disorder
- (2014) A K Merikangas et al. MOLECULAR PSYCHIATRY
- Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families
- (2014) Gerald Egger et al. NEUROGENETICS
- Inverse and Direct Cancer Comorbidity in People with Central Nervous System Disorders: A Meta-Analysis of Cancer Incidence in 577,013 Participants of 50 Observational Studies
- (2014) Ferrán Catalá-López et al. PSYCHOTHERAPY AND PSYCHOSOMATICS
- Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism
- (2013) Steven Klein et al. Autism Research
- Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia
- (2013) Jennifer Gladys Mulle et al. BIOLOGICAL PSYCHIATRY
- Pathogenic or not? Assessing the clinical relevance of copy number variants
- (2013) JY Hehir-Kwa et al. CLINICAL GENETICS
- Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features
- (2013) Agatino Battaglia et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions
- (2013) G. Bradley Schaefer et al. GENETICS IN MEDICINE
- Clinical Characteristics of Children with Autism Spectrum Disorder and Co-Occurring Epilepsy
- (2013) Emma W. Viscidi et al. PLoS One
- Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?
- (2013) Claire Amiet et al. Molecular Autism
- Epilepsy and autism: Is there a special relationship?
- (2012) Anne T. Berg et al. EPILEPSY & BEHAVIOR
- American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
- (2011) Hutton M Kearney et al. GENETICS IN MEDICINE
- Autism, Alzheimer disease, and fragile X: APP, FMRP, and mGluR5 are molecular links
- (2011) D. K. Sokol et al. NEUROLOGY
- 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
- Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies
- (2010) C M Hultman et al. MOLECULAR PSYCHIATRY
- High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
- (2009) Laura Bernardini et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Phenomic determinants of genomic variation in autism spectrum disorders
- (2009) Y Qiao et al. JOURNAL OF MEDICAL GENETICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now