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Curtis Raymond Coughlin II

TitleAssociate Professor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS
Phone303/724-2310
Email

    Collapse Biography 
    Collapse awards and honors
    2015Emmanuel Shapira Award, Society for Inherited Metabolic Disorders

    Collapse Bibliographic 
    Collapse selected publications
    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. Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, Emanuel BS, Shaikh TH, Vermeesch JR. The 22q11 low copy repeats are characterized by unprecedented size and structural variability. Genome Res. 2019 09; 29(9):1389-1401. PMID: 31481461.
      View in: PubMed
    2. Faucett WA, Peay H, Coughlin CR. Genetic Testing: Consent and Result Disclosure for Primary Care Providers. Med Clin North Am. 2019 Nov; 103(6):967-976. PMID: 31582007.
      View in: PubMed
    3. Berry SA, Coughlin CR, McCandless S, McCarter R, Seminara J, Yudkoff M, LeMons C. Developing interactions with industry in rare diseases: lessons learned and continuing challenges. Genet Med. 2020 01; 22(1):219-226. PMID: 31337884.
      View in: PubMed
    4. Stence NV, Fenton LZ, Levek C, Tong S, Coughlin CR, Hennermann JB, Wortmann SB, Van Hove JLK. Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype. J Inherit Metab Dis. 2019 May; 42(3):438-450. PMID: 30737808.
      View in: PubMed
    5. Wempe MF, Kumar A, Kumar V, Choi YJ, Swanson MA, Friederich MW, Hyland K, Yue WW, Van Hove JLK, Coughlin CR. Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening. J Inherit Metab Dis. 2019 May; 42(3):565-574. PMID: 30663059.
      View in: PubMed
    6. Coughlin CR, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM, 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. 2019 03; 42(2):353-361. PMID: 30043187.
      View in: PubMed
    7. Ah Mew N, Cnaan A, McCarter R, Choi H, Glass P, Rice K, Scavo L, Gillespie CW, Diaz GA, Berry GT, Wong D, Konczal L, McCandless SE, Coughlin Ii CR, Weisfeld-Adams JD, Ficicioglu C, Yudkoff M, Enns GM, Lichter-Konecki U, Gallagher R, Tuchman M. Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Transl Sci Rare Dis. 2018 Dec 20; 3(3-4):157-170. PMID: 30613471.
      View in: PubMed
    8. Coughlin CR, 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. Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2018 09; 20(9):1098. PMID: 29300369.
      View in: PubMed
    9. Ormond KE, Hallquist MLG, Buchanan AH, Dondanville D, Cho MK, Smith M, Roche M, Brothers KB, Coughlin CR, Hercher L, Hudgins L, Jamal S, Levy HP, Raskin M, Stosic M, Uhlmann W, Wain KE, Currey E, Faucett WA. Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background. Genet Med. 2019 03; 21(3):727-735. PMID: 29976988.
      View in: PubMed
    10. Waisbren SE, Cuthbertson D, Burgard P, Holbert A, McCarter R, Cederbaum S. Biochemical markers and neuropsychological functioning in distal urea cycle disorders. J Inherit Metab Dis. 2018 07; 41(4):657-667. PMID: 29423830.
      View in: PubMed
    11. Coughlin CR, 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. 2018 02; 79:e1. PMID: 29239742.
      View in: PubMed
    12. 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 05; 40(3):423-431. PMID: 28205048.
      View in: PubMed
    13. Friederich MW, Erdogan AJ, Coughlin CR, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, 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. 2017 02 15; 26(4):702-716. PMID: 28040730.
      View in: PubMed
    14. Scalais E, Osterheld E, Weitzel C, De Meirleir L, Mataigne F, Martens G, Shaikh TH, Coughlin CR, Yu HC, Swanson M, Friederich MW, Scharer G, Helbling D, Wendt-Andrae J, Van Hove JLK. X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid. Pediatr Neurol. 2017 Jun; 71:65-69. PMID: 28363510.
      View in: PubMed
    15. Beard L, Wymore E, Fenton L, Coughlin CR, Weisfeld-Adams JD. Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt. J Inherit Metab Dis. 2017 01; 40(1):159-160. PMID: 27832417.
      View in: PubMed
    16. Coughlin CR, 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. 2017 01; 19(1):104-111. PMID: 27362913.
      View in: PubMed
    17. Yu HC, Coughlin CR, Geiger EA, Salvador BJ, Elias ER, Cavanaugh JL, Chatfield KC, Miyamoto SD, Shaikh TH. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Cold Spring Harb Mol Case Stud. 2016 May; 2(3):a000844. PMID: 27148590.
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    18. Swanson MA, Coughlin CR, Van Hove JL. Corrigendum: Swanson MA, Coughlin CR Jr, Scharer GH, et al: Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol 2015;78:606-618. Ann Neurol. 2016 Mar; 79(3):505. PMID: 26969502.
