Sarah Elsea

Summary

Affiliation: Virginia Commonwealth University
Country: USA

Publications

  1. ncbi request reprint Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2)
    Ann C M Smith
    Medical Genetics Branch, National Human Genome Research Institute, NIH, Bldg 10, Room 10C103, 10 Center Drive, MSC 1875, Bethesda, MD 20892 1875, USA
    Genet Med 4:118-25. 2002
  2. ncbi request reprint Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)
    Santhosh Girirajan
    Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA
    Am J Med Genet A 143:999-1008. 2007
  3. doi request reprint Smith-Magenis syndrome
    Sarah H Elsea
    Department of Pediatrics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA
    Eur J Hum Genet 16:412-21. 2008
  4. doi request reprint Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways
    Sarah H Elsea
    Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA
    Expert Rev Mol Med 13:e14. 2011
  5. pmc Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature
    Hoa T Truong
    School of Biomedical Sciences, Charles Sturt University, Wagga Wagga, NSW, Australia
    BMC Med Genet 11:142. 2010
  6. ncbi request reprint Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
    Santhosh Girirajan
    Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, Virginia 23298, USA
    Genet Med 8:417-27. 2006
  7. doi request reprint How much is too much? Phenotypic consequences of Rai1 overexpression in mice
    Santhosh Girirajan
    Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA
    Eur J Hum Genet 16:941-54. 2008
  8. pmc Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems
    Stephen R Williams
    Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA
    Am J Hum Genet 87:219-28. 2010
  9. doi request reprint Caring for the caregivers: an investigation of factors related to well-being among parents caring for a child with Smith-Magenis syndrome
    Rebecca H Foster
    Department of Psychology, Virginia Commonwealth University, Richmond, VA, USA
    J Genet Couns 19:187-98. 2010
  10. doi request reprint Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice
    Santhosh Girirajan
    Department of Pediatrics, Virginia Commonwealth University, Richmond, VA 23298, USA
    Eur J Med Genet 52:224-8. 2009

Research Grants

  1. Molecular Analysis of del(17)(p11.2)
    Sarah Elsea; Fiscal Year: 2005

Collaborators

  • Weimin Bi
  • Andrea L Gropman
  • Charles A Williams
  • H V Toriello
  • Santhosh Girirajan
  • Stephen R Williams
  • Christopher N Vlangos
  • Hoa T Truong
  • Eli Hatchwell
  • Ann C M Smith
  • David J Bunyan
  • Rebecca E Slager
  • Rebecca H Foster
  • Christopher L Blanchard
  • Lucie Dupuis
  • Jan Blancato
  • R Ellen Magenis
  • Stephanie Kozachek
  • Gordon Gowans
  • Marilyn Stern
  • Aditi I Dagli
  • Norma Nowak
  • William P Allen
  • Fahed Halal
  • Micheala A Aldred
  • Sara Zondag
  • D Ross McLeod
  • David Tegay
  • Tracy Dudding
  • Jill A Rosenfeld
  • Sureni V Mullegama
  • Vazken M Der Kaloustian
  • Mary E Tokarz
  • Kevin R Baker
  • Jenny L Wiley
  • Maja Bucan
  • Paul E Roffey
  • Nisha Patel
  • Sara Solaymani-Kohal
  • Norma J Nowak
  • Roberto Mendoza-Londono
  • Marjan Nezarati
  • Christopher D Trevors
  • Barbara B Szomju
  • Emily Edelman
  • Meredith Wilson
  • Dwight K C Yim
  • Brenda Finucane
  • Tiffany Lynn Newton
  • Joan E Bailey-Wilson
  • Ozlem Goker-Alpan
  • Lorraine Potocki
  • James R Lupski

