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Literature DB >> 25043231

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

M J Macera¹, A Sobrino, B Levy, V Jobanputra, V Aggarwal, A Mills, C Esteves, C Hanscom, S Pereira, V Pillalamarri, Z Ordulu, C C Morton, M Talkowski, D Warburton.

Abstract

Entities: Disease Species

Mesh：

Year: 2015 PMID： 25043231 PMCID： PMC4668937 DOI： 10.1002/pd.4456

Source DB: PubMed Journal: Prenat Diagn ISSN： 0197-3851 Impact factor: 3.050

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8 in total

1. De novo balanced chromosome rearrangements in prenatal diagnosis.

Authors: Daniela Giardino; Cecilia Corti; Lucia Ballarati; Daniela Colombo; Elena Sala; Nicoletta Villa; Giuseppe Piombo; Mauro Pierluigi; Francesca Faravelli; Silvana Guerneri; Domenico Coviello; Faustina Lalatta; Ugo Cavallari; Daniela Bellotti; Sergio Barlati; Gianfranco Croci; Fabrizia Franchi; Elisa Savin; Gianfranco Nocera; Francesco Paolo Amico; Paola Granata; Rosario Casalone; Lucia Nutini; Ermanna Lisi; Francesca Torricelli; Ursula Giussani; Barbara Facchinetti; Ginevra Guanti; Marilena Di Giacomo; Francesco Paolo Susca; Vanna Pecile; Lorenza Romitti; Laura Cardarelli; Erika Racalbuto; Maria Adalgisa Police; Francamaria Chiodo; Ornella Rodeschini; Patrizia Falcone; Emilio Donti; Maria Grazia Grimoldi; Emanuela Martinoli; Sabine Stioui; Daniele Caufin; Salvatrice Antonia Lauricella; Salvatrice Antonella Tanzariello; Gianfranco Voglino; Elisabetta Lenzini; Marco Besozzi; Lidia Larizza; Leda Dalprà
Journal: Prenat Diagn Date: 2009-03 Impact factor: 3.050

2. Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Authors: Wigard P Kloosterman; Masoumeh Tavakoli-Yaraki; Markus J van Roosmalen; Ellen van Binsbergen; Ivo Renkens; Karen Duran; Lucia Ballarati; Sarah Vergult; Daniela Giardino; Kerstin Hansson; Claudia A L Ruivenkamp; Myrthe Jager; Arie van Haeringen; Elly F Ippel; Thomas Haaf; Eberhard Passarge; Ron Hochstenbach; Björn Menten; Lidia Larizza; Victor Guryev; Martin Poot; Edwin Cuppen
Journal: Cell Rep Date: 2012-06-15 Impact factor: 9.423

Review 3. Chromothripsis in congenital disorders and cancer: similarities and differences.

Authors: Wigard P Kloosterman; Edwin Cuppen
Journal: Curr Opin Cell Biol Date: 2013-03-13 Impact factor: 8.382

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

Authors: Franck Pellestor
Journal: Hum Reprod Date: 2014-01-21 Impact factor: 6.918

5. Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.

Authors: Zehra Ordulu; Kristen E Wong; Benjamin B Currall; Andrew R Ivanov; Shahrin Pereira; Sara Althari; James F Gusella; Michael E Talkowski; Cynthia C Morton
Journal: Am J Hum Genet Date: 2014-04-17 Impact factor: 11.025

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

Authors: Wigard P Kloosterman; Victor Guryev; Mark van Roosmalen; Karen J Duran; Ewart de Bruijn; Saskia C M Bakker; Tom Letteboer; Bernadette van Nesselrooij; Ron Hochstenbach; Martin Poot; Edwin Cuppen
Journal: Hum Mol Genet Date: 2011-02-24 Impact factor: 6.150

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

Authors: Colby Chiang; Jessie C Jacobsen; Carl Ernst; Carrie Hanscom; Adrian Heilbut; Ian Blumenthal; Ryan E Mills; Andrew Kirby; Amelia M Lindgren; Skye R Rudiger; Clive J McLaughlan; C Simon Bawden; Suzanne J Reid; Richard L M Faull; Russell G Snell; Ira M Hall; Yiping Shen; Toshiro K Ohsumi; Mark L Borowsky; Mark J Daly; Charles Lee; Cynthia C Morton; Marcy E MacDonald; James F Gusella; Michael E Talkowski
Journal: Nat Genet Date: 2012-03-04 Impact factor: 38.330

8. Massive genomic rearrangement acquired in a single catastrophic event during cancer development.

Authors: Philip J Stephens; Chris D Greenman; Beiyuan Fu; Fengtang Yang; Graham R Bignell; Laura J Mudie; Erin D Pleasance; King Wai Lau; David Beare; Lucy A Stebbings; Stuart McLaren; Meng-Lay Lin; David J McBride; Ignacio Varela; Serena Nik-Zainal; Catherine Leroy; Mingming Jia; Andrew Menzies; Adam P Butler; Jon W Teague; Michael A Quail; John Burton; Harold Swerdlow; Nigel P Carter; Laura A Morsberger; Christine Iacobuzio-Donahue; George A Follows; Anthony R Green; Adrienne M Flanagan; Michael R Stratton; P Andrew Futreal; Peter J Campbell
Journal: Cell Date: 2011-01-07 Impact factor: 41.582

8 in total

15 in total

1. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.

