Williams SR - Search Results

1

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.

Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH. Williams SR, et al. Among authors: williams ca. Eur J Hum Genet. 2010 Apr;18(4):436-41. doi: 10.1038/ejhg.2009.199. Epub 2009 Nov 11. Eur J Hum Genet. 2010. PMID: 19904302 Free PMC article.

2

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.

Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH. Williams SR, et al. J Med Genet. 2010 Apr;47(4):223-9. doi: 10.1136/jmg.2009.068072. Epub 2009 Sep 14. J Med Genet. 2010. PMID: 19752160

3

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.

Burns B, Schmidt K, Williams SR, Kim S, Girirajan S, Elsea SH. Burns B, et al. Among authors: williams sr. Hum Mol Genet. 2010 Oct 15;19(20):4026-42. doi: 10.1093/hmg/ddq317. Epub 2010 Jul 27. Hum Mol Genet. 2010. PMID: 20663924 Free PMC article.

4

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH. Williams SR, et al. Am J Hum Genet. 2010 Aug 13;87(2):219-28. doi: 10.1016/j.ajhg.2010.07.011. Am J Hum Genet. 2010. PMID: 20691407 Free PMC article.

5

Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.

Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH. Williams SR, et al. Am J Hum Genet. 2012 Jun 8;90(6):941-9. doi: 10.1016/j.ajhg.2012.04.013. Epub 2012 May 10. Am J Hum Genet. 2012. PMID: 22578325 Free PMC article.

6

Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.

Elsea SH, Williams SR. Elsea SH, et al. Among authors: williams sr. Expert Rev Mol Med. 2011 Apr 19;13:e14. doi: 10.1017/S1462399411001827. Expert Rev Mol Med. 2011. PMID: 21545756 Review.

7

Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.

Le TN, Williams SR, Alaimo JT, Elsea SH. Le TN, et al. Among authors: williams sr. Am J Med Genet A. 2019 May;179(5):782-791. doi: 10.1002/ajmg.a.61089. Epub 2019 Mar 7. Am J Med Genet A. 2019. PMID: 30848064 Review.

8

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.

Mullegama SV, Klein SD, Williams SR, Innis JW, Probst FJ, Haldeman-Englert C, Martinez-Agosto JA, Yang Y, Tian Y, Elsea SH, Ezashi T. Mullegama SV, et al. Among authors: williams sr. Sci Rep. 2021 May 28;11(1):11295. doi: 10.1038/s41598-021-90798-z. Sci Rep. 2021. PMID: 34050248 Free PMC article.

9

Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.

Truong HT, Solaymani-Kohal S, Baker KR, Girirajan S, Williams SR, Vlangos CN, Smith AC, Bunyan DJ, Roffey PE, Blanchard CL, Elsea SH. Truong HT, et al. Among authors: williams sr. Genet Test. 2008 Mar;12(1):67-73. doi: 10.1089/gte.2007.0058. Genet Test. 2008. PMID: 18373405

10

Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.

Girirajan S, Hauck PM, Williams S, Vlangos CN, Szomju BB, Solaymani-Kohal S, Mosier PD, White KL Jr, McCoy K, Elsea SH. Girirajan S, et al. Mamm Genome. 2008 Apr;19(4):246-62. doi: 10.1007/s00335-008-9100-6. Epub 2008 Mar 15. Mamm Genome. 2008. PMID: 18343975

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