Janet Thomas, MD
Professor, Pediatrics-Clinical Genetics and Metabolism

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Medical School:
  • MD, University of Iowa Roy J. and Lucille A. Carver College of Medicine (1990)
Undergraduate School:
  • BS, Loras College (IA) (1986)
Internship:
  • University of Arizona Program (1991)
Residency:
  • University of Arizona Program, Pediatrics (1993)
Fellowships:
  • University of Colorado (University Hospital) Program, Clinical Genetics and Genomics (MD) (1996)
  • Cedars-Sinai Medical Center/VA Greater Los Angeles Healthcare System Program, Clinical Genetics and Genomics (MD) (1995)
Languages: English
Department: Pediatrics-Clinical Genetics and Metabolism

Professional Titles

  • Director, Inherited Metabolic Diseases Clinic

Publications

  • Van Hove JLK, Thomas JA, McCandless SE, Woontner M, Coughlin C. In Memoriam. J Inherit Metab Dis. 2020 Dec 22. [Epub ahead of print] PubMed PMID: 33354834
  • Burton BK, Longo N, Vockley J, Grange DK, Harding CO, Decker C, Li M, Lau K, Rosen O, Larimore K, Thomas J. Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up. Mol Genet Metab. 2020 Aug;130(4):239-246. PubMed PMID: 32593547
  • SriBhashyam S, Marsh K, Quartel A, Weng HH, Gershman A, Longo N, Thomas J, Zori R. A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences. Mol Genet Metab Rep. 2019 Dec;21:100507. PubMed PMID: 31497506
  • Van Hove JLK, Freehauf CL, Ficicioglu C, Pena LDM, Moreau KL, Henthorn TK, Christians U, Jiang H, Cowan TM, Young SP, Hite M, Friederich MW, Stabler SP, Spector EB, Kronquist KE, Thomas JA, Emmett P, Harrington MJ, Pyle L, Creadon-Swindell G, Wempe MF, MacLean KN. Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ß-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial. J Inherit Metab Dis. 2019 May;42(3):424-437. PubMed PMID: 30873612
  • Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, Zori R, Harding CO. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genet Med. 2019 Aug;21(8):1851-1867. PubMed PMID: 30546086
  • Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, Zori R, Harding CO. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genet Med. 2018 Dec 14. [Epub ahead of print] PubMed PMID: 30546086
  • Zori R, Thomas JA, Shur N, Rizzo WB, Decker C, Rosen O, Li M, Schweighardt B, Larimore K, Longo N. Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria. Mol Genet Metab. 2018 Nov;125(3):217-227. PubMed PMID: 30146451
  • Van Hove JLK, Thomas JA, Baker PR 2nd, Larson AA. In memoriam. J Inherit Metab Dis. 2018 May 7. [Epub ahead of print] PubMed PMID: 29736632
  • Clarke LA, Atherton AM, Burton BK, Day-Salvatore DL, Kaplan P, Leslie ND, Scott CR, Stockton DW, Thomas JA, Muenzer J. Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management. J Pediatr. 2017 Mar;182:363-370. PubMed PMID: 27939258
  • Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grunewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. J Inherit Metab Dis. 2017 May;40(3):423-431. PubMed PMID: 28205048
  • Clarke LA, Atherton AM, Burton BK, Day-Salvatore DL, Kaplan P, Leslie ND, Scott CR, Stockton DW, Thomas JA, Muenzer J. Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management. J Pediatr. 2016 Dec 7. [Epub ahead of print] PubMed PMID: 27939258
  • Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015 Jan 6;21C:1-10. [Epub ahead of print] PubMed PMID: 25575635
  • Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet J Rare Dis. 2015 Aug 20;10:99. PubMed PMID: 26289392
  • Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015 Mar;21:1-10. PubMed PMID: 25575635
  • Stence NV, Coughlin CR 2nd, Fenton LZ, Thomas JA. Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. Pediatr Radiol. 2012 Dec 19. [Epub ahead of print] PubMed PMID: 23250031
  • Kripps KA, Baker PR, Thomas JA, Skillman HE, Bernstein LE, Gaughan S, Burns C, Coughlin CR, McCandless SE, Larson AA, Kochhar A, Stillman C, Wymore E, Hendricks E, Woontner M. Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases. Molecular Genetics and Metabolism. Submitted.
  • Thomas, JA. Homocystinuria and Cobalamin Disorders. In Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, 2nd edition. Bernstein LE, Rohr F, Helm J editors. Springer Publishing, Submitted.
  • Thomas, JA. Organic Acidemias. In: Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, 2nd edition. Bernstein LE, Rohr F, Helm J editors. Springer Publishing, Submitted.
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Professional Memberships

  • American Society of Pediatrics, Member
  • American Society of Human Genetics, Member
  • The Society for the Study of Inborn Errors of Metabolism, Member
  • Society for Inherited Metabolic Disorders, Member

Practice Locations

University of Colorado Hospital (UCH)
12605 E. 16th Ave
Aurora, CO 80045
720-848-0000

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

Hospital Affiliation
  • Children's Hospital Colorado
  • University of Colorado Hospital

Specialty Information

Specialties
  • Pediatrics, Board Certification (1994, 2008)
  • Clinical Genetics and Genomics (MD), Board Certification (1996, 2009)
  • Clinical Biochemical Genetics, Board Certification (1996, 2009)
Conditions & Treatments
  • Genetic Conditions and Testing

General Information

Medical Schools:
  • MD, University of Iowa Roy J. and Lucille A. Carver College of Medicine (1990)
Undergraduate Schools:
  • BS, Loras College (IA) (1986)
Internships:
  • University of Arizona Program (1991)
Residency Programs:
  • University of Arizona Program, Pediatrics (1993)
Fellowships:
  • University of Colorado (University Hospital) Program, Clinical Genetics and Genomics (MD) (1996)
  • Cedars-Sinai Medical Center/VA Greater Los Angeles Healthcare System Program, Clinical Genetics and Genomics (MD) (1995)
Languages: English
Department: Pediatrics-Clinical Genetics and Metabolism
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