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SARAH H ELSEA

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
Address2450 Holcombe Blvd.
Houston TX 77021
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Stowe RC, Sun Q, Elsea SH, Scaglia F. LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. Am J Med Genet A. 2018 May; 176(5):1184-1189. PMID: 29681092.
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    2. Wangler MF, Hubert L, Donti TR, Ventura MJ, Miller MJ, Braverman N, Gawron K, Bose M, Moser AB, Jones RO, Rizzo WB, Sutton VR, Sun Q, Kennedy AD, Elsea SH. A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Genet Med. 2018 Feb 08. PMID: 29419819.
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    3. Sobering AK, Stevens JB, Smith JL, Nelson B, Donald T, Elsea SH. Genetic diagnosis of Down syndrome in an underserved community. Am J Med Genet A. 2018 Feb; 176(2):483-486. PMID: 29278455.
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    4. Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AW. Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Mol Genet Metab. 2018 Mar; 123(3):309-316. PMID: 29269105.
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    5. Cappuccio G, Pinelli M, Alagia M, Donti T, Day-Salvatore DL, Veggiotti P, De Giorgis V, Lunghi S, Vari MS, Striano P, Brunetti-Pierri N, Kennedy AD, Elsea SH. Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. PLoS One. 2017; 12(9):e0184022. PMID: 28961260.
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    6. Chen L, Jensik PJ, Alaimo JT, Walkiewicz M, Berger S, Roeder E, Faqeih EA, Bernstein JA, Smith ACM, Mullegama SV, Saffen DW, Elsea SH. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Hum Mutat. 2017 Dec; 38(12):1774-1785. PMID: 28940898.
      View in: PubMed
    7. Jiang Y, Almannai M, Sutton VR, Sun Q, Elsea SH. Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels. Mol Genet Metab. 2017 Nov; 122(3):39-45. PMID: 28888854.
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    8. Pappan KL, Kennedy AD, Magoulas PL, Hanchard NA, Sun Q, Elsea SH. Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations. Pediatr Neurol. 2017 Oct; 75:66-72. PMID: 28823629.
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    9. Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 Jun 24. PMID: 28673551.
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    10. Kennedy AD, Pappan KL, Donti TR, Evans AM, Wulff JE, Miller LAD, Reid Sutton V, Sun Q, Miller MJ, Elsea SH. Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay. Mol Genet Metab. 2017 Apr 09. PMID: 28412083.
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    11. Perkins T, Rosenberg JM, Le Coz C, Alaimo JT, Trofa M, Mullegama SV, Antaya RJ, Jyonouchi S, Elsea SH, Utz PJ, Meffre E, Romberg N. Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. J Allergy Clin Immunol Pract. 2017 Mar 09. PMID: 28286158.
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    12. Mullegama SV, Alaimo JT, Fountain MD, Burns B, Balog AH, Chen L, Elsea SH. RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome. J Pediatr Genet. 2017 Sep; 6(3):155-164. PMID: 28794907.
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    13. Jain M, Kennedy AD, Elsea SH, Miller MJ. Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies. Clin Chim Acta. 2017 Jan 06; 466:105-111. PMID: 28069401.
      View in: PubMed
    14. Cappuccio G, Atwal PS, Donti TR, Ugarte K, Merchant N, Craigen WJ, Sutton VR, Elsea SH. Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. JIMD Rep. 2016 Nov 30. PMID: 27900673.
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    15. Meng L, Donti T, Xia F, Niu Z, Al Shamsi A, Hertecant J, Al-Jasmi F, Gibson JB, Nagakura H, Zhang J, He W, Eng C, Yang Y, Elsea SH. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb; 173(2):460-470. PMID: 27860360.
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    16. Pankowicz FP, Barzi M, Legras X, Hubert L, Mi T, Tomolonis JA, Ravishankar M, Sun Q, Yang D, Borowiak M, Sumazin P, Elsea SH, Bissig-Choisat B, Bissig KD. Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia. Nat Commun. 2016; 7:12642. PMID: 27572891.
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    17. Mullegama SV, Elsea SH. Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). Eur J Hum Genet. 2016 Aug; 24(9):1376. PMID: 27514998.
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    18. Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Sep; 8:61-6. PMID: 27504266; PMCID: PMC4969260.
