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Sarah Elsea

Research Profile

Anatomy

Chromosomes, Human, Pair 17

Disorders

Physiology

Chemicals & Drugs

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Molecular Sequence Data

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Mouse

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Amino Acid Sequences

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Publications

TOP 3
M S Moshier; J L Silberg; T P York; Sarah H Elsea
Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits.
Benjamin Morris; Sandrine Reynaud-Perrine; Catherine Yardin; Sylvie Bourthoumieu; Cécile Etoubleau; Cécile Laroche; Aziza Lebbar; Sarah H Elsea
Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.
Stephen R Williams; Deborah Zies; Michael S Grotewiel; Sureni V Mullegama; Sarah H Elsea
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.

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All Publications

2012: M S Moshier; J L Silberg; T P York; Sarah H Elsea
Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits.
Journal of intellectual disability research : JIDR 2012;56(10):996-1007.
2012: Benjamin Morris; Sandrine Reynaud-Perrine; Catherine Yardin; Sylvie Bourthoumieu; Cécile Etoubleau; Cécile Laroche; Aziza Lebbar; Sarah H Elsea
Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.
American journal of medical genetics. Part A 2012;158A(8):2015-20.
2012: Stephen R Williams; Deborah Zies; Michael S Grotewiel; Sureni V Mullegama; Sarah H Elsea
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 2012;90(6):941-9.
2012: Brian H Y Chung; Lucie Dupuis; Sarah H Elsea; Chumei Li; Anath C Lionel; Christian R Marshall; Sureni Mullegama; Stephen W Scherer; D James Stavropoulos; Rosanna Weksberg; Swaroop Aradhya; Lauren Brick; Roberto Mendoza-Londono
Severe intellectual disability and autistic features associated with microduplication 2q23.1.
European journal of human genetics : EJHG 2012;20(4):398-403.
2012: Melanie Lacaria; James R Lupski; Lorraine Potocki; Pradip Saha; Katherina Walz; Jiong Yan; Weimin Bi; Brooke Burns; Lawrence Chan; Sarah H Elsea; Santhosh Girirajan; Wenli Gu
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.
PLoS genetics 2012;8(5):e1002713.
2011: Michael E Talkowski; Devon Lamb Thrush; Margot I Van Allen; Bregje W M van Bon; Charles A Williams; Bai-Lin Wu; Lilei Zhang; Lesley C Ades; Yu An; Caroline Astbury; Dennis Bartholomew; Louise A Brueton; Colby Chiang; Bert B A de Vries; Carl Ernst; Marco Fichera; Julie M Gastier-Foster; James Gusella; Carrie Hanscom; Jeffrey W Innis; Sekar Kathiresan; Klaske D Lichtenbelt; Amelia M Lindgren; Cynthia C Morton; Sureni V Mullegama; Aditi Parikh; Robert E Pyatt; Elena A Repnikova; Corrado Romano; Jill A Rosenfeld; Douglas M Ruderfer; Stuart Schwartz; Lisa G Shaffer; Yiping Shen; Sarah H Elsea
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
American journal of human genetics 2011;89(4):551-63.
2011: Sarah H Elsea; Stephen R Williams
Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
Expert reviews in molecular medicine 2011;13():e14.
2010: Brooke Burns; Kristie Schmidt; Stephen R Williams; Sun Kim; Santhosh Girirajan; Sarah H Elsea
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 2010;19(20):4026-42.
2010: Stephen R Williams; Micheala A Aldred; Vazken M Der Kaloustian; Fahed Halal; Gordon Gowans; D Ross McLeod; Sara Zondag; Helga V Toriello; R Ellen Magenis; Sarah H Elsea
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
American journal of human genetics 2010;87(2):219-28.
2010: Rebecca H Foster; Stephanie Kozachek; Marilyn Stern; Sarah H Elsea
