Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research
出版年份 2011 全文链接
标题
Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research
作者
关键词
-
出版物
CYTOGENETIC AND GENOME RESEARCH
Volume 135, Issue 3-4, Pages 174-202
出版商
S. Karger AG
发表日期
2011-11-01
DOI
10.1159/000332928
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。- Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation
- (2011) Liesbeth Rooms et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications
- (2011) Douglas F. Levinson et al. AMERICAN JOURNAL OF PSYCHIATRY
- Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
- (2011) Tracy Tucker et al. BMC Medical Genomics
- Epilepsy and the new cytogenetics
- (2011) John C. Mulley et al. EPILEPSIA
- Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample
- (2011) Andrew McQuillin et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Homozygosity mapping in outbred families with mental retardation
- (2011) Janneke H M Schuurs-Hoeijmakers et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Autism spectrum disorders—A genetics review
- (2011) Judith H Miles GENETICS IN MEDICINE
- 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
- Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†
- (2011) Wigard P. Kloosterman et al. HUMAN MOLECULAR GENETICS
- Phenotype mining in CNV carriers from a population cohort †
- (2011) Olli P. H. Pietiläinen et al. HUMAN MOLECULAR GENETICS
- 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders
- (2011) Arivudainambi Ramalingam et al. JOURNAL OF HUMAN GENETICS
- Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
- (2011) Vladimir Vacic et al. NATURE
- Transcriptomic analysis of autistic brain reveals convergent molecular pathology
- (2011) Irina Voineagu et al. NATURE
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- A copy number variation morbidity map of developmental delay
- (2011) Gregory M Cooper et al. NATURE GENETICS
- Genome structural variation discovery and genotyping
- (2011) Can Alkan et al. NATURE REVIEWS GENETICS
- Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
- (2011) Dan Levy et al. NEURON
- Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses
- (2011) Sarah R. Gilman et al. NEURON
- 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
- Identifying Human Disease Genes through Cross-Species Gene Mapping of Evolutionary Conserved Processes
- (2011) Martin Poot et al. PLoS One
- Paternal age and psychiatric disorders: Findings from a Dutch population registry
- (2011) Jacobine E. Buizer-Voskamp et al. SCHIZOPHRENIA RESEARCH
- Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability
- (2010) Dean A. Regier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
- (2010) Annabel C. Whibley et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome
- (2010) Benjamín Rodríguez-Santiago et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
- (2010) Erin L. Heinzen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Microdeletions of 3q29 Confer High Risk for Schizophrenia
- (2010) Jennifer Gladys Mulle et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
- (2010) Daniel Moreno-De-Luca et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Copy number variation characteristics in subpopulations of patients with autism spectrum disorders
- (2010) Anna Bremer et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Copy Number Variations in Schizophrenia: Critical Review and New Perspectives on Concepts of Genetics and Disease
- (2010) Anne S. Bassett et al. AMERICAN JOURNAL OF PSYCHIATRY
- Genetics of Early Onset Cognitive Impairment
- (2010) Hans Hilger Ropers Annual Review of Genomics and Human Genetics
- Rare Copy Number VariantsA Point of Rarity in Genetic Risk for Bipolar Disorder and SchizophreniaRare Copy Number Variants
- (2010) Detelina Grozeva ARCHIVES OF GENERAL PSYCHIATRY
- Connecting Genes to Brain in the Autism Spectrum Disorders
- (2010) Brett S. Abrahams et al. ARCHIVES OF NEUROLOGY
- Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia
- (2010) Li-San Wang et al. BMC Medical Genetics
- Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
- (2010) Catalina Betancur BRAIN RESEARCH
- High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting
- (2010) J Wincent et al. CLINICAL GENETICS
- Somatic Genome Variations in Health and Disease
- (2010) I. Iourov et al. CURRENT GENOMICS
- Synapse Pathology in Psychiatric and Neurologic Disease
- (2010) Myrrhe van Spronsen et al. Current Neurology and Neuroscience Reports
- Phenotypic manifestations of copy number variation in chromosome 16p13.11
- (2010) Sandesh C Sreenath Nagamani et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia
- (2010) Katrin Männik et al. European Journal of Medical Genetics
- A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies
- (2010) Martin Poot et al. GENETICS IN MEDICINE