    19. Kennedy AD, Miller MJ, Beebe K, Wulff JE, Evans AM, Miller LA, Sutton VR, Sun Q, Elsea SH. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. Genet Test Mol Biomarkers. 2016 Sep; 20(9):485-95. PMID: 27448163.
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    20. Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet. 2016 Oct; 135(10):1161-74. PMID: 27386852; PMCID: PMC5021589 [Available on 10/01/17].
    21. Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2016 May 25. PMID: 27225280.
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    22. Mullegama SV, Elsea SH. Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). Eur J Hum Genet. 2016 Aug; 24(9):1235-43. PMID: 27222293.
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    23. Miller MJ, Bostwick BL, Kennedy AD, Donti TR, Sun Q, Sutton VR, Elsea SH. Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions. JIMD Rep. 2016 Mar 3. PMID: 26936850.
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    24. Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BH. Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb; 169:208-213.e2. PMID: 26602010.
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    25. Alaimo JT, Mullegama SV, Thomas MA, Elsea SH. Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis. Mol Cytogenet. 2015; 8:75. PMID: 26442755.
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    26. Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15; 24(22):6417-27. PMID: 26358771.
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    27. Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov; 116(3):139-45. PMID: 26385305.
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    28. Alaimo JT, Barton LV, Mullegama SV, Wills RD, Foster RH, Elsea SH. Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome. Res Dev Disabil. 2015 Dec; 47:27-38. PMID: 26323055.
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    29. Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation". Am J Med Genet A. 2015 Oct; 167A(10):2496. PMID: 26355286.
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    30. Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. Am J Med Genet A. 2015 Sep; 167A(9):2162-7. PMID: 25943046.
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    31. Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. Mol Genet Metab. 2015 Jun-Jul; 115(2-3):91-4. PMID: 25956449.
      View in: PubMed
    32. Mullegama SV, Alaimo JT, Chen L, Elsea SH. Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder. Int J Mol Sci. 2015; 16(4):7627-43. PMID: 25853262; PMCID: PMC4425039.
    33. Chen L, Mullegama SV, Alaimo JT, Elsea SH. Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. Dev Period Med. 2015 Apr-Jun; 19(2):149-56. PMID: 26384114.
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    34. Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30. PMID: 25781356; PMCID: PMC4422892.
    35. Veatch OJ, Pendergast JS, Allen MJ, Leu RM, Johnson CH, Elsea SH, Malow BA. Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay. J Autism Dev Disord. 2015 Jan; 45(1):100-10. PMID: 25059483; PMCID: PMC4289108.
    36. Mullegama SV, Elsea SH. Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression. Mol Cytogenet. 2014; 7(1):80. PMID: 25426169; PMCID: PMC4243375.
    37. Mullegama SV, Pugliesi L, Burns B, Shah Z, Tahir R, Gu Y, Nelson DL, Elsea SH. MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes. Eur J Hum Genet. 2015 Jun; 23(6):781-9. PMID: 25271084.
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    38. Alaimo JT, Hahn NC, Hahn NH, Mullegama SV, Elsea SH. Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1. PLoS One. 2014; 9(8):e105077. PMID: 25127133; PMCID: PMC4134272.
    39. Tahir R, Kennedy A, Elsea SH, Dickinson AJ. Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus. Mech Dev. 2014 Aug; 133:91-104. PMID: 24878353.
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    40. Miller MJ, Soler-Alfonso CR, Grund JE, Fang P, Sun Q, Elsea SH, Sutton VR. Improved standards for prenatal diagnosis of citrullinemia. Mol Genet Metab. 2014 Jul; 112(3):205-9. PMID: 24889030.
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    41. Jones MA, Amr S, Ferebee A, Huynh P, Rosenfeld JA, Miles MF, Davies AG, Korey CA, Warrick JM, Shiang R, Elsea SH, Girirajan S, Grotewiel M. Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease. Biol Open. 2014; 3(5):342-52. PMID: 24705017; PMCID: PMC4021356.
    42. Posey JE, Burrage LC, Miller MJ, Liu P, Hardison MT, Elsea SH, Sun Q, Yang Y, Willis AS, Schlesinger AE, Bacino CA, Lee BH. Lysinuric Protein Intolerance Presenting with Multiple Fractures. Mol Genet Metab Rep. 2014; 1:176-183. PMID: 25419514.
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    43. Stofanko M, Han JC, Elsea SH, Pena HB, Gonçalves-Dornelas H, Pena SD. Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method. Dis Markers. 2013; 35(6):589-94. PMID: 24288428; PMCID: PMC3830787.
