Related references
Note: Only part of the references are listed.Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Dario G. Lupianez et al.
CELL (2015)
Identification of common genetic variants controlling transcript isoform variation in human whole blood
Xiaoling Zhang et al.
NATURE GENETICS (2015)
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C. Taylor et al.
NATURE GENETICS (2015)
High-throughput functional genomics using CRISPR-Cas9
Ophir Shalem et al.
NATURE REVIEWS GENETICS (2015)
TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis
N. Wu et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice
Katerina Kraft et al.
CELL REPORTS (2015)
The Genetic and Mechanistic Basis for Variation in Gene Regulation
Athma A. Pai et al.
PLOS GENETICS (2015)
Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
Dagmar Wieczorek et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval
Ashish Kapoor et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families
Ian Blumenthal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
A Common Functional Regulatory Variant at a Type 2 Diabetes Locus Upregulates ARAP1 Expression in the Pancreatic Beta Cell
Jennifer R. Kulzer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
A Rare Functional Noncoding Variant at the GWAS-Implicated MIR137/MIR2682 Locus Might Confer Risk to Schizophrenia and Bipolar Disorder
Jubao Duan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
An APOA5 3′ UTR Variant Associated with Plasma Triglycerides Triggers APOA5 Downregulation by Creating a Functional miR-485-5p Binding Site
Cyrielle Caussy et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Scoliosis and Vertebral Anomalies: Additional Abnormal Phenotypes Associated with Chromosome 16p11.2 Rearrangement
Hussam Al-Kateb et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Genetic Variation in Human DNA Replication Timing
Amnon Koren et al.
CELL (2014)
A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping
Suhas S. P. Rao et al.
CELL (2014)
Restless Legs Syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon
Derek Spieler et al.
GENOME RESEARCH (2014)
Genome-wide map of regulatory interactions in the human genome
Nastaran Heidari et al.
GENOME RESEARCH (2014)
Distinct Patterns of Genetic Variations in Potential Functional Elements in Long Noncoding RNAs
Deeksha Bhartiya et al.
HUMAN MUTATION (2014)
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yaping Yang et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers
Ralph Stadhouders et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
Michael N. Weedon et al.
NATURE GENETICS (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment
Jim R. Hughes et al.
NATURE GENETICS (2014)
Functional annotation of noncoding sequence variants
Graham R. S. Ritchie et al.
NATURE METHODS (2014)
A Role for Noncoding Variation in Schizophrenia
Panos Roussos et al.
CELL REPORTS (2014)
Beyond GWASs: Illuminating the Dark Road from Association to Function
Stacey L. Edwards et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
On the Immortality of Television Sets: Function in the Human Genome According to the Evolution-Free Gospel of ENCODE
Dan Graur et al.
GENOME BIOLOGY AND EVOLUTION (2013)
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder
Przemyslaw Szafranski et al.
GENOME RESEARCH (2013)
Chromatin marks identify critical cell types for fine mapping complex trait variants
Gosia Trynka et al.
NATURE GENETICS (2013)
Genome-wide association analysis identifies 13 new risk loci for schizophrenia
Stephan Ripke et al.
NATURE GENETICS (2013)
RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
Christopher J. Donnelly et al.
NEURON (2013)
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yaping Yang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
TBX6, LHX1 and copy number variations in the complex genetics of Mullerian aplasia
Maria Sandbacka et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Structural Variation-Associated Expression Changes Are Paralleled by Chromatin Architecture Modifications
Nele Gheldof et al.
PLOS ONE (2013)
An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level
Daniel E. Bauer et al.
SCIENCE (2013)
Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion
Dhruv Sareen et al.
SCIENCE TRANSLATIONAL MEDICINE (2013)
DNA Replication Timing
Nicholas Rhind et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)
Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits
Melanie Lacaria et al.
HUMAN MOLECULAR GENETICS (2012)
Identification of the first recurrent PAR1 deletion in Leri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer
Sara Benito-Sanz et al.
JOURNAL OF MEDICAL GENETICS (2012)
DNase I sensitivity QTLs are a major determinant of human expression variation
Jacob F. Degner et al.
NATURE (2012)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
NATURE (2012)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay
Alexandre Melnikov et al.
NATURE BIOTECHNOLOGY (2012)
Massively parallel functional dissection of mammalian enhancers in vivo
Rupali P. Patwardhan et al.
NATURE BIOTECHNOLOGY (2012)
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Cornelis A. Albers et al.
NATURE GENETICS (2012)
Robust 4C-seq data analysis to screen for regulatory DNA interactions
Harmen J. G. van de Werken et al.
NATURE METHODS (2012)
Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth
Uma M. Reddy et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
Ronald J. Wapner et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men
Melanie Lacaria et al.
PLOS GENETICS (2012)
Intra-Family Phenotypic Heterogeneity of 16p11.2 Deletion Carriers in a Three-Generation Chinese Family
Yiping Shen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2011)
Clan Genomics and the Complex Architecture of Human Disease
James R. Lupski et al.
CELL (2011)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Sebastien Jacquemont et al.
NATURE (2011)
A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder.
James J. Cox et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
Feng Zhang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease
Marian A. J. Weterman et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
R. G. Walters et al.
NATURE (2010)
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy.
James R. Lupski et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models
Guenola Ricard et al.
PLOS BIOLOGY (2010)
Genome sequencing reveals Charcot-Marie-Tooth disease mutation
[Anonymous]
FUTURE NEUROLOGY (2010)
Copy Number Variation in Human Health, Disease, and Evolution
Feng Zhang et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion
Lawrence R. Shiow et al.
CLINICAL IMMUNOLOGY (2009)
Changes in Insulin Sensitivity and Insulin Release in Relation to Glycemia and Glucose Tolerance in 6,414 Finnish Men
Alena Stancakova et al.
DIABETES (2009)
A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae
Keiko Shimojima et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)
Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia
Ingo Kurth et al.
NATURE GENETICS (2009)
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
Sabina Benko et al.
NATURE GENETICS (2009)
Gender Differences Relating to Metabolic Syndrome and Proinflammation in Finnish Subjects with Elevated Blood Pressure
Tiina Ahonen et al.
MEDIATORS OF INFLAMMATION (2009)
The Human Gene Mutation Database: 2008 update
Peter D. Stenson et al.
GENOME MEDICINE (2009)
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
Steven A. McCarroll et al.
NATURE GENETICS (2008)
Structural genomic variation and personalized medicine
Charles Lee et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Association between microdeletion and microduplication at 16p11.2 and autism
Lauren A. Weiss et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Recurrent 16p11.2 microdeletions in autism
Ravinesh A. Kumar et al.
HUMAN MOLECULAR GENETICS (2008)
Male-to-female sex reversal associated with an-250 kb deletion upstream of NR0B1 (DAX1)
Marta Smyk et al.
HUMAN GENETICS (2007)
SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway
Gabriel A. Bien-Willner et al.
HUMAN MOLECULAR GENETICS (2007)
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
Eva Klopocki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)
Katherina Walz et al.
JOURNAL OF CLINICAL INVESTIGATION (2006)
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization
Dan E. Arking et al.
NATURE GENETICS (2006)
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect
JA Lee et al.
ANNALS OF NEUROLOGY (2006)
Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
JR Lupski et al.
PLOS GENETICS (2005)
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency
N Kurotaki et al.
GENETICS IN MEDICINE (2005)
Screening of the 1 Mb SOX9 5′ control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal -: art. no. e47
R Pop et al.
JOURNAL OF MEDICAL GENETICS (2004)