Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients-Reference-Cited by-同舟云学术

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Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients

Published:2017-03-11 Issue:3 Volume:18 Page:169-174
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Hsiao Meng-Chang,Piotrowski Arkadiusz,Poplawski Andrzej Brunon,Callens Tom,Fu Chuanhua,Messiaen Ludwine

Funder

This work was supported through internal funds from the Medical Genomics Laboratory at the University of Alabama at Birmingham (UAB).

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10048-017-0512-x/fulltext.html

Reference24 articles.

1. Smith MJ, Urquhart JE, Harkness EF, Miles EK, Bowers NL, Byers HJ, Bulman M, Gokhale C, Wallace AJ, Newman WG, Evans DG (2016) The contribution of whole gene deletions and large rearrangements to the mutation spectrum in inherited tumor predisposing syndromes. Hum Mutat 37(3):250–256. doi: 10.1002/humu.22938

2. Carvalho CM, Lupski JR (2016) Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. doi: 10.1038/nrg.2015.25

3. Imbard A, Pasmant E, Sabbagh A, Luscan A, Soares M, Goussard P, Blanche H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanne-Chantelot C, Vidaud D, Wolkenstein P, the members of the NFFN, Parfait B (2015) NF1 single and multi-exons copy number variations in neurofibromatosis type 1. J Hum Genet. doi: 10.1038/jhg.2015.6

4. Hsiao MC, Piotrowski A, Callens T, Fu C, Wimmer K, Claes KB, Messiaen L (2015) Decoding NF1 intragenic copy-number variations. Am J Hum Genet. doi: 10.1016/j.ajhg.2015.06.002

5. Kehrer-Sawatzki H, Bengesser K, Callens T, Mikhail F, Fu C, Hillmer M, Walker ME, Saal HM, Lacassie Y, Cooper DN, Messiaen L (2014) Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions. Hum Mutat 35(12):1469–1475. doi: 10.1002/humu.22692

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