- De novo rates and selection of large copy number variation
- (2010) A. Itsara et al. GENOME RESEARCH
- The effect of translocation-induced nuclear reorganization on gene expression
- (2010) L. Harewood et al. GENOME RESEARCH
- Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics
- (2010) Y. Qiao et al. HUMAN GENETICS
- Penetrance for copy number variants associated with schizophrenia
- (2010) E. Vassos et al. HUMAN MOLECULAR GENETICS
- Phenotypic variability and genetic susceptibility to genomic disorders
- (2010) S. Girirajan et al. HUMAN MOLECULAR GENETICS
- Array Comparative Genomic Hybridization Findings in a Cohort Referred for an Autism Evaluation
- (2010) G. Bradley Schaefer et al. JOURNAL OF CHILD NEUROLOGY
- Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
- (2010) Shin Hayashi et al. JOURNAL OF HUMAN GENETICS
- Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation
- (2010) Bixia Xiang et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis
- (2010) Nigel M Williams et al. LANCET
- A double hit implicates DIAPH3 as an autism risk gene
- (2010) J A S Vorstman et al. MOLECULAR PSYCHIATRY
- Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility
- (2010) C O'Dushlaine et al. MOLECULAR PSYCHIATRY
- Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree
- (2010) K-P Lesch et al. MOLECULAR PSYCHIATRY
- L1 retrotransposition in neurons is modulated by MeCP2
- (2010) Alysson R. Muotri et al. NATURE
- Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- (2010) NATURE
- Functional impact of global rare copy number variation in autism spectrum disorders
- (2010) Dalila Pinto et al. NATURE
- Public data archives for genomic structural variation
- (2010) Deanna M Church et al. NATURE GENETICS
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- Tourette syndrome is associated with recurrent exonic copy number variants
- (2010) S. K. Sundaram et al. NEUROLOGY
- Tourette's Syndrome
- (2010) Roger Kurlan NEW ENGLAND JOURNAL OF MEDICINE
- Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues
- (2010) Hasmik Mkrtchyan et al. PLoS One
- Dissecting the Clinical Heterogeneity of Autism Spectrum Disorders through Defined Genotypes
- (2010) Hilgo Bruining et al. PLoS One
- Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams Syndrome
- (2010) Ariel M. Pani et al. PLoS One
- Dual DNA Methylation Patterns in the CNS Reveal Developmentally Poised Chromatin and Monoallelic Expression of Critical Genes
- (2010) Jinhui Wang et al. PLoS One
- Duplication of the SLIT3 Locus on 5q35.1 Predisposes to Major Depressive Disorder
- (2010) Joseph T. Glessner et al. PLoS One
- New Copy Number Variations in Schizophrenia
- (2010) Chiara Magri et al. PLoS One
- Strong synaptic transmission impact by copy number variations in schizophrenia
- (2010) J. T. Glessner et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Key role for gene dosage and synaptic homeostasis in autism spectrum disorders
- (2010) Roberto Toro et al. TRENDS IN GENETICS
- LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes?
- (2010) Tatjana Singer et al. TRENDS IN NEUROSCIENCES
- Overview of the Genetics of Major Depressive Disorder
- (2010) Falk W. Lohoff Current Psychiatry Reports
- The use of array-CGH in a cohort of Greek children with developmental delay
- (2010) Emmanouil Manolakos et al. Molecular Cytogenetics
- Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance
- (2010) Joo Wook Ahn et al. Molecular Cytogenetics
- Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation
- (2010) Jayne Y. Hehir-Kwa et al. PLoS Computational Biology
- Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
- (2010) Heather C. Mefford et al. PLoS Genetics
- Characterising and Predicting Haploinsufficiency in the Human Genome
- (2010) Ni Huang et al. PLoS Genetics
- Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
- (2009) Andy Itsara et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Parental perceived value of a diagnosis for intellectual disability (ID): A qualitative comparison of families with and without a diagnosis for their child's ID
- (2009) Nancy L. Makela et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Copy Number Variation in Human Health, Disease, and Evolution
- (2009) Feng Zhang et al. Annual Review of Genomics and Human Genetics
- Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation
- (2009) Audrey Guilmatre et al. ARCHIVES OF GENERAL PSYCHIATRY
- Copy Number Variation in Schizophrenia in the Japanese Population
- (2009) Masashi Ikeda et al. BIOLOGICAL PSYCHIATRY
- CNV-seq, a new method to detect copy number variation using high-throughput sequencing
- (2009) Chao Xie et al. BMC BIOINFORMATICS
- Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
- (2009) JM Friedman et al. BMC GENOMICS
- Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
