A germline chromothripsis event stably segregating in 11 individuals through three generations

Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring

(2015) Mirjam S. de Pagter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature

(2014) Zehra Ordulu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

(2013) Lusine Nazaryan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Familial Cri-du-Chat/5p Deletion Syndrome Resulted from Rare Maternal Complex Chromosomal Rearrangements (CCRs) and/or Possible Chromosome 5p Chromothripsis

(2013) Heng Gu et al.   PLoS One

Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome

(2012) Akio Tanaka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Unstable transmission of a familial complex chromosome rearrangement

(2012) Ellen van Binsbergen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Role and Therapeutic Potential of Ser/Thr Phosphatase PP2A in Apoptotic Signalling Networks in Human Cancer Cells

(2012) V. Janssens et al.   CURRENT MOLECULAR MEDICINE

Chromothripsis: Chromosomes in Crisis

(2012) Mathew J.K. Jones et al.   DEVELOPMENTAL CELL

Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound HeterozygousATRMutations

(2012) Houda Mokrani-Benhelli et al.   HUMAN MUTATION

Essential role of gastric gland mucin in preventing gastric cancer in mice

(2012) Fumitoshi Karasawa et al.   JOURNAL OF CLINICAL INVESTIGATION

DNA breaks and chromosome pulverization from errors in mitosis

(2012) Karen Crasta et al.   NATURE

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

(2012) Colby Chiang et al.   NATURE GENETICS

Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models

(2012) Maria Armakola et al.   NATURE GENETICS

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

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

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Philip J. Stephens et al.   CELL

Dynamics of DNA damage response proteins at DNA breaks: a focus on protein modifications

(2011) S. E. Polo et al.   GENES & DEVELOPMENT

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

(2011) Wigard P. Kloosterman et al.   HUMAN MOLECULAR GENETICS

Describing structural changes by extending HGVS sequence variation nomenclature

(2011) Peter E.M. Taschner et al.   HUMAN MUTATION

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

(2011) Wigard P Kloosterman et al.   GENOME BIOLOGY

SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data

(2010) Bruno Zeitouni et al.   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

ATR/Mec1: coordinating fork stability and repair

(2009) Anna M Friedel et al.   CURRENT OPINION IN CELL BIOLOGY

The Zn Finger protein Iguana impacts Hedgehog signaling by promoting ciliogenesis

(2009) Andrew M. Glazer et al.   DEVELOPMENTAL BIOLOGY

Genetic Variation in a4GnT in Relation to Helicobacter pylori Serology and Gastric Cancer Risk

(2009) Zongli Zheng et al.   HELICOBACTER

The DNA-damage response in human biology and disease

(2009) Stephen P. Jackson et al.   NATURE

ATR: an essential regulator of genome integrity

(2008) Karlene A. Cimprich et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY