Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

Microhomology-mediated end joining: Good, bad and ugly

(2018) Ja-Hwan Seol et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Rebuilding Chromosomes After Catastrophe: Emerging Mechanisms of Chromothripsis

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

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

(2017) Sjors Middelkamp et al.   Genome Medicine

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

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

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

(2016) Peter Ly et al.   NATURE CELL BIOLOGY

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

(2016) Claire Redin et al.   NATURE GENETICS

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

(2016) Hallie Steinfeld et al.   NEUROGENETICS

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

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition

(2015) Tazeen Ashraf et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

(2015) Nicolas Chatron et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neurological Aspects of Human Glycosylation Disorders

(2015) Hudson H. Freeze et al.   Annual Review of Neuroscience

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review

(2015) Stefano Stagi et al.   BMC Medical Genetics

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

(2015) Siddharth Srivastava et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2015) Birgitte Bertelsen et al.   GENETICS IN MEDICINE

Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis

(2015) Brooke Weckselblatt et al.   GENOME RESEARCH

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

(2015) Peter H. Sudmant et al.   NATURE

Exome sequencing identifies SUCO mutations in mesial temporal lobe epilepsy

(2015) Zhiqiang Sha et al.   NEUROSCIENCE LETTERS

Microhomology-Mediated End Joining: A Back-up Survival Mechanism or Dedicated Pathway?

(2015) Agnel Sfeir et al.   TRENDS IN BIOCHEMICAL SCIENCES

Human Structural Variation: Mechanisms of Chromosome Rearrangements

(2015) Brooke Weckselblatt et al.   TRENDS IN GENETICS

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

(2015) Hanan E. Shamseldin et al.   GENOME BIOLOGY

Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review

(2014) Franck Pellestor et al.   FERTILITY AND STERILITY

DELLY: structural variant discovery by integrated paired-end and split-read analysis

(2012) T. Rausch et al.   BIOINFORMATICS

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

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF 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

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

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

Complex chromosomal rearrangements: origin and meiotic behavior

(2011) F. Pellestor et al.   HUMAN REPRODUCTION UPDATE

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

(2010) Bruno Zeitouni et al.   BIOINFORMATICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN 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