    44. Le TN, Elsea SH, Romero R, Chaiworapongsa T, Francis GL. Prolactin receptor gene polymorphisms are associated with gestational diabetes. Genet Test Mol Biomarkers. 2013 Jul; 17(7):567-71. PMID: 23651351; PMCID: PMC3700434.
    45. Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet. 2014 Jan; 22(1):57-63. PMID: 23632792; PMCID: PMC3865402.
    46. Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry. 2014 Mar; 19(3):368-79. PMID: 23587880; PMCID: PMC4756476.
    47. Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13; 91(1):56-72. PMID: 22770980; PMCID: PMC3397276.
    48. Morris B, Etoubleau C, Bourthoumieu S, Reynaud-Perrine S, Laroche C, Lebbar A, Yardin C, Elsea SH. Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. Am J Med Genet A. 2012 Aug; 158A(8):2015-20. PMID: 22753018.
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    49. Moshier MS, York TP, Silberg JL, Elsea SH. Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits. J Intellect Disabil Res. 2012 Oct; 56(10):996-1007. PMID: 22672270.
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    50. Lacaria M, Saha P, Potocki L, Bi W, Yan J, Girirajan S, Burns B, Elsea S, Walz K, Chan L, Lupski JR, Gu W. A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet. 2012; 8(5):e1002713. PMID: 22654670; PMCID: PMC3359973.
    51. Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH. Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Am J Hum Genet. 2012 Jun 8; 90(6):941-9. PMID: 22578325; PMCID: PMC3370274.
    52. Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulos DJ, Elsea SH, Mendoza-Londono R. Severe intellectual disability and autistic features associated with microduplication 2q23.1. Eur J Hum Genet. 2012 Apr; 20(4):398-403. PMID: 22085900; PMCID: PMC3306850.
    53. Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet. 2011 Oct 7; 89(4):551-63. PMID: 21981781; PMCID: PMC3188839.
    54. Elsea SH, Williams SR. Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways. Expert Rev Mol Med. 2011; 13:e14. PMID: 21545756.
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    55. Truong HT, Dudding T, Blanchard CL, Elsea SH. Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature. BMC Med Genet. 2010; 11:142. PMID: 20932317; PMCID: PMC2964533.
    56. Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet. 2010 Aug 13; 87(2):219-28. PMID: 20691407; PMCID: PMC2917703.
    57. Burns B, Schmidt K, Williams SR, Kim S, Girirajan S, Elsea SH. Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome. Hum Mol Genet. 2010 Oct 15; 19(20):4026-42. PMID: 20663924.
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    58. Foster RH, Kozachek S, Stern M, Elsea SH. Caring for the caregivers: an investigation of factors related to well-being among parents caring for a child with Smith-Magenis syndrome. J Genet Couns. 2010 Apr; 19(2):187-98. PMID: 20151318.
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    59. Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Eur J Hum Genet. 2010 Apr; 18(4):436-41. PMID: 19904302; PMCID: PMC2987257.
    60. Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH. 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. J Med Genet. 2010 Apr; 47(4):223-9. PMID: 19752160.
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    61. Girirajan S, Elsea SH. Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice. Mamm Genome. 2009 Apr; 20(4):247-55. PMID: 19319603.
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    62. Girirajan S, Truong HT, Blanchard CL, Elsea SH. A functional network module for Smith-Magenis syndrome. Clin Genet. 2009 Apr; 75(4):364-74. PMID: 19236431.
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    63. Girirajan S, Elsea SH. Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice. Eur J Med Genet. 2009 Jul-Aug; 52(4):224-8. PMID: 19116176.
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    64. Girirajan S, Hauck PM, Williams S, Vlangos CN, Szomju BB, Solaymani-Kohal S, Mosier PD, White KL, McCoy K, Elsea SH. Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response. Mamm Genome. 2008 Apr; 19(4):246-62. PMID: 18343975.
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    65. Truong HT, Solaymani-Kohal S, Baker KR, Girirajan S, Williams SR, Vlangos CN, Smith AC, Bunyan DJ, Roffey PE, Blanchard CL, Elsea SH. Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. Genet Test. 2008 Mar; 12(1):67-73. PMID: 18373405.
