Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease

Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets

(2015) William Warnica et al.   BIOLOGICAL PSYCHIATRY

Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature

(2014) Zehra Ordulu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

(2014) Ian Blumenthal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impaired Development Of Neural-Crest Cell Derived Organs and Intellectual Disability Caused ByMED13LHaploinsufficiency

(2014) Kagistia Hana Utami et al.   HUMAN MUTATION

Identification of Novel Craniofacial Regulatory Domains Located far Upstream ofSOX9and Disrupted in Pierre Robin Sequence

(2014) Christopher T. Gordon et al.   HUMAN MUTATION

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence forDYNC1I1exonic enhancers ofDLX5/6expression in humans

(2014) Hana Lango Allen et al.   JOURNAL OF MEDICAL GENETICS

Neurodevelopmental disorders associated with dosage imbalance ofZBTB20correlate with the morbidity spectrum of ZBTB20 candidate target genes

(2014) Malene B Rasmussen et al.   JOURNAL OF MEDICAL GENETICS

Domains of genome-wide gene expression dysregulation in Down’s syndrome

(2014) Audrey Letourneau et al.   NATURE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

A guide to genome engineering with programmable nucleases

(2014) Hyongbum Kim et al.   NATURE REVIEWS GENETICS

Efficient, Complete Deletion of Synaptic Proteins using CRISPR

(2014) Salvatore Incontro et al.   NEURON

Sequencing of a Patient with Balanced Chromosome Abnormalities and Neurodevelopmental Disease Identifies Disruption of Multiple High Risk Loci by Structural Variation

(2014) Jonathon Blake et al.   PLoS One

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

(2014) Kagistia H. Utami et al.   PLoS One

Genomic Editing Tools to Model Human Diseases with Isogenic Pluripotent Stem Cells

(2014) Huen Suk Kim et al.   STEM CELLS AND DEVELOPMENT

Formation of Chimeric Genes by Copy-Number Variation as a Mutational Mechanism in Schizophrenia

(2013) Caitlin Rippey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

(2013) Andrew Dauber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural variations, the regulatory landscape of the genome and their alteration in human disease

(2013) Malte Spielmann et al.   BIOESSAYS

miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability

(2013) Ying Qiao et al.   BMC GENOMICS

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

(2013) Lusine Nazaryan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

(2013) Sarah Vergult et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cancer translocations in human cells induced by zinc finger and TALE nucleases

(2013) M. Piganeau et al.   GENOME RESEARCH

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

(2013) Amelia M. Lindgren et al.   HUMAN GENETICS

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

(2013) Caroline Schluth-Bolard et al.   JOURNAL OF MEDICAL GENETICS

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

(2013) J C Hodge et al.   MOLECULAR PSYCHIATRY

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Regulation of nucleosome dynamics by histone modifications

(2013) Gabriel E Zentner et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Chromosomal deletions and inversions mediated by TALENs and CRISPR/Cas in zebrafish

(2013) An Xiao et al.   NUCLEIC ACIDS RESEARCH

Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion

(2013) Shinji Kunishima et al.   PEDIATRICS INTERNATIONAL

Structural Variation-Associated Expression Changes Are Paralleled by Chromatin Architecture Modifications

(2013) Nele Gheldof et al.   PLoS One

Properties and rates of germline mutations in humans

(2013) Catarina D. Campbell et al.   TRENDS IN GENETICS

MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review

(2013) Andreas J. Forstner et al.   Frontiers in Molecular Neuroscience

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

(2012) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities

(2012) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

(2012) Rui Luo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dosage Compensation of the Sex Chromosomes

(2012) Christine M. Disteche   Annual Review of Genetics

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder

(2012) Sean D Hooper et al.   BMC Medical Genetics

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Mechanisms for recurrent and complex human genomic rearrangements

(2012) Pengfei Liu et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

CNVs leading to fusion transcripts in individuals with autism spectrum disorder

(2012) Richard Holt et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Discovery of variants unmasked by hemizygous deletions

(2012) Ron Hochstenbach et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A decade of 3C technologies: insights into nuclear organization

(2012) E. de Wit et al.   GENES & DEVELOPMENT

A t(1;11) translocation linked to schizophrenia and affective disorders gives rise to aberrant chimeric DISC1 transcripts that encode structurally altered, deleterious mitochondrial proteins

(2012) Jennifer E. Eykelenboom et al.   HUMAN MOLECULAR GENETICS

Diagnostic interpretation of array data using public databases and internet sources

(2012) Nicole de Leeuw et al.   HUMAN MUTATION

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

(2012) Donna M McDonald-McGinn et al.   JOURNAL OF MEDICAL GENETICS

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

(2012) Christelle Golzio et al.   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

(2012) Colby Chiang et al.   NATURE GENETICS

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

(2012) Michael E. Talkowski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

(2012) Wigard P. Kloosterman et al.   Cell Reports

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Towards an evidence-based process for the clinical interpretation of copy number variation

(2011) ER Riggs et al.   CLINICAL GENETICS

Functional Enrichment Analysis with Structural Variants: Pitfalls and Strategies

(2011) C. Webber   CYTOGENETIC AND GENOME RESEARCH

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

Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions

(2011) A. Schlattl et al.   GENOME RESEARCH

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

(2011) N. L. M. Sobreira et al.   GENOME RESEARCH

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

(2011) Wigard P. Kloosterman et al.   HUMAN MOLECULAR GENETICS

Enhancer-adoption as a mechanism of human developmental disease

(2011) Laura A. Lettice et al.   HUMAN MUTATION

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

(2011) J. Y. Hehir-Kwa et al.   JOURNAL OF MEDICAL GENETICS

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

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

A Functional Element Necessary for Fetal Hemoglobin Silencing

(2011) Vijay G. Sankaran et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular Mechanisms in 22q11 Deletion Syndrome

(2011) N. M. Williams   SCHIZOPHRENIA BULLETIN

Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren Syndrome

(2011) Charlotte N. Henrichsen et al.   PLoS Computational Biology

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

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

(2010) L. Backx et al.   CYTOGENETIC AND GENOME RESEARCH

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Copy number variation modifies expression time courses

(2010) E. Chaignat et al.   GENOME RESEARCH

Transcriptome profile in Williams–Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits

(2010) Anna Antonell et al.   HUMAN GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Autonomous zinc-finger nuclease pairs for targeted chromosomal deletion

(2010) Cem Şöllü et al.   NUCLEIC ACIDS RESEARCH

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

(2010) Guénola Ricard et al.   PLOS BIOLOGY

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

(2010) Jayne Y. Hehir-Kwa et al.   PLoS Computational Biology

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human 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

Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene

(2009) I. Slade et al.   JOURNAL OF MEDICAL GENETICS

Long-range regulation at the SOX9 locus in development and disease

(2009) C T Gordon et al.   JOURNAL OF MEDICAL GENETICS

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS

Segmental copy number variation shapes tissue transcriptomes

(2009) Charlotte N Henrichsen et al.   NATURE GENETICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

Association and Mutation Analyses of 16p11.2 Autism Candidate Genes

(2009) Ravinesh A. Kumar et al.   PLoS One

Forging Links between Human Mental Retardation–Associated CNVs and Mouse Gene Knockout Models

(2009) Caleb Webber et al.   PLoS Genetics

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype

(2008) Giuseppe Borsani et al.   European Journal of Medical Genetics

Mapping translocation breakpoints by next-generation sequencing

(2008) W. Chen et al.   GENOME RESEARCH

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

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cellular reactions to gene dosage imbalance: genomic, transcriptomic and proteomic effects

(2008) Reiner A. Veitia et al.   TRENDS IN GENETICS