Collins JS - Search Results

1

Rollins JD, Sarasua SM, Phelan K, DuPont BR, Rogers RC, Collins JS. Rollins JD, et al. Among authors: collins js. Am J Med Genet A. 2011 Sep;155A(9):2324-6. doi: 10.1002/ajmg.a.34158. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834045 No abstract available.

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: collins js. 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

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: collins js. 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.

4

United States head circumference growth reference charts: birth to 21 years.

Rollins JD, Collins JS, Holden KR. Rollins JD, et al. Among authors: collins js. J Pediatr. 2010 Jun;156(6):907-913.e2. doi: 10.1016/j.jpeds.2010.01.009. Epub 2010 Mar 20. J Pediatr. 2010. PMID: 20304425

5

Prevalence of aneuploidies in South Carolina in the 1990s.

Collins JS, Olson RL, DuPont BR, Wolff DJ, Best RG, Stevenson RE. Collins JS, et al. Genet Med. 2002 May-Jun;4(3):131-5. doi: 10.1097/00125817-200205000-00006. Genet Med. 2002. PMID: 12180147 Free article.

6

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE. Boccuto L, et al. Among authors: collins js. Eur J Hum Genet. 2013 Mar;21(3):310-6. doi: 10.1038/ejhg.2012.175. Epub 2012 Aug 15. Eur J Hum Genet. 2013. PMID: 22892527 Free PMC article.

7

Evidence that SIZN1 is a candidate X-linked mental retardation gene.

Cho G, Bhat SS, Gao J, Collins JS, Rogers RC, Simensen RJ, Schwartz CE, Golden JA, Srivastava AK. Cho G, et al. Among authors: collins js. Am J Med Genet A. 2008 Oct 15;146A(20):2644-50. doi: 10.1002/ajmg.a.32472. Am J Med Genet A. 2008. PMID: 18798319 Free PMC article.

8

Effect of population stratification on the identification of significant single-nucleotide polymorphisms in genome-wide association studies.

Sarasua SM, Collins JS, Williamson DM, Satten GA, Allen AS. Sarasua SM, et al. Among authors: collins js. BMC Proc. 2009 Dec 15;3 Suppl 7(Suppl 7):S13. doi: 10.1186/1753-6561-3-s7-s13. BMC Proc. 2009. PMID: 20017996 Free PMC article.

9

Short-term memory deficits in carrier females with KDM5C mutations.

Simensen RJ, Rogers RC, Collins JS, Abidi F, Schwartz CE, Stevenson RE. Simensen RJ, et al. Among authors: collins js. Genet Couns. 2012;23(1):31-40. Genet Couns. 2012. PMID: 22611640

10

The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation.

Maghirang-Rodriguez R, Archie JG, Schwartz CE, Collins JS. Maghirang-Rodriguez R, et al. Among authors: collins js. Am J Med Genet A. 2009 Feb 15;149A(4):622-5. doi: 10.1002/ajmg.a.32721. Am J Med Genet A. 2009. PMID: 19267414

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