Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

(2016) Darío G. Lupiáñez et al.   TRENDS IN GENETICS

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

(2016) Debra D’Angelo et al.   JAMA Psychiatry

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

(2015) Eugenia Migliavacca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Population Variation and Genetic Control of Modular Chromatin Architecture in Humans

(2015) Sebastian M. Waszak et al.   CELL

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

(2015) Darío G. Lupiáñez et al.   CELL

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

(2015) Katrin Männik et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

(2015) Nan Wu et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Behavioral Profile in RASopathies

(2014) Paolo Alfieri et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic disorders associated with postnatal microcephaly

(2014) Laurie E. Seltzer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

(2014) Suhas S.P. Rao et al.   CELL

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms

(2014) Madeleine Fannemel et al.   European Journal of Medical Genetics

Pronounced cohabitation of active immunoglobulin genes from three different chromosomes in transcription factories during maximal antibody synthesis

(2014) S.-K. Park et al.   GENES & DEVELOPMENT

Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures

(2014) Giuliana Giannuzzi et al.   GENOME RESEARCH

Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome

(2014) Meijun Du et al.   HUMAN MOLECULAR GENETICS

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

(2014) Eva M. Reinthaler et al.   HUMAN MOLECULAR GENETICS

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

(2014) A M Maillard et al.   MOLECULAR PSYCHIATRY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

HTSstation: A Web Application and Open-Access Libraries for High-Throughput Sequencing Data Analysis

(2014) Fabrice P. A. David et al.   PLoS One

Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1

(2014) Carolina J. Jorgez et al.   PLoS One

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

(2013) Santhosh Girirajan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome

(2013) Joyce M.G. Florisson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Genome in Three Dimensions: A New Frontier in Human Brain Research

(2013) Amanda C. Mitchell et al.   BIOLOGICAL PSYCHIATRY

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool

(2013) Edward Y Chen et al.   BMC BIOINFORMATICS

Chromosomal Contact Permits Transcription between Coregulated Genes

(2013) Stephanie Fanucchi et al.   CELL

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes includingGRIN2AandPRRT2

(2013) Sarra Dimassi et al.   EPILEPSIA

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

(2013) Duncan B. Sparrow et al.   HUMAN MOLECULAR GENETICS

Autism traits in the RASopathies

(2013) Brigid Adviento et al.   JOURNAL OF MEDICAL GENETICS

Topology of mammalian developmental enhancers and their regulatory landscapes

(2013) Wouter de Laat et al.   NATURE

Chromatin connectivity maps reveal dynamic promoter–enhancer long-range associations

(2013) Yubo Zhang et al.   NATURE

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

Disclosure of a structural milieu for the proximity ligation reveals the elusive nature of an active chromatin hub

(2013) Alexey A. Gavrilov et al.   NUCLEIC ACIDS RESEARCH

Rare Genomic Structural Variants in Complex Disease: Lessons from the Replication of Associations with Obesity

(2013) Robin G. Walters et al.   PLoS One

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

(2013) Nele Gheldof et al.   PLoS One

Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription

(2013) H. Kilpinen et al.   SCIENCE

Implication of a Rare Deletion at Distal 16p11.2 in Schizophrenia

(2013) Saurav Guha   JAMA Psychiatry

Mechanical cues in cellular signalling and communication

(2012) Nickolay V. Bukoreshtliev et al.   CELL AND TISSUE RESEARCH

Supernumerary Centrosomes Nucleate Extra Cilia and Compromise Primary Cilium Signaling

(2012) Moe R. Mahjoub et al.   CURRENT BIOLOGY

The extracellular matrix and ciliary signaling

(2012) Tamina Seeger-Nukpezah et al.   CURRENT OPINION IN CELL BIOLOGY

Transcription factories: genetic programming in three dimensions

(2012) Lucas Brandon Edelman et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes

(2012) A. Blaker-Lee et al.   Disease Models & Mechanisms

Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst

(2012) Vishwanathan Hucthagowder et al.   European Journal of Medical Genetics

Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation

(2012) Maria Piccione et al.   European Journal of Medical Genetics

Identification of a patient with intellectual disability and de novo 3.7Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15

(2012) Miroslava Hancarova et al.   GENE

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

(2012) Anthony J. Griswold et al.   HUMAN MOLECULAR GENETICS

Candidate genes for obesity-susceptibility show enriched association within a large genome-wide association study for BMI