Authors: Bruno Faulin Gamba; Antônio Richieri-Costa; Silvia Costa; Carla Rosenberg; Lucilene Arilho Ribeiro-Bicudo
Journal: Mol Genet Genomics Date: 2015-06-04 Impact factor: 3.291

2. Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Authors: Zehra Ordulu; Tammy Kammin; Harrison Brand; Vamsee Pillalamarri; Claire E Redin; Ryan L Collins; Ian Blumenthal; Carrie Hanscom; Shahrin Pereira; India Bradley; Barbara F Crandall; Pamela Gerrol; Mark A Hayden; Naveed Hussain; Bibi Kanengisser-Pines; Sibel Kantarci; Brynn Levy; Michael J Macera; Fabiola Quintero-Rivera; Erica Spiegel; Blair Stevens; Janet E Ulm; Dorothy Warburton; Louise E Wilkins-Haug; Naomi Yachelevich; James F Gusella; Michael E Talkowski; Cynthia C Morton
Journal: Am J Hum Genet Date: 2016-10-13 Impact factor: 11.025

3. Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Authors: Christina Halgren; Nete M Nielsen; Lusine Nazaryan-Petersen; Asli Silahtaroglu; Ryan L Collins; Chelsea Lowther; Susanne Kjaergaard; Morten Frisch; Maria Kirchhoff; Karen Brøndum-Nielsen; Allan Lind-Thomsen; Yuan Mang; Zahra El-Schich; Claire A Boring; Mana M Mehrjouy; Peter K A Jensen; Christina Fagerberg; Lotte N Krogh; Jan Hansen; Thue Bryndorf; Claus Hansen; Michael E Talkowski; Mads Bak; Niels Tommerup; Iben Bache
Journal: Am J Hum Genet Date: 2018-05-24 Impact factor: 11.025

Review 4. Chromothripsis, a credible chromosomal mechanism in evolutionary process.

Authors: Franck Pellestor; Vincent Gatinois
Journal: Chromosoma Date: 2018-08-07 Impact factor: 4.316

5. Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.

Authors: Mirjam S de Pagter; Markus J van Roosmalen; Annette F Baas; Ivo Renkens; Karen J Duran; Ellen van Binsbergen; Masoumeh Tavakoli-Yaraki; Ron Hochstenbach; Lars T van der Veken; Edwin Cuppen; Wigard P Kloosterman
Journal: Am J Hum Genet Date: 2015-03-19 Impact factor: 11.025

Review 6. Human Structural Variation: Mechanisms of Chromosome Rearrangements.

Authors: Brooke Weckselblatt; M Katharine Rudd
Journal: Trends Genet Date: 2015-07-22 Impact factor: 11.639

Review 7. Chromosomal instability in mammalian pre-implantation embryos: potential causes, detection methods, and clinical consequences.

Authors: Brittany L Daughtry; Shawn L Chavez
Journal: Cell Tissue Res Date: 2015-11-21 Impact factor: 5.249

8. Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.

Authors: Brooke Weckselblatt; Karen E Hermetz; M Katharine Rudd
Journal: Genome Res Date: 2015-06-12 Impact factor: 9.043

Review 9. The Human Genome Project, and recent advances in personalized genomics.

Authors: Brenda J Wilson; Stuart G Nicholls
Journal: Risk Manag Healthc Policy Date: 2015-02-16

10. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

Authors: Ryan L Collins; Harrison Brand; Claire E Redin; Carrie Hanscom; Caroline Antolik; Matthew R Stone; Joseph T Glessner; Tamara Mason; Giulia Pregno; Naghmeh Dorrani; Giorgia Mandrile; Daniela Giachino; Danielle Perrin; Cole Walsh; Michelle Cipicchio; Maura Costello; Alexei Stortchevoi; Joon-Yong An; Benjamin B Currall; Catarina M Seabra; Ashok Ragavendran; Lauren Margolin; Julian A Martinez-Agosto; Diane Lucente; Brynn Levy; Stephan J Sanders; Ronald J Wapner; Fabiola Quintero-Rivera; Wigard Kloosterman; Michael E Talkowski
Journal: Genome Biol Date: 2017-03-06 Impact factor: 13.583