A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains

Constitutional chromothripsis involving chromosome 19 in a child with subtle dysmorphic features

(2015) Jia-Chi Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Linking Micronuclei to Chromosome Fragmentation

(2015) Emily M. Hatch et al.   CELL

Mammalian polymerase θ promotes alternative NHEJ and suppresses recombination

(2015) Pedro A. Mateos-Gomez et al.   NATURE

Chromothripsis from DNA damage in micronuclei

(2015) Cheng-Zhong Zhang et al.   NATURE

Landscape of chromosomal copy number aberrations in gangliogliomas and dysembryoplastic neuroepithelial tumours

(2015) Avanita S. Prabowo et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient

(2014) Julie Plaisancié et al.   European Journal of Medical Genetics

Polymerase theta-mediated end joining of replication-associated DNA breaks in C. elegans

(2014) S. F. Roerink et al.   GENOME RESEARCH

DNA-Damage Response during Mitosis Induces Whole-Chromosome Missegregation

(2014) S. F. Bakhoum et al.   Cancer Discovery

Pseudoautosomal Region 1 Length Polymorphism in the Human Population

(2014) Martin A. Mensah et al.   PLoS Genetics

Ensembl 2014

(2013) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

Change-point model on nonhomogeneous Poisson processes with application in copy number profiling by next-generation DNA sequencing

(2012) Jeremy J. Shen et al.   Annals of Applied Statistics

DNA breaks and chromosome pulverization from errors in mitosis

(2012) Karen Crasta et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements

(2012) Andrew J Holland et al.   NATURE MEDICINE

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

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

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

(2011) Philip J. Stephens et al.   CELL

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

(2011) Pengfei Liu et al.   CELL

Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene

(2011) A. Ankala 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

The patterns and dynamics of genomic instability in metastatic pancreatic cancer

(2010) Peter J. Campbell et al.   NATURE

Dual Roles for DNA Polymerase Theta in Alternative End-Joining Repair of Double-Strand Breaks in Drosophila

(2010) Sze Ham Chan et al.   PLoS Genetics

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Circos: An information aesthetic for comparative genomics

(2009) M. Krzywinski et al.   GENOME RESEARCH

Complex landscapes of somatic rearrangement in human breast cancer genomes

(2009) Philip J. Stephens et al.   NATURE

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

(2009) Ken Chen et al.   NATURE METHODS

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

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

Direct fluorescent labelling of clones by DOP PCR

(2008) Liesbeth Backx et al.   Molecular Cytogenetics