Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing

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

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

Chromothripsis: how does such a catastrophic event impact human reproduction?

(2014) F. Pellestor   HUMAN REPRODUCTION

Chromothripsis in congenital disorders and cancer: similarities and differences

(2013) Wigard P Kloosterman et al.   CURRENT OPINION IN CELL BIOLOGY

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

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

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

De novobalanced chromosome rearrangements in prenatal diagnosis

(2009) Daniela Giardino et al.   PRENATAL DIAGNOSIS