Colorado PROFILES, The Colorado Clinical and Translational Sciences Institute (CCTSI)
Keywords
Last Name
Institution

Curtis Raymond Coughlin II

TitleAssociate Professor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS
Phone303/724-3839
Email

    Collapse Biography 
    Collapse education and training
    Geneva College, PABSBiology
    Arcadia University, PAMSGenetic Counseling
    University of Pennsylvania, PAMBEBioethics
    University of Colorado, COPhDClinical Sciences
    Collapse awards and honors
    2015Emmanuel Shapira Award, Society for Inherited Metabolic Disorders

    Collapse Overview 
    Collapse overview
    Curtis Coughlin II is an Associate Professor in the Department of Pediatrics and the Center for Bioethics and Humanities. His research focuses on inborn errors of metabolism that result in neurologic dysfunction such as pyridoxine-dependent epilepsy (PDE-ALDH7A1) and glutaric aciduria type I (GA I). His laboratory utilizes model organisms to characterize the role of metabolites in disease pathology. Dr. Coughlin is a clinical ethicist at the Children’s Hospital Colorado. He is an ELSI genomics researcher that focuses on equitable access to genetic information and supporting individual decision-making.

    Collapse Research 
    Collapse research activities and funding
    R21HD104952     (Coughlin, Curtis)Jun 8, 2022 - May 31, 2024
    NIH/NICHD
    Newborn screening and treatment monitoring for patients with pyridoxine-dependent epilepsy
    Role Description: To establish a dried blood method to measure 6-oxo-pipecoalte in patients affected with pyridoxine-dependent epilepsy.
    Role: PI

    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.
    List All   |   Timeline
    1. Hallquist MLG, Borensztein MJ, Coughlin CR, Buchanan AH, Andrew Faucett W, Peay HL, Smith ME, Tricou EP, Uhlmann WR, Wain KE, Ormond KE. Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists. Eur J Hum Genet. 2023 10; 31(10):1165-1174. PMID: 37308598.
      View in: PubMed
    2. Houten S, Coughlin CR. Is it time to start to consider treating the liver in glutaric aciduria type 1? J Inherit Metab Dis. 2023 07; 46(4):539-540. PMID: 37162343.
      View in: PubMed
    3. Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM, van Karnebeek C. Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy. Neurology. 2022 Dec 05; 99(23):e2627-e2636. PMID: 36008148.
      View in: PubMed
    4. Tseng LA, Hoytema van Konijnenburg EMM, Longo N, Andrews A, van Wegberg A, Coene KLM, Coughlin CR, van Karnebeek CDM. Clinical Reasoning: Pediatric Seizures of Unknown Cause. Neurology. 2022 06 14; 98(24):1023-1028. PMID: 35470136.
      View in: PubMed
    5. Coughlin CR, Tseng LA, van Karnebeek CDM. A case for newborn screening for pyridoxine-dependent epilepsy. Cold Spring Harb Mol Case Stud. 2022 02; 8(2). PMID: 35217564.
      View in: PubMed
    6. Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Gr?nborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, Gospe SM, Coughlin CR, van Karnebeek CDM. Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy. Mol Genet Metab. 2022 04; 135(4):350-356. PMID: 35279367.
      View in: PubMed
    7. Ormond KE, Borensztein MJ, Hallquist MLG, Buchanan AH, Faucett WA, Peay HL, Smith ME, Tricou EP, Uhlmann WR, Wain KE, Coughlin CR. Defining the Critical Components of Informed Consent for Genetic Testing. J Pers Med. 2021 Dec 05; 11(12). PMID: 34945775.
      View in: PubMed
    8. Strijker M, Tseng LA, van Avezaath LK, Oude Luttikhuis MAM, Ketelaar T, Coughlin CR, Coenen MA, van Spronsen FJ, Williams M, de Vries MC, Westerlaan HE, Bok LA, van Karnebeek CDM, Lunsing RJ. Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study. Eur J Paediatr Neurol. 2021 Jul; 33:112-120. PMID: 34153871.
      View in: PubMed
    9. Kripps KA, Baker PR, Thomas JA, Skillman HE, Bernstein L, Gaughan S, Burns C, Coughlin CR, McCandless SE, Larson AA, Kochar A, Stillman CF, Wymore EM, Hendricks EG, Woontner M, Van Hove JLK. REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases. Mol Genet Metab. 2021 07; 133(3):231-241. PMID: 33985889.
      View in: PubMed
    10. Hallquist MLG, Tricou EP, Ormond KE, Savatt JM, Coughlin CR, Faucett WA, Hercher L, Levy HP, O'Daniel JM, Peay HL, Stosic M, Smith M, Uhlmann WR, Wand H, Wain KE, Buchanan AH. Application of a framework to guide genetic testing communication across clinical indications. Genome Med. 2021 04 29; 13(1):71. PMID: 33926532.
      View in: PubMed
    11. Mostovoy Y, Yilmaz F, Chow SK, Chu C, Lin C, Geiger EA, Meeks NJL, Chatfield KC, Coughlin CR, Surti U, Kwok PY, Shaikh TH. Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation. Genetics. 2021 02 09; 217(2). PMID: 33724415.
      View in: PubMed
    12. Coughlin CR, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2021 01; 44(1):178-192. PMID: 33200442.
      View in: PubMed
    13. Bernstein L, Coughlin CR, Drumm M, Yannicelli S, Rohr F. Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey. Nutrients. 2020 Oct 16; 12(10). PMID: 33081139.
      View in: PubMed
    14. Moore JM, Glover JJ, Jackson BM, Coughlin CR, Kelsey MM, Inge TH, Boles RE. Development and application of an ethical framework for pediatric metabolic and bariatric surgery evaluation. Surg Obes Relat Dis. 2021 Feb; 17(2):425-433. PMID: 33191162.
      View in: PubMed
    15. Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR, Banerjee R, Haack TB, Van Hove JLK. Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. J Inherit Metab Dis. 2020 09; 43(5):1024-1036. PMID: 32160317.
      View in: PubMed
    16. Reyes-Nava NG, Yu HC, Coughlin CR, Shaikh TH, Quintana AM. Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish. Biol Open. 2020 04 13; 9(4). PMID: 32205311.
      View in: PubMed
    17. Coughlin CR. Pyridoxine-dependent epilepsy is more than just epilepsy. Dev Med Child Neurol. 2020 03; 62(3):268. PMID: 31763687.
      View in: PubMed
    18. 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
    19. 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
    20. 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
    21. 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 05; 42(3):438-450. PMID: 30737808.
      View in: PubMed
    22. 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 05; 42(3):565-574. PMID: 30663059.
      View in: PubMed
    23. 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
    24. 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
    25. Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodr?guez-Pombo P, V?is?nen ML, Spector E, Creadon-Swindell G, Br?s-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, P?rez-Cerd? 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
    26. 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
    27. 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
    28. 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
    29. 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
    30. 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
    31. 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
    32. 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
    33. Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodr?guez-Pombo P, V?is?nen ML, Spector E, Creadon-Swindell G, Br?s-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, P?rez-Cerd? 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
    34. 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.
      View in: PubMed
    35. 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
    36. 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
    37. 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.
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    38. 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.
      View in: PubMed
    39. 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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    40. 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
    41. 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
    42. 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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    43. 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
    44. 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
    45. 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
    46. 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
    47. 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.
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    48. 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.
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    49. 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.
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    50. 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.
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    51. 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.
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    52. 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.
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    53. 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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    54. 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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    55. 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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    56. 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.
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    57. 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.
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    58. 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.
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