Detail Information

Publications17

  1. ncbi request reprint Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2)
    Ann C M Smith
    Medical Genetics Branch, National Human Genome Research Institute, NIH, Bldg 10, Room 10C103, 10 Center Drive, MSC 1875, Bethesda, MD 20892 1875, USA
    Genet Med 4:118-25. 2002
    ..A systematic study of fasting lipid profiles of patients with SMS was conducted to determine the frequency of cholesterol abnormalities...
  2. ncbi request reprint Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)
    Santhosh Girirajan
    Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA
    Am J Med Genet A 143:999-1008. 2007
    ....
  3. doi request reprint Smith-Magenis syndrome
    Sarah H Elsea
    Department of Pediatrics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA
    Eur J Hum Genet 16:412-21. 2008
    ..Management of SMS is primarily a multidisciplinary approach and involves treatment for sleep disturbance, speech and occupational therapies, minor medical interventions, and management of behaviors...
  4. doi request reprint Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways
    Sarah H Elsea
    Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA
    Expert Rev Mol Med 13:e14. 2011
    ..Here, we review the clinical and molecular features of SMS and explore more recent studies supporting possible therapeutic strategies for behavioural management...
  5. pmc Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature
    Hoa T Truong
    School of Biomedical Sciences, Charles Sturt University, Wagga Wagga, NSW, Australia
    BMC Med Genet 11:142. 2010
    ..We expect that as more patients are sequenced for mutations in RAI1, the incidence of frameshift mutations in this hotspot will become more evident...
  6. ncbi request reprint Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
    Santhosh Girirajan
    Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, Virginia 23298, USA
    Genet Med 8:417-27. 2006
    ..We report the molecular and genotype-phenotype analyses of 31 patients with SMS who carry 17p11.2 deletions or mutations in the RAI1 gene...
  7. doi request reprint How much is too much? Phenotypic consequences of Rai1 overexpression in mice
    Santhosh Girirajan
    Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA
    Eur J Hum Genet 16:941-54. 2008
    ..2) syndrome or SMS in humans...
  8. pmc Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems
    Stephen R Williams
    Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA
    Am J Hum Genet 87:219-28. 2010
    ....
  9. doi request reprint Caring for the caregivers: an investigation of factors related to well-being among parents caring for a child with Smith-Magenis syndrome
    Rebecca H Foster
    Department of Psychology, Virginia Commonwealth University, Richmond, VA, USA
    J Genet Couns 19:187-98. 2010
    ..These data show that many factors play roles in influencing coping and well-being among SMS caregivers. Investigating these variables and relationships may reveal additional resources and interventions to assist primary caregivers...
  10. doi request reprint Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice
    Santhosh Girirajan
    Department of Pediatrics, Virginia Commonwealth University, Richmond, VA 23298, USA
    Eur J Med Genet 52:224-8. 2009
    ....
  11. pmc Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures
    Stephen R Williams
    Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA
    Eur J Hum Genet 18:436-41. 2010
    ..As all five previous cases and the two cases in this report share one common gene, MBD5, we strongly suspect that haploinsufficiency of MBD5 causes most of the features observed in this syndrome...
  12. doi request reprint 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
    Stephen R Williams
    Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, USA
    J Med Genet 47:223-9. 2010
    ..For this cohort, deletion and mutation analyses of RAI1 were negative; thus, the clinical diagnosis of SMS could not be confirmed and suggested that at least one other locus was responsible for the phenotype(s) observed...
  13. ncbi request reprint Mutations in RAI1 associated with Smith-Magenis syndrome
    Rebecca E Slager
    Genetics Graduate Program, S 320 Plant Biology Building, Michigan State University, East Lansing, Michigan 48823, USA
    Nat Genet 33:466-8. 2003
    ..2 deletions detectable by standard fluorescence in situ hybridization techniques...
  14. ncbi request reprint RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030 3498, USA
    Am J Med Genet A 140:2454-63. 2006
    ....
  15. doi request reprint Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR
    Hoa T Truong
    Faculty of Science, Charles Sturt University, Wagga Wagga, NSW, Australia
    Genet Test 12:67-73. 2008
    ..We conclude that Q-PCR is an accurate, reproducible, low-cost, and reliable assay that can be employed for routine use in SMS and dup17p11.2 diagnosis...
  16. ncbi request reprint Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
    Christopher N Vlangos
    Graduate Program in Genetics, Michigan State University, S 320 Plant Biology Building, 178 Wilson Road, East Lansing, MI 48824, USA
    Mol Genet Metab 79:134-41. 2003
    ..2 deletions naturally occur, showing evidence that homologous recombination likely takes place between low copy repeats at a higher frequency than previously reported...
  17. ncbi request reprint Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene
    Christopher N Vlangos
    Genetics Graduate Program, Michigan State University, East Lansing, Michigan, USA
    Am J Med Genet A 132:278-82. 2005
    ..We recommend that for diagnostic accuracy, all future FISH tests for SMS be performed with probes containing the RAI1 gene, as some atypical deletions in the region critical to the SMS phenotype will otherwise be missed...

Research Grants5

  1. Molecular Analysis of del(17)(p11.2)
    Sarah Elsea; Fiscal Year: 2005
    ..The work proposed here will lay the foundation on which the gene(s) responsible for SMS and other developmental process may be elucidated. ..