Stephen R Williams
Affiliations: | Human Genetics | Virginia Commonwealth University School of Medicine, Richmond, VA |
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"Stephen Williams"
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| Mullegama SV, Klein SD, Williams SR, et al. (2021) Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes. Scientific Reports. 11: 11295 |
| Le TN, Williams SR, Alaimo JT, et al. (2019) Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor. American Journal of Medical Genetics. Part A |
| Williams SR, Zies D, Mullegama SV, et al. (2012) Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. American Journal of Human Genetics. 90: 941-9 |
| Elsea SH, Williams SR. (2011) Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways. Expert Reviews in Molecular Medicine. 13: e14 |
| Williams SR, Aldred MA, Der Kaloustian VM, et al. (2010) Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. American Journal of Human Genetics. 87: 219-28 |
| Burns B, Schmidt K, Williams SR, et al. (2010) Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome. Human Molecular Genetics. 19: 4026-42 |
| Williams SR, Mullegama SV, Rosenfeld JA, et al. (2010) Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. European Journal of Human Genetics : Ejhg. 18: 436-41 |
| Williams SR, Girirajan S, Tegay D, et al. (2010) 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. Journal of Medical Genetics. 47: 223-9 |
| Truong HT, Solaymani-Kohal S, Baker KR, et al. (2008) Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. Genetic Testing. 12: 67-73 |
| Girirajan S, Hauck PM, Williams S, et al. (2008) Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 19: 246-62 |