Impact of polymorphic transposable elements on transcription in lymphoblastoid cell lines from public data

Transposable elements generate regulatory novelty in a tissue-specific fashion

(2018) Marco Trizzino et al.   BMC GENOMICS

The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology

(2017) Eugene J. Gardner et al.   GENOME RESEARCH

A genomic perspective on HLA evolution

(2017) Diogo Meyer et al.   IMMUNOGENETICS

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition

(2017) Thomas Arbogast et al.   PLoS Genetics

A genome-wide investigation of food addiction

(2016) Marilyn C. Cornelis et al.   Obesity

Identification of antisense long noncoding RNAs that function as SINEUPs in human cells

(2016) Aleks Schein et al.   Scientific Reports

Alu-miRNA interactions modulate transcript isoform diversity in stress response and reveal signatures of positive selection

(2016) Rajesh Pandey et al.   Scientific Reports

Copy number variation analysis of the 17q21.31 region and its role in neurodegenerative diseases

(2015) Laura Cervera-Carles et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome

(2015) María Moreno-Igoa et al.   BMC Medical Genetics

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

(2015) David A Koolen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

HLA supertype variation across populations: new insights into the role of natural selection in the evolution of HLA-A and HLA-B polymorphisms

(2015) Rodrigo dos Santos Francisco et al.   IMMUNOGENETICS

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

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A family of transposable elements co-opted into developmental enhancers in the mouse neocortex

(2015) James H. Notwell et al.   Nature Communications

Functional Consequences of 17q21.31/WNT3-WNT9B Amplification in hPSCs with Respect to Neural Differentiation

(2015) Chun-Ting Lee et al.   Cell Reports

Expression quantitative trait locus analysis for translational medicine

(2015) Greg Gibson et al.   Genome Medicine

Family based genome-wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics

(2014) Avinash M. Veerappa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis

(2014) Matthieu Egloff et al.   CYTOGENETIC AND GENOME RESEARCH

Genome-wide association study of smoking behaviours among Bangladeshi adults

(2014) Maria Argos et al.   JOURNAL OF MEDICAL GENETICS

An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS

(2014) Abigail L. Savage et al.   PLoS One

Alu elements shape the primate transcriptome by cis-regulation of RNA editing

(2014) Chammiran Daniel et al.   GENOME BIOLOGY

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Matrix eQTL: ultra fast eQTL analysis via large matrix operations

(2012) A. A. Shabalin   BIOINFORMATICS

On the Structural Plasticity of the Human Genome: Chromosomal Inversions Revisited

(2012) Joao M. Alves et al.   CURRENT GENOMICS

Primate segmental duplication creates novel promoters for theLRRC37gene family within the 17q21.31 inversion polymorphism region

(2012) Cemalettin Bekpen et al.   GENOME RESEARCH

Long non-coding antisense RNA controls Uchl1 translation through an embedded SINEB2 repeat

(2012) Claudia Carrieri et al.   NATURE

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

(2012) Marcella Zollino et al.   NATURE GENETICS

A-to-I RNA Editing: Effects on Proteins Key to Neural Excitability

(2012) Joshua J.C. Rosenthal et al.   NEURON

Cell type-specific termination of transcription by transposable element sequences

(2012) Andrew B Conley et al.   Mobile DNA

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

(2011) Mariko Taniguchi-Ikeda et al.   NATURE

The non-autonomous retrotransposon SVA is trans -mobilized by the human LINE-1 protein machinery

(2011) Julija Raiz et al.   NUCLEIC ACIDS RESEARCH

Variation in Human Recombination Rates and Its Genetic Determinants

(2011) Adi Fledel-Alon et al.   PLoS One

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome

(2010) Cheng Ran Lisa Huang et al.   CELL

Alu repeat discovery and characterization within human genomes

(2010) F. Hormozdiari et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

GREAT improves functional interpretation of cis-regulatory regions

(2010) Cory Y McLean et al.   NATURE BIOTECHNOLOGY

Transposable elements have rewired the core regulatory network of human embryonic stem cells

(2010) Galih Kunarso et al.   NATURE GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Alu repeats increase local recombination rates

(2009) David J Witherspoon et al.   BMC GENOMICS

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

(2009) B Grisart et al.   JOURNAL OF MEDICAL GENETICS

Reply: A unified classification system for eukaryotic transposable elements should reflect their phylogeny

(2009) Thomas Wicker et al.   NATURE REVIEWS GENETICS

Retroviral promoters in the human genome

(2008) Andrew B. Conley et al.   BIOINFORMATICS

Natural selection has driven population differentiation in modern humans

(2008) Luis B Barreiro et al.   NATURE GENETICS

Alternative splicing of Alu exons—two arms are better than one

(2008) Nurit Gal-Mark et al.   NUCLEIC ACIDS RESEARCH