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    66. Nakamine A, Ouchanov L, Jiménez P, Manghi ER, Esquivel M, Monge S, Fallas M, Burton BK, Szomju B, Elsea SH, Marshall CR, Scherer SW, McInnes LA. Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Am J Med Genet A. 2008 Mar 1; 146A(5):636-43. PMID: 17334992.
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    67. Girirajan S, Patel N, Slager RE, Tokarz ME, Bucan M, Wiley JL, Elsea SH. How much is too much? Phenotypic consequences of Rai1 overexpression in mice. Eur J Hum Genet. 2008 Aug; 16(8):941-54. PMID: 18285828.
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    68. Elsea SH, Girirajan S. Smith-Magenis syndrome. Eur J Hum Genet. 2008 Apr; 16(4):412-21. PMID: 18231123.
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    69. Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome. Clin Genet. 2007 Jul; 72(1):47-58. PMID: 17594399.
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    70. Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clin Genet. 2007 Jun; 71(6):540-50. PMID: 17539903.
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    71. Girirajan S, Mendoza-Londono R, Vlangos CN, Dupuis L, Nowak NJ, Bunyan DJ, Hatchwell E, Elsea SH. Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1). Am J Med Genet A. 2007 May 1; 143A(9):999-1008. PMID: 17431895.
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    72. Gropman AL, Elsea S, Duncan WC, Smith AC. New developments in Smith-Magenis syndrome (del 17p11.2). Curr Opin Neurol. 2007 Apr; 20(2):125-34. PMID: 17351481.
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    73. Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR. RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A. 2006 Nov 15; 140(22):2454-63. PMID: 17041942.
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    74. Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH. Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med. 2006 Jul; 8(7):417-27. PMID: 16845274.
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    75. Girirajan S, Elsea SH. Brachydactyly A1: new relatives for old families? J Genet. 2005 Aug; 84(2):95-8. PMID: 16131709.
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    76. Girirajan S, Elsas LJ, Devriendt K, Elsea SH. RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 2005 Nov; 42(11):820-8. PMID: 15788730; PMCID: PMC1735950.
    77. Vlangos CN, Wilson M, Blancato J, Smith AC, Elsea SH. Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. Am J Med Genet A. 2005 Jan 30; 132A(3):278-82. PMID: 15690371.
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    78. Barry E, Derhammer T, Elsea SH. Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population. Community Genet. 2005; 8(3):173-9. PMID: 16113534.
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    79. Smith AC, Magenis RE, Elsea SH. Overview of Smith-Magenis syndrome. J Assoc Genet Technol. 2005; 31(4):163-7. PMID: 16354942.
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    80. Vlangos CN, Yim DK, Elsea SH. Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? Mol Genet Metab. 2003 Jun; 79(2):134-41. PMID: 12809645.
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    81. Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH. Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 2003 Apr; 33(4):466-8. PMID: 12652298.
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    82. Smith AC, Gropman AL, Bailey-Wilson JE, Goker-Alpan O, Elsea SH, Blancato J, Lupski JR, Potocki L. Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med. 2002 May-Jun; 4(3):118-25. PMID: 12180145.
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    83. Elsea SH, Lucas RE. The mousetrap: what we can learn when the mouse model does not mimic the human disease. ILAR J. 2002; 43(2):66-79. PMID: 11917158.
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    84. Lucas RE, Vlangos CN, Das P, Patel PI, Elsea SH. Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. Eur J Hum Genet. 2001 Dec; 9(12):892-902. PMID: 11840190.
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    85. Frühwald MC, O'Dorisio MS, Dai Z, Rush LJ, Krahe R, Smiraglia DJ, Pietsch T, Elsea SH, Plass C. Aberrant hypermethylation of the major breakpoint cluster region in 17p11.2 in medulloblastomas but not supratentorial PNETs. Genes Chromosomes Cancer. 2001 Jan; 30(1):38-47. PMID: 11107174.
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    86. Elsea SH, Leykam V. HFE polymorphism and accurate diagnosis of C282Y hereditary hemochromatosis carriers. Blood. 2000 Apr 1; 95(7):2453-5. PMID: 10787240.
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    87. Vlangos CN, Das P, Patel PI, Elsea SH. 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. Cytogenet Cell Genet. 2000; 88(3-4):283-5. PMID: 10828610.
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    88. Elsea SH, Mykytyn K, Ferrell K, Coulter KL, Das P, Dubiel W, Patel PI, Metherall JE. Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome. Am J Med Genet. 1999 Dec 3; 87(4):342-8. PMID: 10588842.
