Chen CF - Search Results

1

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.

Stallworth JL, Dy ME, Buchanan CB, Chen CF, Scott AE, Glaze DG, Lane JB, Lieberman DN, Oberman LM, Skinner SA, Tierney AE, Cutter GR, Percy AK, Neul JL, Kaufmann WE. Stallworth JL, et al. Among authors: chen cf. Neurology. 2019 May 28;92(22):e2594-e2603. doi: 10.1212/WNL.0000000000007560. Epub 2019 May 3. Neurology. 2019. PMID: 31053667 Free PMC article. Clinical Trial.

2

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).

Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS. Sarasua SM, et al. Among authors: chen cf. J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7. J Med Genet. 2011. PMID: 21984749

3

Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.

Sarasua SM, Boccuto L, Sharp JL, Dwivedi A, Chen CF, Rollins JD, Rogers RC, Phelan K, DuPont BR. Sarasua SM, et al. Among authors: chen cf. Hum Genet. 2014 Jul;133(7):847-59. doi: 10.1007/s00439-014-1423-7. Epub 2014 Jan 31. Hum Genet. 2014. PMID: 24481935

4

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.

Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, Petukh M, Pittman A, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE. Boccuto L, et al. Among authors: chen cf. Hum Mol Genet. 2014 Jan 15;23(2):418-33. doi: 10.1093/hmg/ddt434. Epub 2013 Sep 10. Hum Mol Genet. 2014. PMID: 24026681 Free PMC article.

5

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.

Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, Collins JS, Rogers RC, Phelan K, DuPont BR. Sarasua SM, et al. Among authors: chen cf. Genet Med. 2014 Apr;16(4):318-28. doi: 10.1038/gim.2013.144. Epub 2013 Oct 17. Genet Med. 2014. PMID: 24136618 Free article.

6

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.

Cascio L, Chen CF, Pauly R, Srikanth S, Jones K, Skinner CD, Stevenson RE, Schwartz CE, Boccuto L. Cascio L, et al. Among authors: chen cf. Mol Genet Genomic Med. 2020 Jan;8(1):e1036. doi: 10.1002/mgg3.1036. Epub 2019 Nov 7. Mol Genet Genomic Med. 2020. PMID: 31701662 Free PMC article.

7

A healthy lifestyle index is associated with reduced risk of colorectal adenomatous polyps among non-users of non-steroidal anti-inflammatory drugs.

Tabung FK, Steck SE, Burch JB, Chen CF, Zhang H, Hurley TG, Cavicchia P, Alexander M, Shivappa N, Creek KE, Lloyd SC, Hebert JR. Tabung FK, et al. Among authors: chen cf. J Prim Prev. 2015 Feb;36(1):21-31. doi: 10.1007/s10935-014-0372-1. J Prim Prev. 2015. PMID: 25331980 Free PMC article.

8

Case-control study of the PERIOD3 clock gene length polymorphism and colorectal adenoma formation.

Alexander M, Burch JB, Steck SE, Chen CF, Hurley TG, Cavicchia P, Ray M, Shivappa N, Guess J, Zhang H, Youngstedt SD, Creek KE, Lloyd S, Yang X, Hébert JR. Alexander M, et al. Among authors: chen cf. Oncol Rep. 2015 Feb;33(2):935-41. doi: 10.3892/or.2014.3667. Epub 2014 Dec 11. Oncol Rep. 2015. PMID: 25501848 Free PMC article.

9

Decreased tryptophan metabolism in patients with autism spectrum disorders.

Boccuto L, Chen CF, Pittman AR, Skinner CD, McCartney HJ, Jones K, Bochner BR, Stevenson RE, Schwartz CE. Boccuto L, et al. Among authors: chen cf. Mol Autism. 2013 Jun 3;4(1):16. doi: 10.1186/2040-2392-4-16. Mol Autism. 2013. PMID: 23731516 Free PMC article.

10

MICO: A meta-tool for prediction of the effects of non-synonymous mutations.

Lee G, Chen CF. Lee G, et al. Among authors: chen cf. Bioinformation. 2014 Jul 22;10(7):469-71. doi: 10.6026/97320630010469. eCollection 2014. Bioinformation. 2014. PMID: 25187690 Free PMC article.

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