Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?-Reference-Cited by-同舟云学术

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

Published:2018-12-18 Issue:2 Volume:7 Page:e00496
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Kurtas Nehir Edibe¹^ORCID,Xumerle Luciano²,Giussani Ursula³,Pansa Alessandra³,Cardarelli Laura⁴,Bertini Veronica⁵,Valetto Angelo⁵,Liehr Thomas⁶,Clara Bonaglia Maria⁷,Errichiello Edoardo¹,Delledonne Massimo²,Zuffardi Orsetta¹

Affiliation:

1. Department of Molecular Medicine; University of Pavia; Pavia Italy

2. Personal Genomics srl, Department of Biotechnologies; University of Verona; Verona Italy

3. Ospedale Papa Giovanni XXIII; Bergamo Italy

4. Laboratorio Analisi CITOTEST. Sarmeola di Rubano; Padova Italy

5. Azienda Ospedaliero Universitaria Pisana; Pisa Italy

6. Institute of Human Genetics; Jena University Hospital; Jena Germany

7. Cytogenetics Laboratory, Scientific Institute; IRCCS Eugenio Medea; Lecco Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.496/fullpdf

Reference53 articles.

1. CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing;Abyzov;Genome Research,2011

2. Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma;Behjati;Nature Communications,2017

3. A germline chromothripsis event stably segregating in 11 individuals through three generations;Bertelsen;Genetics in Medicine,2015

4. Manta: Rapid detection of structural variants and indels for germline and cancer sequencing applications;Chen;Bioinformatics,2016

5. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration;Chiang;Nature Genetics,2012

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