Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping-Reference-Cited by-同舟云学术

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Published:2016-01-04 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Watson Christopher M.^ORCID,Crinnion Laura A.,Berry Ian R.,Harrison Sally M.,Lascelles Carolina,Antanaviciute Agne,Charlton Ruth S.,Dobbie Angus,Carr Ian M.,Bonthron David T.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-015-0265-z

Reference35 articles.

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2. Praveen K, Davis EE, Katsanis N. Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder. F1000 Prime Rep. 2015;7:36.

3. Szymanska K, Hartill VL, Johnson CA. Unraveling the genetics of Joubert and Meckel-Gruber syndromes. J Pediatr Genet. 2014;3:65–78.

4. Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 2013;12:894–905.

5. Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, et al. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet. 2006;38:155–7.

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