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    89. Elsea SH, Clark IB, Juyal RC, Meyer DJ, Meyer DI, Patel PI. Assignment of beta-centractin (CTRN2) to human chromosome 2 bands q11.1-->q11.2 with somatic cell hybrids and in situ hybridization. Cytogenet Cell Genet. 1999; 84(1-2):48-9. PMID: 10343100.
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    90. Sun D, McDonnell M, Chen XS, Lakkis MM, Li H, Isaacs SN, Elsea SH, Patel PI, Funk CD. Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment. J Biol Chem. 1998 Dec 11; 273(50):33540-7. PMID: 9837935.
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    91. Elsea SH, Fritz E, Schoener-Scott R, Meyn MS, Patel PI. Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity. Am J Med Genet. 1998 Jan 6; 75(1):104-8. PMID: 9450867.
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    92. Sun D, Elsea SH, Patel PI, Funk CD. Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13. Cytogenet Cell Genet. 1998; 81(1):79-82. PMID: 9691181.
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    93. Fritz E, Elsea SH, Patel PI, Meyn MS. Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype. Proc Natl Acad Sci U S A. 1997 Apr 29; 94(9):4538-42. PMID: 9114025; PMCID: PMC20758.
    94. Elsea SH, Westergaard M, Burden DA, Lomenick JP, Osheroff N. Quinolones share a common interaction domain on topoisomerase II with other DNA cleavage-enhancing antineoplastic drugs. Biochemistry. 1997 Mar 11; 36(10):2919-24. PMID: 9062121.
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    95. Elsea SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE, Patel PI. Definition of the critical interval for Smith-Magenis syndrome. Cytogenet Cell Genet. 1997; 79(3-4):276-81. PMID: 9605871.
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    96. Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet. 1996 May; 58(5):998-1007. PMID: 8651284; PMCID: PMC1914618.
    97. Elsea SH, Juyal RC, Jiralerspong S, Finucane BM, Pandolfo M, Greenberg F, Baldini A, Stover P, Patel PI. Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. Am J Hum Genet. 1995 Dec; 57(6):1342-50. PMID: 8533763; PMCID: PMC1801426.
    98. Froelich-Ammon SJ, Burden DA, Patchan MW, Elsea SH, Thompson RB, Osheroff N. Increased drug affinity as the mechanistic basis for drug hypersensitivity of a mutant type II topoisomerase. J Biol Chem. 1995 Nov 24; 270(47):28018-21. PMID: 7499285.
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    99. Hsiung Y, Elsea SH, Osheroff N, Nitiss JL. 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. J Biol Chem. 1995 Sep 1; 270(35):20359-64. PMID: 7657608.
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    100. Elsea SH, Hsiung Y, Nitiss JL, Osheroff N. 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. J Biol Chem. 1995 Jan 27; 270(4):1913-20. PMID: 7829529.
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    101. Linnik MD, Butler BT, Elsea SH, Ahmed NK. Analysis of neurogenic contractions induced by ML-1035 and other benzamides in the guinea-pig non-stimulated isolated ileum. J Pharm Pharmacol. 1994 Jun; 46(6):491-6. PMID: 7932045.
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    102. Osheroff N, Corbett AH, Elsea SH, Westergaard M. Defining functional drug-interaction domains on topoisomerase II by exploiting mechanistic differences between drug classes. Cancer Chemother Pharmacol. 1994; 34 Suppl:S19-25. PMID: 8070023.
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    103. Elsea SH, McGuirk PR, Gootz TD, Moynihan M, Osheroff N. 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. Antimicrob Agents Chemother. 1993 Oct; 37(10):2179-86. PMID: 8257142; PMCID: PMC192247.
    104. Elsea SH, Osheroff N, Nitiss JL. Cytotoxicity of quinolones toward eukaryotic cells. Identification of topoisomerase II as the primary cellular target for the quinolone CP-115,953 in yeast. J Biol Chem. 1992 Jul 5; 267(19):13150-3. PMID: 1320012.
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    105. Kuo BS, Kusmik WF, Poole JC, Elsea SH, Chang J, Hwang KK. Pharmacokinetic evaluation of two human epidermal growth factors (hEGF51 and hEGF53) in rats. Drug Metab Dispos. 1992 Jan-Feb; 20(1):23-30. PMID: 1346992.
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