Skinner C - Search Results

1

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.

Aref-Eshghi E, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Rodenhiser D, Schwartz C, Sadikovic B. Aref-Eshghi E, et al. Among authors: skinner c. Epigenetics. 2017;12(11):923-933. doi: 10.1080/15592294.2017.1381807. Epub 2017 Nov 7. Epigenetics. 2017. PMID: 28933623 Free PMC article.

2

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

Cason AL, Ikeguchi Y, Skinner C, Wood TC, Holden KR, Lubs HA, Martinez F, Simensen RJ, Stevenson RE, Pegg AE, Schwartz CE. Cason AL, et al. Among authors: skinner c. Eur J Hum Genet. 2003 Dec;11(12):937-44. doi: 10.1038/sj.ejhg.5201072. Eur J Hum Genet. 2003. PMID: 14508504

3

High frequency of neurexin 1beta signal peptide structural variants in patients with autism.

Feng J, Schroer R, Yan J, Song W, Yang C, Bockholt A, Cook EH Jr, Skinner C, Schwartz CE, Sommer SS. Feng J, et al. Among authors: skinner c. Neurosci Lett. 2006 Nov 27;409(1):10-3. doi: 10.1016/j.neulet.2006.08.017. Epub 2006 Oct 10. Neurosci Lett. 2006. PMID: 17034946

4

Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males.

Stevenson RE, Brasington CK, Skinner C, Simensen RJ, Spence JE, Kesler S, Reiss AL, Schwartz CE. Stevenson RE, et al. Among authors: skinner c. Am J Med Genet A. 2007 Oct 1;143A(19):2321-9. doi: 10.1002/ajmg.a.31928. Am J Med Genet A. 2007. PMID: 17853486 Free PMC article.

5

Neurexin 1alpha structural variants associated with autism.

Yan J, Noltner K, Feng J, Li W, Schroer R, Skinner C, Zeng W, Schwartz CE, Sommer SS. Yan J, et al. Among authors: skinner c. Neurosci Lett. 2008 Jun 27;438(3):368-70. doi: 10.1016/j.neulet.2008.04.074. Epub 2008 Apr 25. Neurosci Lett. 2008. PMID: 18490107

6

Analysis of the neuroligin 4Y gene in patients with autism.

Yan J, Feng J, Schroer R, Li W, Skinner C, Schwartz CE, Cook EH Jr, Sommer SS. Yan J, et al. Among authors: skinner c. Psychiatr Genet. 2008 Aug;18(4):204-7. doi: 10.1097/YPG.0b013e3282fb7fe6. Psychiatr Genet. 2008. PMID: 18628683

7

Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders.

Jones JR, Skinner C, Friez MJ, Schwartz CE, Stevenson RE. Jones JR, et al. Among authors: skinner c. Am J Med Genet A. 2008 Sep 1;146A(17):2213-20. doi: 10.1002/ajmg.a.32396. Am J Med Genet A. 2008. PMID: 18698615 Review.

8

Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.

Jackson PB, Boccuto L, Skinner C, Collins JS, Neri G, Gurrieri F, Schwartz CE. Jackson PB, et al. Among authors: skinner c. Autism Res. 2009 Aug;2(4):232-6. doi: 10.1002/aur.87. Autism Res. 2009. PMID: 19681062

9

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G, Smith R, Futreal PA, Shaw M, Boyle J, Licata A, Skinner C, Stevenson RE, Turner G, Field M, Hackett A, Schwartz CE, Gecz J, Stratton MR, Raymond FL. Whibley AC, et al. Among authors: skinner c. Am J Hum Genet. 2010 Aug 13;87(2):173-88. doi: 10.1016/j.ajhg.2010.06.017. Epub 2010 Jul 22. Am J Hum Genet. 2010. PMID: 20655035 Free PMC article.

10

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.

Franek KJ, Butler J, Johnson J, Simensen R, Friez MJ, Bartel F, Moss T, DuPont B, Berry K, Bauman M, Skinner C, Stevenson RE, Schwartz CE. Franek KJ, et al. Among authors: skinner c. Am J Med Genet A. 2011 May;155A(5):1109-14. doi: 10.1002/ajmg.a.33833. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484992

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