Elaine Spector-Christensen, PhD
Professor, Pediatrics-Clinical Genetics and Metabolism

Photo
Medical School:
  • MD, Eastern Virginia Medical School (2002)
Graduate School :
  • PhD, University of Michigan (1974)
Languages: English
Department: Pediatrics-Clinical Genetics and Metabolism

Publications

  • Zhang S, Taylor AK, Huang X, Luo B, Spector EB, Fang P, Richards CS. Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Oct 5. [Epub ahead of print] PubMed PMID: 30297698
  • Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy. J Inherit Metab Dis. 2018 Jul 24. [Epub ahead of print] PubMed PMID: 30043187
  • González-Del Angel A, Rius R, Alcántara-Ortigoza MA, Spector E, Del Castillo V, Mata-García LE. Further delineation of achondroplasia-hypochondroplasia complex with long-term survival. Am J Med Genet A. 2018 May;176(5):1225-1231. PubMed PMID: 29681095
  • Richards CS, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. Response to Biesecker and Harrison. Genet Med. 2018 Mar 15. [Epub ahead of print] PubMed PMID: 29543230
  • Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JLK. CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2018 Jan 4. [Epub ahead of print] PubMed PMID: 29300369
  • Coughlin CR 2nd, Swanson MA, Spector EB, Kronquist KE, Van Hove JLK. Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene. Pediatr Neurol. 2017 Sep 28. [Epub ahead of print] PubMed PMID: 29239742
  • Swanson MA, Garcia SM, Spector E, Kronquist K, Creadon-Swindell G, Walter M, Christensen E, Van Hove JLK, Sass JO. d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. Mol Genet Metab. 2017 Jun;121(2):80-82. PubMed PMID: 28462797
  • Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM. Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. Am J Med Genet A. 2017 Apr;173(4):1097-1101. PubMed PMID: 28181399
  • Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke C, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector E, Van Hove JL, Riemer J. Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. Hum Mol Genet. 2016 Dec 30. [Epub ahead of print] PubMed PMID: 28040730
  • Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL. The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2016 Jun 30. [Epub ahead of print] PubMed PMID: 27362913
  • Shi Y, Dhamija R, Wren C, Wang X, Babovic-Vuksanovic D, Spector E. Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing. Am J Med Genet A. 2016 Dec;170(12):3359. PubMed PMID: 27604603
  • Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors. Mol Genet Metab. 2016 Sep;119(1-2):50-6. PubMed PMID: 27397597
  • Debrey SM, Leehey MA, Klepitskaya O, Filley CM, Shah RC, Kluger B, Berry-Kravis E, Spector E, Tassone F, Hall DA. Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series. Cerebellum. 2016 Oct;15(5):623-31. PubMed PMID: 27372099
  • Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL. The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2016 Jun 30. [Epub ahead of print] PubMed PMID: 27362913
  • Bjoraker KJ, Swanson MA, Coughlin CR 2nd, Christodoulou J, Tan ES, Fergeson M, Dyack S, Ahmad A, Friederich MW, Spector EB, Creadon-Swindell G, Hodge MA, Gaughan S, Burns C, Van Hove JL. Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia. J Pediatr. 2016 Jan 1. [Epub ahead of print] PubMed PMID: 26749113
  • Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol. 2015 Oct;78(4):606-18. PubMed PMID: 26179960
  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. PubMed PMID: 25741868
  • Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, Maclean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL. Variant nonketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain. 2013 Dec 11. [Epub ahead of print] PubMed PMID: 24334290
  • Monaghan KG, Lyon E, Spector EB. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med. 2013 Jul;15(7):575-86. PubMed PMID: 23765048
  • Stabler SP, Korson M, Jethva R, Allen RH, Kraus JP, Spector EB, Wagner C, Mudd SH. Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family. JIMD Rep. 2013;11:149-63. PubMed PMID: 23733603
  • Trakadis Y, Kadlubowska D, Barnes R, Mitchell J, Spector E, Frerman F, Melancon S. Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD). Mol Genet Metab. 2012 Aug;106(4):491-4. PubMed PMID: 22664151
  • Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO. Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis. 2012 Jan;35(1):51-63. PubMed PMID: 22033733
View All (22 Total) View Less

Practice Locations

Children's Hospital Colorado
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Hospital Affiliation
  • Children's Hospital Colorado

Specialty Information

Conditions & Treatments
  • Genetic Conditions and Testing

General Information

Medical Schools:
  • MD, Eastern Virginia Medical School (2002)
Graduate Schools:
  • PhD, University of Michigan (1974)
Languages: English
Department: Pediatrics-Clinical Genetics and Metabolism
;