(2012) Karani S. Vimaleswaran et al.   HUMAN MOLECULAR GENETICS

Targeting and transport: How microtubules control focal adhesion dynamics

(2012) Samantha Stehbens et al.   JOURNAL OF CELL BIOLOGY

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

(2012) Michael E. Doche et al.   JOURNAL OF CLINICAL INVESTIGATION

The Importance of the Erk Pathway in the Development of Linker for Activation of T Cells-Mediated Autoimmunity

(2012) D. M. Fuller et al.   JOURNAL OF IMMUNOLOGY

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

(2012) Flore Zufferey et al.   JOURNAL OF MEDICAL GENETICS

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

(2012) Christelle Golzio et al.   NATURE

Topological domains in mammalian genomes identified by analysis of chromatin interactions

(2012) Jesse R. Dixon et al.   NATURE

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

(2012) Bin Xu et al.   NATURE GENETICS

PTEN Mutations as a Cause of Constitutive Insulin Sensitivity and Obesity

(2012) Aparna Pal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

(2012) Andrea Franceschini et al.   NUCLEIC ACIDS RESEARCH

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

(2011) Magnus K. Bjursell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

(2011) Andrea K. Vaags et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?

(2011) Daniela Q.C.M. Barge-Schaapveld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletion 2p15-16.1 syndrome: Case report and review

(2011) Paolo Prontera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

(2011) E Chabchoub et al.   CLINICAL GENETICS

2p15–p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders

(2011) Xudong Liu et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Role of Two Adaptor Molecules SLP-76 and LAT in the PI3K Signaling Pathway in Activated T Cells

(2011) E. K. Shim et al.   JOURNAL OF IMMUNOLOGY

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE GENETICS

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

g:Profiler—a web server for functional interpretation of gene lists (2011 update)

(2011) Jüri Reimand et al.   NUCLEIC ACIDS RESEARCH

Understanding the impact of 1q21.1 copy number variant

(2011) Chansonette Harvard et al.   Orphanet Journal of Rare Diseases

The Dynamic Architecture of Hox Gene Clusters

(2011) D. Noordermeer et al.   SCIENCE

Interactions among Polycomb Domains Are Guided by Chromosome Architecture

(2011) Bas Tolhuis et al.   PLoS Genetics

Further characterization of microdeletion syndrome involving 2p15-p16.1

(2010) Têmis Maria Félix et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

(2010) Matthew G. Sampson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

(2010) Ruxandra Bachmann-Gagescu et al.   GENETICS IN MEDICINE

A tale of two TRAPs: LAT and LAB in the regulation of lymphocyte development, activation, and autoimmunity

(2010) Deirdre M. Fuller et al.   IMMUNOLOGIC RESEARCH

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

(2010) Francesca Antonacci et al.   NATURE GENETICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

(2010) Elizabeth K Speliotes et al.   NATURE GENETICS

The Association Analysis of TBX6 Polymorphism With Susceptibility to Congenital Scoliosis in a Chinese Han Population

(2010) Qi Fei et al.   SPINE

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome

(2009) Oliver Bartsch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

(2009) Marianne Doornbos 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

Deletions in theVPS13B(COH1) gene as a cause of Cohen syndrome

(2009) I. Balikova et al.   HUMAN MUTATION

A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion

(2009) J-S Liang et al.   JOURNAL OF MEDICAL GENETICS

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

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Mechanisms of change in gene copy number

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

Genetic Structure of Europeans: A View from the North–East

(2009) Mari Nelis et al.   PLoS One

Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome

(2009) E. Lieberman-Aiden et al.   SCIENCE

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

(2008) Mathieu Firmann et al.   BMC Cardiovascular Disorders

Noonan Syndrome-associated SHP-2/Ptpn11Mutants Enhance SIRPα and PZR Tyrosyl Phosphorylation and Promote Adhesion-mediated ERK Activation

(2008) Seda Eminaga et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

(2008) Chiara Sabatti et al.   NATURE GENETICS

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

(2008) Gudmar Thorleifsson 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

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

(2008) Cristen J Willer et al.   NATURE GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Global Chromatin Domain Organization of the Drosophila Genome

(2008) Elzo de Wit et al.   PLoS Genetics