Tim Wood, PhD

Associate Professor, Pediatrics-Clinical Genetics and Metabolism

FacultyPhoto
Graduate Schools
  • MS, Southern Illinois University Carbondale (1995)
  • PhD, University of Alabama at Birmingham (2000)
Undergraduate School
  • BSc (Hons), Samford University (AL) (1993)
Fellowships
  • Greenwood Genetic Center Program, Clinical Molecular Genetics and Genomics (2002)
  • Greenwood Genetic Center Program, Clinical Biochemical Genetics (2005)
Department
Pediatrics-Clinical Genetics and Metabolism

Professional Titles

  • Director, Biochemical Genetics Laboratory

Publications

  • Oglesbee D, Cowan TM, Pasquali M, Wood TC, Weck KE, Long T, Palomaki GE. CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance. Genet Med. 2018 Jan;20(1):83-90. PubMed PMID: 28661487
  • Kumar AB, Hong X, Yi F, Wood T, Gelb MH. Tandem mass spectrometry-based multiplex assays for a-mannosidosis and fucosidosis. Mol Genet Metab. 2019 Jul;127(3):207-211. PubMed PMID: 31235216
  • Huang R, Cathey S, Pollard L, Wood T. UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring. Clin Chem. 2018 Dec;64(12):1772-1779. PubMed PMID: 30201803
  • Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. Hum Mutat. 2021 Nov;42(11):1384-1398. PubMed PMID: 34387910
  • Ziats CA, Burns WB, Tedder ML, Pollard L, Wood T, Champaigne NL. 3-Methylglutaconic aciduria in carriers of primary carnitine deficiency. Eur J Med Genet. 2021 Dec;64(12):104365. PubMed PMID: 34637945
  • Wongkittichote P, Upchurch GM, Dehner LP, Wood T, Granadillo JL. Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant. Mol Genet Metab Rep. 2021 Jun;27:100747. PubMed PMID: 33854947
  • Radenkovic S, Fitzpatrick-Schmidt T, Byeon SK, Madugundu AK, Saraswat M, Lichty A, Wong SYW, McGee S, Kubiak K, Ligezka A, Ranatunga W, Zhang Y, Wood T, Friez MJ, Clarkson K, Pandey A, Jones JR, Morava E. Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation. Mol Genet Metab. 2021 Jan;132(1):27-37. PubMed PMID: 33129689
  • Front S, Almeida S, Zoete V, Charollais-Thoenig J, Gallienne E, Marmy C, Pilloud V, Marti R, Wood T, Martin OR, Demotz S. 4-epi-Isofagomine derivatives as pharmacological chaperones for the treatment of lysosomal diseases linked to ß-galactosidase mutations: Improved synthesis and biological investigations. Bioorg Med Chem. 2018 Nov 1;26(20):5462-5469. PubMed PMID: 30270003
  • Champaigne NL, Leroy JG, Kishnani PS, Decaestecker J, Steenkiste E, Chaubey A, Li J, Verslype C, Van Dorpe J, Pollard L, Goldstein JL, Libbrecht L, Basehore M, Chen N, Hu H, Wood T, Friez MJ, Huizing M, Stevenson RE. New observation of sialuria prompts detection of liver tumor in previously reported patient. Mol Genet Metab. 2016 Jun;118(2):92-9. PubMed PMID: 27142465
  • Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, Matthijs G, Freeze HH. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016 Jul;37(7):653-60. PubMed PMID: 26931382
  • Zhang W, James PM, Ng BG, Li X, Xia B, Rong J, Asif G, Raymond K, Jones MA, Hegde M, Ju T, Cummings RD, Clarkson K, Wood T, Boerkoel CF, Freeze HH, He M. A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. Clin Chem. 2016 Jan;62(1):208-17. PubMed PMID: 26430078
  • Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Hum Mutat. 2015 Nov;36(11):1048-51. PubMed PMID: 26264460
  • Zhang H, Wood T, Young SP, Millington DS. A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: an improved clinical screening test for the mucopolysaccharidoses. Mol Genet Metab. 2015 Feb;114(2):123-8. PubMed PMID: 25458519
  • Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol Genet Metab. 2013 Sep-Oct;110(1-2):54-64. PubMed PMID: 23665161
  • Zhang Z, Norris J, Kalscheuer V, Wood T, Wang L, Schwartz C, Alexov E, Van Esch H. A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Hum Mol Genet. 2013 Sep 15;22(18):3789-97. PubMed PMID: 23696453
  • Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis. 2013 Mar;36(2):293-307. PubMed PMID: 23371450
  • Pollard LM, Jones JR, Wood TC. Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. J Inherit Metab Dis. 2013 Mar;36(2):179-87. PubMed PMID: 22976768
