The diagnostic utility of exome sequencing in Joubert syndrome and related disorders-Reference-Cited by-同舟云学术

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The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

Published:2012-10-04 Issue:2 Volume:58 Page:113-115
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Tsurusaki Yoshinori,Kobayashi Yasuko,Hisano Masataka,Ito Shuichi,Doi Hiroshi,Nakashima Mitsuko,Saitsu Hirotomo,Matsumoto Naomichi,Miyake Noriko

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg2012117.pdf

Reference19 articles.

1. Brancati, F., Dallapiccola, B. & Valente, E. M. Joubert Syndrome and related disorders. Orphanet. J. Rare Dis. 5, 20 (2010).

2. Bielas, S. L., Silhavy, J. L., Brancati, F., Kisseleva, M. V., Al-Gazali, L., Sztriha, L. et al. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat. Genet. 41, 1032–1036 (2009).

3. Valente, E. M., Logan, C. V., Mougou-Zerelli, S., Lee, J. H., Silhavy, J. L., Brancati, F. et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat. Genet. 42, 619–625 (2010).

4. Ferland, R. J., Eyaid, W., Collura, R. V., Tully, L. D., Hill, R. S., Al-Nouri, D. et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat. Genet. 36, 1008–1013 (2004).

5. Parisi, M. A., Bennett, C. L., Eckert, M. L., Dobyns, W. B., Gleeson, J. G., Shaw, D. W. et al. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am. J. Hum. Genet. 75, 82–91 (2004).

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3. Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD;npj Genomic Medicine;2021-06-29

4. Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome;2020-08-26

5. Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report;BMC Medical Genetics;2020-01-30

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