      View in: PubMed
    19. van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S. Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. Pediatr Neurol. 2016 06; 59:6-12. PMID: 26995068.
      View in: PubMed
    20. Bjoraker KJ, Swanson MA, Coughlin CR, 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 Mar; 170:234-9. PMID: 26749113.
      View in: PubMed
    21. Weber DR, Coughlin C, Brodsky JL, Lindstrom K, Ficicioglu C, Kaplan P, Freehauf CL, Levine MA. Low bone mineral density is a common finding in patients with homocystinuria. Mol Genet Metab. 2016 Mar; 117(3):351-4. PMID: 26689745.
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    22. Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, Stone E, Alters SE, Johnson DE, Rowlinson SW, Georgiou G, Lee BH. 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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    23. Swanson MA, Coughlin CR, 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. PMID: 26179960.
      View in: PubMed
    24. Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis. 2015 Jun 18; 10:79. PMID: 26081110.
      View in: PubMed
    25. Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 06 04; 372(23):2235-42. PMID: 26014595.
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    26. Coughlin CR, van Karnebeek CD, Al-Hertani W, Shuen AY, Jaggumantri S, Jack RM, Gaughan S, Burns C, Mirsky DM, Gallagher RC, Van Hove JL. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):35-43. PMID: 26026794.
      View in: PubMed
    27. Coughlin CR, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet. 2015 Aug; 52(8):532-40. PMID: 25787132.
      View in: PubMed
    28. Chatfield KC, Coughlin CR, 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. PMID: 25575635.
      View in: PubMed
    29. van Karnebeek CD, Stockler-Ipsiroglu S, Jaggumantri S, Assmann B, Baxter P, Buhas D, Bok LA, Cheng B, Coughlin CR, Das AM, Giezen A, Al-Hertani W, Ho G, Meyer U, Mills P, Plecko B, Struys E, Ueda K, Albersen M, Verhoeven N, Gospe SM, Gallagher RC, Van Hove JK, Hartmann H. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. JIMD Rep. 2014; 15:1-11. PMID: 24748525.
      View in: PubMed
    30. Baker PR, 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, Spector E, Wempe MF, Van Hove JL. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain. 2014 Feb; 137(Pt 2):366-79. PMID: 24334290.
      View in: PubMed
    31. Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet. 2013 Sep 05; 93(3):506-14. PMID: 24011988.
      View in: PubMed
    32. Coughlin CR, Hyland K, Randall R, Ficicioglu C. Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report. JIMD Rep. 2013; 10:53-6. PMID: 23430801.
      View in: PubMed
    33. Stence NV, Coughlin CR, Fenton LZ, Thomas JA. Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. Pediatr Radiol. 2013 Jul; 43(7):882-5. PMID: 23250031.
      View in: PubMed
    34. Coughlin CR, Scharer GH, Shaikh TH. Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med. 2012; 4(10):80. PMID: 23114084.
      View in: PubMed
    35. van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR, Das AM, Gospe SM, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab. 2012 Nov; 107(3):335-44. PMID: 23022070.
      View in: PubMed
    36. Sampson MG, Coughlin CR, Kaplan P, Conlin LK, Meyers KE, Zackai EH, Spinner NB, Copelovitch L. Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Am J Med Genet A. 2010 Oct; 152A(10):2618-22. PMID: 20799338.
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    37. Coughlin CR, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J. Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency. Mol Genet Metab. 2010 Jul; 100(3):296-9. PMID: 20462777.
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    38. Coughlin CR, Ficicioglu C. Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2010 Dec; 33 Suppl 3:S129-31. PMID: 20107901.
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    39. Ficicioglu C, Coughlin CR, Bennett MJ, Yudkoff M. Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. J Pediatr. 2010 Mar; 156(3):492-4. PMID: 20056241.
      View in: PubMed
    40. Kranick SM, Ganesh J, Coughlin CR, Licht DJ. Child neurology: a case illustrating the role of imaging in evaluation of sudden infant death. Neurology. 2009 Sep 15; 73(11):e54-6. PMID: 19752447.
      View in: PubMed
    41. DeBerardinis RJ, Coughlin CR, Kaplan P. Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children. J Urol. 2008 Dec; 180(6):2620-3. PMID: 18951580.
      View in: PubMed
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