  • Mendelsohn NJ, Wood T, Olson RA, Temme R, Hale S, Zhang H, Read L, White KK. Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses. JIMD Rep. 2013;11:125-32. PubMed PMID: 23657977
  • Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P. Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab. 2012 May;106(1):73-82. PubMed PMID: 22405600
  • De Biase I, Champaigne NL, Schroer R, Pollard LM, Longo N, Wood T. Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report. JIMD Rep. 2012;2:87-90. PubMed PMID: 23430858
  • Champion KJ, Basehore MJ, Wood T, Destrée A, Vannuffel P, Maystadt I. Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB). Mol Genet Metab. 2010 May;100(1):51-6. PubMed PMID: 20138557
  • Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet. 2010 Jan;47(1):38-48. PubMed PMID: 19617216
  • Pollard LM, Williams NR, Espinoza L, Wood TC, Spector EB, Schroer RJ, Holden KR. Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency. J Child Neurol. 2010 Aug;25(8):954-60. PubMed PMID: 20023066
  • Carling RS, Hogg SL, Wood TC, Calvin J. Simultaneous determination of guanidinoacetate, creatine and creatinine in urine and plasma by un-derivatized liquid chromatography-tandem mass spectrometry. Ann Clin Biochem. 2008 Nov;45(Pt 6):575-84. PubMed PMID: 18782816
  • Bodamer OA, Giugliani R, Wood T. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Mol Genet Metab. 2014 Sep-Oct;113(1-2):34-41. PubMed PMID: 25127543
  • Leroy JG, Sillence D, Wood T, Barnes J, Lebel RR, Friez MJ, Stevenson RE, Steet R, Cathey SS. A novel intermediate mucolipidosis II/IIIaß caused by GNPTAB mutation in the cytosolic N-terminal domain. Eur J Hum Genet. 2014 May;22(5):594-601. PubMed PMID: 24045841
  • Peron A, Spaccini L, Norris J, Bova SM, Selicorni A, Weber G, Wood T, Schwartz CE, Mastrangelo M. Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet A. 2013 Sep;161A(9):2316-20. PubMed PMID: 23897707
  • Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab. 2013 Dec;110(4):484-9. PubMed PMID: 24144945
  • Marshall LS, Simon J, Wood T, Peng M, Owen R, Feldman GS, Zaragoza MV. Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation. BMC Med Genet. 2013 May 1;14:49. PubMed PMID: 23634718
  • Burruss DM, Wood TC, Espinoza L, Dwivedi A, Holden KR. Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2). J Child Neurol. 2012 Jun;27(6):786-90. PubMed PMID: 22190500
  • Sowell J, Norris J, Jones K, Schwartz C, Wood T. Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry. Clin Chim Acta. 2011 Mar 18;412(7-8):655-60. PubMed PMID: 21219895
  • Sowell J, Pollard L, Wood T. Quantification of branched-chain amino acids in blood spots and plasma by liquid chromatography tandem mass spectrometry for the diagnosis of maple syrup urine disease. J Sep Sci. 2011 Mar;34(6):631-9. PubMed PMID: 21328532
  • Sowell J, Wood T. Towards a selected reaction monitoring mass spectrometry fingerprint approach for the screening of oligosaccharidoses. Anal Chim Acta. 2011 Feb 7;686(1-2):102-6. PubMed PMID: 21237314
  • Sowell J, Fuqua M, Wood T. Quantification of total and free carnitine in human plasma by hydrophilic interaction liquid chromatography tandem mass spectrometry. J Chromatogr Sci. 2011;49(6):463-8. PubMed PMID: 21682996
  • Mudd SH, Wagner C, Luka Z, Stabler SP, Allen RH, Schroer R, Wood T, Wang J, Wong LJ. Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine. Mol Genet Metab. 2012 Feb;105(2):228-36. PubMed PMID: 22137549
  • Hathaway SC, Friez M, Limbo K, Parker C, Salomons GS, Vockley J, Wood T, Abdul-Rahman OA. X-linked creatine transporter deficiency presenting as a mitochondrial disorder. J Child Neurol. 2010 Aug;25(8):1009-12. PubMed PMID: 20501887
  • DeLong K, Feigenbaum A, Pollard L, Lay A, Wood T. Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome. Mol Genet Metab Rep. 2022 Dec;33:100920. PubMed PMID: 36245961