Caring for the caregivers: an investigation of factors related to well-being among parents caring for a child with Smith-Magenis syndrome.
Journal of genetic counseling 2010;19(2):187-98.
2010: Stephen R Williams; Sureni V Mullegama; Jill A Rosenfeld; Aditi I Dagli; Eli Hatchwell; William P Allen; Charles A Williams; Sarah H Elsea
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
European journal of human genetics : EJHG 2010;18(4):436-41.
2010: Stephen R Williams; Santhosh Girirajan; David Tegay; Norma Nowak; Eli Hatchwell; Sarah H Elsea
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 2010;47(4):223-9.
2010: Hoa T Truong; Tracy Dudding; Christopher L Blanchard; Sarah H Elsea
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.
BMC medical genetics 2010;11():142.
2009: Santhosh Girirajan; Sarah H Elsea
Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice.
European journal of medical genetics 2009;52(4):224-8.
2009: Santhosh Girirajan; Sarah H Elsea
Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice.
Mammalian genome : official journal of the International Mammalian Genome Society 2009;20(4):247-55.
2009: Santhosh Girirajan; H T Truong; C L Blanchard; Sarah H Elsea
A functional network module for Smith-Magenis syndrome.
Clinical genetics 2009;75(4):364-74.
2008: Santhosh Girirajan; Nisha Patel; Rebecca E Slager; Mary E Tokarz; Maja Bucan; Jenny L Wiley; Sarah H Elsea
How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
European journal of human genetics : EJHG 2008;16(8):941-54.
2008: Santhosh Girirajan; Paula M Hauck; Stephen Williams; Christopher N Vlangos; Barbara B Szomju; Sara Solaymani-Kohal; Philip D Mosier; Kimber L White; Kathleen McCoy; Sarah H Elsea
Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.
Mammalian genome : official journal of the International Mammalian Genome Society 2008;19(4):246-62.
2008: Sarah H Elsea; Santhosh Girirajan
Smith-Magenis syndrome.
European journal of human genetics : EJHG 2008;16(4):412-21.
2008: Hoa T Truong; Sara Solaymani-Kohal; Kevin R Baker; Santhosh Girirajan; Stephen R Williams; Christopher N Vlangos; Ann C M Smith; David J Bunyan; Paul E Roffey; Christopher L Blanchard; Sarah H Elsea
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.
Genetic testing 2008;12(1):67-73.
2008: Alisa Nakamine; Leonid Ouchanov; Patricia Jiménez; Elina R Manghi; Marcela Esquivel; Silvia Monge; Marietha Fallas; Barbara K Burton; Barbara Szomju; Sarah H Elsea; Christian R Marshall; Stephen W Scherer; L Alison McInnes
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
American journal of medical genetics. Part A 2008;146A(5):636-43.
2007: Santhosh Girirajan; S R Williams; James Y Garbern; N Nowak; Eli Hatchwell; Sarah H Elsea
17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
Clinical genetics 2007;72(1):47-58.
2007: E A Edelman; Santhosh Girirajan; Brenda Finucane; Pragna I Patel; James R Lupski; A C M Smith; Sarah H Elsea
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
Clinical genetics 2007;71(6):540-50.
2007: Santhosh Girirajan; Roberto Mendoza-Londono; Christopher N Vlangos; Lucie Dupuis; Norma J Nowak; David J Bunyan; Eli Hatchwell; Sarah H Elsea
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).
American journal of medical genetics. Part A 2007;143A(9):999-1008.
2007: Andrea Gropman; Sarah H Elsea; Wallace C Duncan; Ann C M Smith
New developments in Smith-Magenis syndrome (del 17p11.2).
Current opinion in neurology 2007;20(2):125-34.
2006: Weimin Bi; Gulam Mustafa Saifi; Santhosh Girirajan; Xin Shi; Barbara Szomju; Helen Firth; R Ellen Magenis; Lorraine Potocki; Sarah H Elsea; James R Lupski