- (2009) C. G. F. de Kovel et al. BRAIN
- Cytogenetic microarrays in Manitoba patients with developmental delay
- (2009) CLINICAL GENETICS
- Genetic and cellular mechanisms of oncogenesis
- (2009) Julian Downward et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Genetics of autistic disorders: review and clinical implications
- (2009) Christine M. Freitag et al. EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
- High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
- (2009) Laura Bernardini et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first
- (2009) Antoinet CJ Gijsbers et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience
- (2009) Karen Buysse et al. European Journal of Medical Genetics
- Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
- (2009) E.K. Bijlsma et al. European Journal of Medical Genetics
- Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
- (2009) Ron Hochstenbach et al. European Journal of Medical Genetics
- Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series
- (2009) Sylvie Jaillard et al. European Journal of Medical Genetics
- The role of copy number variation in schizophrenia
- (2009) George Kirov Expert Review of Neurotherapeutics
- How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay
- (2009) Jennifer Saam et al. GENETICS IN MEDICINE
- Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects
- (2009) Gurdeep S Sagoo et al. GENETICS IN MEDICINE
- A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
- (2009) H. C. Mefford et al. GENOME RESEARCH
- High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
- (2009) T. H. Shaikh et al. GENOME RESEARCH
- Environmental influence on L1 retrotransposons in the adult hippocampus
- (2009) Alysson R. Muotri et al. HIPPOCAMPUS
- Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder
- (2009) I. Cusco et al. HUMAN MOLECULAR GENETICS
- Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
- (2009) L. M. Dibbens et al. HUMAN MOLECULAR GENETICS
- Copy number variants, diseases and gene expression
- (2009) C. N. Henrichsen et al. HUMAN MOLECULAR GENETICS
- Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
- (2009) George Kirov et al. HUMAN MOLECULAR GENETICS
- Transgenerational genetic effects on phenotypic variation and disease risk
- (2009) J. H. Nadeau HUMAN MOLECULAR GENETICS
- Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study
- (2009) Dominic J. McMullan et al. HUMAN MUTATION
- Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families
- (2009) Takeshi Nishiyama et al. JOURNAL OF HUMAN GENETICS
- Phenomic determinants of genomic variation in autism spectrum disorders
- (2009) Y Qiao et al. JOURNAL OF MEDICAL GENETICS
- Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
- (2009) B W M van Bon et al. JOURNAL OF MEDICAL GENETICS
- The genetics of Tourette syndrome: A review
- (2009) Julia A. O'Rourke et al. JOURNAL OF PSYCHOSOMATIC RESEARCH
- Network analysis of positional candidate genes of schizophrenia highlights myelin-related pathways
- (2009) T Rietkerk et al. MOLECULAR PSYCHIATRY
- Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
- (2009) J Elia et al. MOLECULAR PSYCHIATRY
- Copy number variations of chromosome 16p13.1 region associated with schizophrenia
- (2009) A Ingason et al. MOLECULAR PSYCHIATRY
- Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia
- (2009) B Rodríguez-Santiago et al. MOLECULAR PSYCHIATRY
- Finding the missing heritability of complex diseases
- (2009) Teri A. Manolio et al. NATURE
- L1 retrotransposition in human neural progenitor cells
- (2009) Nicole G. Coufal et al. NATURE
- Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
- (2009) Joseph T. Glessner et al. NATURE
- Origins and functional impact of copy number variation in the human genome
- (2009) Donald F. Conrad et al. NATURE
- A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
- (2009) Marwan Shinawi et al. NATURE GENETICS
- Personalized copy number and segmental duplication maps using next-generation sequencing
- (2009) Can Alkan et al. NATURE GENETICS
- Segmental copy number variation shapes tissue transcriptomes
- (2009) Charlotte N Henrichsen et al. NATURE GENETICS
- 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
- (2009) Ingo Helbig et al. NATURE GENETICS
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
- (2009) Patrick S Tarpey et al. NATURE GENETICS
- Computational methods for discovering structural variation with next-generation sequencing
- (2009) Paul Medvedev et al. NATURE METHODS
- Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism
- (2009) Bert van der Zwaag et al. PLoS One
- Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans
- (2009) B. Xu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genetics of bipolar disorder: successful start to a long journey