  • Colonna MB, Moss T, Mokashi S, Srikanth S, Jones JR, Foley JR, Skinner C, Lichty A, Kocur A, Wood T, Stewart TM, Casero RA, Flanagan-Steet H, Edison AS, Lyons MJ, Steet R. Functional Assessment of Homozygous ALDH18A1 Variants Reveals Alterations in Amino Acid and Antioxidant Metabolism. Hum Mol Genet. 2022 Sep 6. [Epub ahead of print] PubMed PMID: 36067040
  • Sohn YB, Rogers C, Stallworth J, Cooley Coleman JA, Buch L, Jozwiak E, Johnson JA, Wood T, Harmatz P, Pollard L, Louie RJ. RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A. Mol Genet Metab Rep. 2022 Jun;31:100875. PubMed PMID: 35782621
  • Strovel ET, Cusmano-Ozog K, Wood T, Yu C. Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022 Apr;24(4):769-783. PubMed PMID: 35394426
  • Gupta AO, Patterson MC, Wood T, Eisengart JB, Orchard PJ, Lund TC. Hematopoietic cell transplantation for sialidosis type I. Mol Genet Metab Rep. 2022 Mar;30:100832. PubMed PMID: 35242566
  • Wood TC. Commentary on A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice. Clin Chem. 2023 Jan 4;69(1):22. PubMed PMID: 36598551
  • Barzi M, Johnson CG, Chen T, Rodriguiz RM, Hemmingsen M, Gonzalez TJ, Rosales A, Beasley J, Peck CK, Ma Y, Stiles AR, Wood TC, Maeso-Diaz R, Diehl AM, Young SP, Everitt JI, Wetsel WC, Lagor WR, Bissig-Choisat B, Asokan A, El-Gharbawy A, Bissig KD. Rescue of glutaric aciduria type I in mice by liver-directed therapies. Sci Transl Med. 2023 Apr 19;15(692):eadf4086. PubMed PMID: 37075130
  • Siddiqui A, Dundar H, Sharma J, Kaczmarczyk A, Echols J, Dai Y, Sun CR, Du M, Liu Z, Zhao R, Wood T, Sanders S, Rasmussen L, Bostwick JR, Augelli-Szafran C, Suto M, Rowe SM, Bedwell DM, Keeling KM. Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome). Int J Mol Sci. 2023 Feb 24;24(5). PubMed PMID: 36901952
  • Hong X, Pollard L, He M, Gelb MH, Wood TC. Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III. Mol Genet Metab Rep. 2023 Jun;35:100978. PubMed PMID: 37275682
  • Hong X, Pollard L, He M, Gelb MH, Wood TC. Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III. Mol Genet Metab Rep. 2023 Jun;35:100978. PubMed PMID: 37275682
  • Wood TC. Commentary on A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice. Clin Chem. 2023 Jan 4;69(1):22. PubMed PMID: 36598551
  • Colonna MB, Moss T, Mokashi S, Srikanth S, Jones JR, Foley JR, Skinner C, Lichty A, Kocur A, Wood T, Stewart TM, Casero RA Jr, Flanagan-Steet H, Edison AS, Lyons MJ, Steet R. Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism. Hum Mol Genet. 2023 Feb 19;32(5):732-744. PubMed PMID: 36067040
  • Barzi M, Johnson CG, Chen T, Rodriguiz RM, Hemmingsen M, Gonzalez TJ, Rosales A, Beasley J, Peck CK, Ma Y, Stiles AR, Wood TC, Maeso-Diaz R, Diehl AM, Young SP, Everitt JI, Wetsel WC, Lagor WR, Bissig-Choisat B, Asokan A, El-Gharbawy A, Bissig KD. Rescue of glutaric aciduria type I in mice by liver-directed therapies. Sci Transl Med. 2023 Apr 19;15(692):eadf4086. PubMed PMID: 37075130
  • Siddiqui A, Dundar H, Sharma J, Kaczmarczyk A, Echols J, Dai Y, Sun CR, Du M, Liu Z, Zhao R, Wood T, Sanders S, Rasmussen L, Bostwick JR, Augelli-Szafran C, Suto M, Rowe SM, Bedwell DM, Keeling KM. Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome). Int J Mol Sci. 2023 Feb 24;24(5). PubMed PMID: 36901952
  • Sohn YB, Wang R, Ashworth J, Broqua P, Tallandier M, Abitbol JL, Jozwiak E, Pollard L, Wood TC, Aslam T, Harmatz PR. Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT). Mol Genet Metab Rep. 2024 Mar;38:101041. PubMed PMID: 38234862
  • Starosta RT, Larson AA, Meeks NJL, Gracie S, Friederich MW, Gaughan SM, Baker PR 2nd, Knupp KG, Michel CR, Reisdorph R, Hock DH, Stroud DA, Wood T, Van Hove JLK. An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis. Mitochondrion. 2024 Oct 15;79:101973. [Epub ahead of print] PubMed PMID: 39413893

Practice Locations

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

Hospital Affiliation
  • Children's Hospital Colorado

Specialty Information

Specialties
  • Clinical Biochemical Genetics, Board Certification (2005)
  • Clinical Molecular Genetics and Genomics, Board Certification (2002)

School of Medicine

CU Anschutz
Fitzsimons Building

13001 East 17th Place

Aurora, CO 80045

303.724.5375

School
General
Students