Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel

(2017) Bradford Coffee et al.   Cancer Genetics

Long Neural Genes Harbor Recurrent DNA Break Clusters in Neural Stem/Progenitor Cells

(2016) Pei-Chi Wei et al.   CELL

L1-associated genomic regions are deleted in somatic cells of the healthy human brain

(2016) Jennifer A Erwin et al.   NATURE NEUROSCIENCE

Ubiquitous L1 Mosaicism in Hippocampal Neurons

(2015) Kyle R. Upton et al.   CELL

LINE-1 expression and retrotransposition in Barrett’s esophagus and esophageal carcinoma

(2015) Tara T. Doucet-O'Hare et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Double strand break repair by capture of retrotransposon sequences and reverse-transcribed spliced mRNA sequences in mouse zygotes

(2015) Ryuichi Ono et al.   Scientific Reports

Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing

(2014) E. Helman et al.   GENOME RESEARCH

Mobile DNA elements in the generation of diversity and complexity in the brain

(2014) Jennifer A. Erwin et al.   NATURE REVIEWS NEUROSCIENCE

Increased L1 Retrotransposition in the Neuronal Genome in Schizophrenia

(2014) Miki Bundo et al.   NEURON

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

(2014) Shai Carmi et al.   Nature Communications

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

(2013) Anath C. Lionel et al.   HUMAN MOLECULAR GENETICS

Autism

(2013) Meng-Chuan Lai et al.   LANCET

Physiologic brain activity causes DNA double-strand breaks in neurons, with exacerbation by amyloid-β

(2013) Elsa Suberbielle et al.   NATURE NEUROSCIENCE

Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome

(2013) Miyake Kunio et al.   PLoS One

Channelopathy pathogenesis in autism spectrum disorders

(2013) Galina Schmunk et al.   Frontiers in Genetics

LINE-1 Retrotransposition in the Nervous System

(2012) Charles A. Thomas et al.   Annual Review of Cell and Developmental Biology

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

(2012) Gilad D. Evrony et al.   CELL

Human Transposon Tectonics

(2012) Kathleen H. Burns et al.   CELL

Active human retrotransposons: variation and disease

(2012) Dustin C Hancks et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Landscape of Somatic Retrotransposition in Human Cancers

(2012) E. Lee et al.   SCIENCE

LINE-1 Elements in Structural Variation and Disease

(2011) Christine R. Beck et al.   Annual Review of Genomics and Human Genetics

Tsc1 mutant neural stem/progenitor cells exhibit migration deficits and give rise to subependymal lesions in the lateral ventricle

(2011) J. Zhou et al.   GENES & DEVELOPMENT

Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads

(2011) Paolo Carnevali et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Somatic retrotransposition alters the genetic landscape of the human brain

(2011) J. Kenneth Baillie et al.   NATURE

Dynamic interactions between transposable elements and their hosts

(2011) Henry L. Levin et al.   NATURE REVIEWS GENETICS

Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells

(2011) N. G. Coufal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans

(2011) Chip Stewart et al.   PLoS Genetics

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes

(2010) A. D. Ewing et al.   GENOME RESEARCH

L1 retrotransposition in neurons is modulated by MeCP2

(2010) Alysson R. Muotri et al.   NATURE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

L1 retrotransposition in human neural progenitor cells

(2009) Nicole G. Coufal et al.   NATURE

Large-scale discovery of insertion hotspots and preferential integration sites of human transposed elements

(2009) Asaf Levy et al.   NUCLEIC ACIDS RESEARCH

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

(2008) A. Piton et al.   HUMAN MOLECULAR GENETICS