- (2009) Nick Craddock et al. TRENDS IN GENETICS
- Genetic overlap between autism, schizophrenia and bipolar disorder
- (2009) Liam S Carroll et al. Genome Medicine
- Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes
- (2009) Maja Bucan et al. PLoS Genetics
- Uptake of the Necrotic Serpin in Drosophila melanogaster via the Lipophorin Receptor-1
- (2009) Sandra Fausia Soukup et al. PLoS Genetics
- A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia
- (2009) Anna C. Need et al. PLoS Genetics
- Structural Variation of Chromosomes in Autism Spectrum Disorder
- (2008) Christian R. Marshall et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients
- (2008) Terry Vrijenhoek et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay
- (2008) Bixia Xiang et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Application of metaphase HR-CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features
- (2008) B. Nowakowska et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Array comparative genomic hybridization in global developmental delay
- (2008) M.I. Shevell et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome
- (2008) Jacob A.S. Vorstman et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder
- (2008) Susan L. Christian et al. BIOLOGICAL PSYCHIATRY
- The current excitement about copy-number variation: how it relates to gene duplications and protein families
- (2008) Jan O Korbel et al. CURRENT OPINION IN STRUCTURAL BIOLOGY
- Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome
- (2008) Doron Gothelf et al. Developmental Disabilities Research Reviews
- Velo-cardio-facial syndrome: 30 Years of study
- (2008) Robert J. Shprintzen Developmental Disabilities Research Reviews
- Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome
- (2008) Sarah E. Prasad et al. Developmental Disabilities Research Reviews
- Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development
- (2008) Helle Lybæk et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms
- (2008) Zhong-Fa Zhang et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations
- (2008) Diane L Pickering et al. GENETICS IN MEDICINE
- Mapping translocation breakpoints by next-generation sequencing
- (2008) W. Chen et al. GENOME RESEARCH
- Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
- (2008) Anne S. Bassett et al. HUMAN MOLECULAR GENETICS
- Somatic mosaicism for copy number variation in differentiated human tissues
- (2008) Arkadiusz Piotrowski et al. HUMAN MUTATION
- Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
- (2008) F D Hannes et al. JOURNAL OF MEDICAL GENETICS
- Navigating the channels and beyond: unravelling the genetics of the epilepsies
- (2008) Ingo Helbig et al. LANCET NEUROLOGY
- Singleton deletions throughout the genome increase risk of bipolar disorder
- (2008) D Zhang et al. MOLECULAR PSYCHIATRY
- A study of rare structural variants in schizophrenia patients and normal controls from Chinese Han population
- (2008) Y Y Shi et al. MOLECULAR PSYCHIATRY
- Copy-number variations associated with neuropsychiatric conditions
- (2008) Edwin H. Cook Jr et al. NATURE
- Rare chromosomal deletions and duplications increase risk of schizophrenia
- (2008) Jennifer L. Stone et al. NATURE
- Large recurrent microdeletions associated with schizophrenia
- (2008) Hreinn Stefansson et al. NATURE
- A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
- (2008) Andrew J Sharp et al. NATURE GENETICS
- Strong association of de novo copy number mutations with sporadic schizophrenia
- (2008) Bin Xu et al. NATURE GENETICS
- Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
- (2008) Peter J Campbell et al. NATURE GENETICS
- Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
- (2008) Kimberly L Stark et al. NATURE GENETICS
- 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
- Advances in autism genetics: on the threshold of a new neurobiology
- (2008) Brett S. Abrahams et al. NATURE REVIEWS GENETICS
- Association between Microdeletion and Microduplication at 16p11.2 and Autism
- (2008) Lauren A. Weiss et al. NEW ENGLAND JOURNAL OF MEDICINE
- Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
- (2008) Heather C. Mefford et al. NEW ENGLAND JOURNAL OF MEDICINE
- Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
- (2008) T. Walsh et al. SCIENCE
- Cellular reactions to gene dosage imbalance: genomic, transcriptomic and proteomic effects
- (2008) Reiner A. Veitia et al. TRENDS IN GENETICS
- Chromosomal mosaicism goes global
- (2008) Ivan Y Iourov et al. Molecular Cytogenetics
- Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia
- (2007) Mechteld L.C. Hoogendoorn et al. SCHIZOPHRENIA RESEARCH
- The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1
- (2007) Yuri B. Yurov et al. SCHIZOPHRENIA RESEARCH
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search