Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

(2018) Nehir Kurtas et al.   JOURNAL OF MEDICAL GENETICS

Fate of micronuclei and micronucleated cells

(2017) Henning Hintzsche et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Rebuilding Chromosomes After Catastrophe: Emerging Mechanisms of Chromothripsis

(2017) Peter Ly et al.   TRENDS IN CELL BIOLOGY

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma

(2017) Sam Behjati et al.   Nature Communications

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

(2017) Mircea Cretu Stancu et al.   Nature Communications

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

(2017) Sjors Middelkamp et al.   Genome Medicine

Nucleolar organizer regions: genomic ‘dark matter’ requiring illumination

(2016) Brian McStay   GENES & DEVELOPMENT

Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach

(2016) Zirui Dong et al.   GENETICS IN MEDICINE

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

(2016) Lusine Nazaryan-Petersen et al.   HUMAN MUTATION

A renewed model of pancreatic cancer evolution based on genomic rearrangement patterns

(2016) Faiyaz Notta et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Selective Y centromere inactivation triggers chromosome shattering in micronuclei and repair by non-homologous end joining

(2016) Peter Ly et al.   NATURE CELL BIOLOGY

Mechanisms for Complex Chromosomal Insertions

(2016) Shen Gu et al.   PLoS Genetics

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

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

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

(2015) Birgitte Bertelsen et al.   GENETICS IN MEDICINE

Chromothripsis in cancer cells: An update

(2015) Agata Rode et al.   INTERNATIONAL JOURNAL OF CANCER

Human Structural Variation: Mechanisms of Chromosome Rearrangements

(2015) Brooke Weckselblatt et al.   TRENDS IN GENETICS

Postnatal growth standards for preterm infants: the Preterm Postnatal Follow-up Study of the INTERGROWTH-21 st Project

(2015) José Villar et al.   Lancet Global Health

A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

(2014) Suhas S.P. Rao et al.   CELL

Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism

(2014) Karen E. Hermetz et al.   PLoS Genetics

LUMPY: a probabilistic framework for structural variant discovery

(2014) Ryan M Layer et al.   GENOME BIOLOGY

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

(2013) Come Raczy et al.   BIOINFORMATICS

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Topological domains in mammalian genomes identified by analysis of chromatin interactions

(2012) Jesse R. Dixon 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

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

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis

(2011) Ilse Feenstra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

(2011) Beata A Nowakowska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov 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

Describing structural changes by extending HGVS sequence variation nomenclature

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

Mapping and analysis of chromatin state dynamics in nine human cell types

(2011) Jason Ernst et al.   NATURE

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

Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis

(2010) V Grossmann et al.   CLINICAL GENETICS

Conserved role of intragenic DNA methylation in regulating alternative promoters

(2010) Alika K. Maunakea et al.   NATURE

Alternative end-joining is suppressed by the canonical NHEJ component Xrcc4–ligase IV during chromosomal translocation formation

(2010) Deniz Simsek et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Inverted duplications deletions: underdiagnosed rearrangements??

(2009) O Zuffardi et al.   CLINICAL GENETICS

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

(2009) Caroline Schluth-Bolard et al.   European Journal of Medical Genetics

Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome

(2009) E. Lieberman-Aiden et al.   SCIENCE