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
American journal of medical genetics. Part A 2006;140(22):2454-63.
2006: Santhosh Girirajan; Christopher N Vlangos; Barbara B Szomju; Emily Edelman; Christopher D Trevors; Lucie Dupuis; Marjan M Nezarati; David J Bunyan; Sarah H Elsea
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(7):417-27.
2005: Santhosh Girirajan; Louis J Elsas; koenraad devriendt; Sarah H Elsea
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
Journal of medical genetics 2005;42(11):820-8.
2005: Santhosh Girirajan; Sarah H Elsea
Brachydactyly A1: new relatives for old families?
Journal of genetics 2005;84(2):95-8.
2005: Christopher N Vlangos; Meredith Wilson; Jan Blancato; Ann C M Smith; Sarah H Elsea
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.
American journal of medical genetics. Part A 2005;132A(3):278-82.
2005: Ann C M Smith; R Ellen Magenis; Sarah H Elsea
Overview of Smith-Magenis syndrome.
Journal of the Association of Genetic Technologists 2005;31(4):163-7.
2005: Elizabeth Barry; Teresa Derhammer; Sarah H Elsea
Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population.
Community genetics 2005;8(3):173-9.
2003: Christopher N Vlangos; Dwight K C Yim; Sarah H Elsea
Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
Molecular genetics and metabolism 2003;79(2):134-41.
2003: Rebecca E Slager; Tiffany Lynn Newton; Christopher N Vlangos; Brenda Finucane; Sarah H Elsea
Mutations in RAI1 associated with Smith-Magenis syndrome.
Nature genetics 2003;33(4):466-8.
2002: Ann C M Smith; Andrea Gropman; Joan E Bailey-Wilson; Ozlem Goker-Alpan; Sarah H Elsea; Jan Blancato; James R Lupski; Lorraine Potocki
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(3):118-25.
2002: Sarah H Elsea; Rebecca E Lucas
The mousetrap: what we can learn when the mouse model does not mimic the human disease.
ILAR journal / National Research Council, Institute of Laboratory Animal Resources 2002;43(2):66-79.
2001: Rebecca E Lucas; Christopher N Vlangos; P Das; Pragna I Patel; Sarah H Elsea
Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis.
European journal of human genetics : EJHG 2001;9(12):892-902.
2001: Michael C Frühwald; M Sue O'Dorisio; Zunyan Dai; Laura J Rush; Ralf Krahe; Dominic J Smiraglia; T Pietsch; Sarah H Elsea; Christoph Plass
Aberrant hypermethylation of the major breakpoint cluster region in 17p11.2 in medulloblastomas but not supratentorial PNETs.
Genes, chromosomes & cancer 2001;30(1):38-47.
2000: Sarah H Elsea; V Leykam
HFE polymorphism and accurate diagnosis of C282Y hereditary hemochromatosis carriers.
Blood 2000;95(7):2453-5.
2000: Christopher N Vlangos; P Das; Pragna I Patel; Sarah H Elsea
Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval.
Cytogenetics and cell genetics 2000;88(3-4):283-5.
1999: Sarah H Elsea; K Mykytyn; K Ferrell; K L Coulter; P Das; Wolfgang Dubiel; Pragna I Patel; J E Metherall
Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome.
American journal of medical genetics 1999;87(4):342-8.
1999: Sarah H Elsea; IB Clark; RC Juyal; david Meyer; David I Meyer; Pragna I Patel
Assignment of beta-centractin (CTRN2) to human chromosome 2 bands q11.1-->q11.2 with somatic cell hybrids and in situ hybridization.
Cytogenetics and cell genetics 1999;84(1-2):48-9.
1998: Duxin Sun; Maeve McDonnell; Xin-Sheng Chen; MM Lakkis; Hui Li; Stuart N Isaacs; Sarah H Elsea; Pragna I Patel; Colin D Funk
Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment.
The Journal of biological chemistry 1998;273(50):33540-7.
1998: Sarah H Elsea; Eberhard Fritz; R Schoener-Scott; M Stephen Meyn; Pragna I Patel
Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity.
American journal of medical genetics 1998;75(1):104-8.
1998: Duxin Sun; Sarah H Elsea; Pragna I Patel; Colin D Funk
Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13.
Cytogenetics and cell genetics 1998;81(1):79-82.
1997: Eberhard Fritz; Sarah H Elsea; Pragna I Patel; M Stephen Meyn
Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(9):4538-42.
1997: Sarah H Elsea; M Westergaard; D Andrew Burden; J P Lomenick; Neil Osheroff
Quinolones share a common interaction domain on topoisomerase II with other DNA cleavage-enhancing antineoplastic drugs.
Biochemistry 1997;36(10):2919-24.
1997: Sarah H Elsea; Smita M Purandare; R A Adell; RC Juyal; J G Davis; Brenda Finucane; R Ellen Magenis; Pragna I Patel
Definition of the critical interval for Smith-Magenis syndrome.
Cytogenetics and cell genetics 1997;79(3-4):276-81.
1996: R C Juyal; Luis Figuera; X Hauge; Sarah H Elsea; James R Lupski; F Greenberg; Antonio Baldini; Pragna I Patel
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
American journal of human genetics 1996;58(5):998-1007.
1995: Sarah H Elsea; R C Juyal; S Jiralerspong; B M Finucane; Massimo Pandolfo; F Greenberg; Antonio Baldini; P Stover; Pragna I Patel
Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.
American journal of human genetics 1995;57(6):1342-50.
1995: S J Froelich-Ammon; D Andrew Burden; M W Patchan; Sarah H Elsea; Richard B Thompson; Neil Osheroff
Increased drug affinity as the mechanistic basis for drug hypersensitivity of a mutant type II topoisomerase.
The Journal of biological chemistry 1995;270(47):28018-21.
1995: Y Hsiung; Sarah H Elsea; Neil Osheroff; John L. Nitiss
A mutation in yeast TOP2 homologous to a quinolone-resistant mutation in bacteria. Mutation of the amino acid homologous to Ser83 of Escherichia coli gyrA alters sensitivity to eukaryotic topoisomerase inhibitors.
The Journal of biological chemistry 1995;270(35):20359-64.
1995: Sarah H Elsea; Y Hsiung; John L. Nitiss; Neil Osheroff
A yeast type II topoisomerase selected for resistance to quinolones. Mutation of histidine 1012 to tyrosine confers resistance to nonintercalative drugs but hypersensitivity to ellipticine.
The Journal of biological chemistry 1995;270(4):1913-20.
1994: M D Linnik; B T Butler; Sarah H Elsea; N K Ahmed
Analysis of neurogenic contractions induced by ML-1035 and other benzamides in the guinea-pig non-stimulated isolated ileum.
The Journal of pharmacy and pharmacology 1994;46(6):491-6.
1994: Neil Osheroff; Anita H Corbett; Sarah H Elsea; M Westergaard
Defining functional drug-interaction domains on topoisomerase II by exploiting mechanistic differences between drug classes.
Cancer chemotherapy and pharmacology 1994;34 Suppl():S19-25.
1993: Sarah H Elsea; P R McGuirk; Thomas D Gootz; M Moynihan; Neil Osheroff
Drug features that contribute to the activity of quinolones against mammalian topoisomerase II and cultured cells: correlation between enhancement of enzyme-mediated DNA cleavage in vitro and cytotoxic potential.
Antimicrobial agents and chemotherapy 1993;37(10):2179-86.
1992: Sarah H Elsea; Neil Osheroff; John L. Nitiss
Cytotoxicity of quinolones toward eukaryotic cells. Identification of topoisomerase II as the primary cellular target for the quinolone CP-115,953 in yeast.
The Journal of biological chemistry 1992;267(19):13150-3.
1992: B S Kuo; W F Kusmik; J C Poole; Sarah H Elsea; J Chang; K K Hwang
Pharmacokinetic evaluation of two human epidermal growth factors (hEGF51 and hEGF53) in rats.
Drug metabolism and disposition: the biological fate of chemicals 1992;20(1):23-30.