Ondo Y - Search Results

1

Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.

Lu Y, Chong PF, Kira R, Seto T, Ondo Y, Shimojima K, Yamamoto T. Lu Y, et al. Among authors: ondo y. J Pediatr Genet. 2017 Dec;6(4):234-237. doi: 10.1055/s-0037-1603194. Epub 2017 May 16. J Pediatr Genet. 2017. PMID: 29142766 Free PMC article.

2

Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.

Yamamoto T, Shimojima K, Ondo Y, Imai K, Chong PF, Kira R, Amemiya M, Saito A, Okamoto N. Yamamoto T, et al. Among authors: ondo y. Hum Genome Var. 2016 Aug 18;3:16025. doi: 10.1038/hgv.2016.25. eCollection 2016. Hum Genome Var. 2016. PMID: 27579173 Free PMC article.

3

Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.

Shimojima K, Ondo Y, Matsufuji M, Sano N, Tsuru H, Oyoshi T, Higa N, Tokimura H, Arita K, Yamamoto T. Shimojima K, et al. Among authors: ondo y. Eur J Med Genet. 2016 Nov;59(11):559-563. doi: 10.1016/j.ejmg.2016.10.006. Epub 2016 Oct 14. Eur J Med Genet. 2016. PMID: 27751966

4

Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome.

Shimojima K, Ondo Y, Nishi E, Mizuno S, Ito M, Ioi A, Shimizu M, Sato M, Inoue M, Okamoto N, Yamamoto T. Shimojima K, et al. Among authors: ondo y. Hum Genome Var. 2016 Oct 13;3:16033. doi: 10.1038/hgv.2016.33. eCollection 2016. Hum Genome Var. 2016. PMID: 27790374 Free PMC article.

5

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N. Yamamoto T, et al. Among authors: ondo y. Am J Med Genet A. 2017 May;173(5):1264-1269. doi: 10.1002/ajmg.a.38168. Epub 2017 Mar 29. Am J Med Genet A. 2017. PMID: 28371282

6

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.

Shimojima K, Okamoto N, Goel H, Ondo Y, Yamamoto T. Shimojima K, et al. Among authors: ondo y. Eur J Med Genet. 2017 Dec;60(12):650-654. doi: 10.1016/j.ejmg.2017.08.017. Epub 2017 Sep 9. Eur J Med Genet. 2017. PMID: 28899818

7

A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.

Seto T, Hamazaki T, Nishigaki S, Kudo S, Shintaku H, Ondo Y, Shimojima K, Yamamoto T. Seto T, et al. Among authors: ondo y. Intractable Rare Dis Res. 2017 Aug;6(3):177-182. doi: 10.5582/irdr.2017.01031. Intractable Rare Dis Res. 2017. PMID: 28944139 Free PMC article.

8

A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene.

Sangu N, Okamoto N, Shimojima K, Ondo Y, Nishikawa M, Yamamoto T. Sangu N, et al. Among authors: ondo y. Hum Genome Var. 2016 May 19;3:16008. doi: 10.1038/hgv.2016.8. eCollection 2016. Hum Genome Var. 2016. PMID: 27274859 Free PMC article.

9

A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.

Shimojima K, Ondo Y, Okamoto N, Yamamoto T. Shimojima K, et al. Among authors: ondo y. Hum Genome Var. 2017 Jul 20;4:17029. doi: 10.1038/hgv.2017.29. eCollection 2017. Hum Genome Var. 2017. PMID: 28736618 Free PMC article.

10

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

Lu Y, Ondo Y, Shimojima K, Osaka H, Yamamoto T. Lu Y, et al. Among authors: ondo y. Hum Genome Var. 2017 Aug 3;4:17035. doi: 10.1038/hgv.2017.35. eCollection 2017. Hum Genome Var. 2017. PMID: 28791129 Free PMC article.

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