Curtis Coughlin, PhD, MBe, MS

Professional Titles

• Genetic Counselor
• Healthcare Ethics Consultant

Recognitions

• Emmanuel Shapira Award, Society for Inherited Metabolic Disorders (SIMD) (2015)
  Awarded for the best research paper published in Molecular Genetics and Metabolism by a member of the SIMD

Research Interests

My clinical research is focused on bioethical issues including the intersection of genetics, privacy, and decision-making and pediatric ethical issues such as parental authority and equitable access to medical interventions. My basic science research is primary focused on inborn errors of metabolism. My laboratory uses animal and cellular models of glutaric aciduria type I (GA I) and pyridoxine-dependent epilepsy (PDE). We partner with clinicians, scientist and families to investigate the role of biochemistry, current treatment paradigms, and clinical outcomes.

Publications

• 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
• Coughlin CR 2nd, Scharer GH, Shaikh TH. Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med. 2012 Oct 30;4(10):80. [Epub ahead of print] PubMed PMID: 23114084
• van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, 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. PubMed PMID: 23022070
• Yu H, Coughlin CR 2nd, Geiger EA, Medne L, Zackai EH, Scharer GH, Van Hove JL and Shaikh TH. Whole-Exome Sequencing (WES): Identification of causative mutations in patients with multiple congenital anomalies and metabolic disorders through trio-based WES. Presented at Children’s Hospital Colorado Pediatric Research Poster Session. May 2012, Aurora Colorado (Poster)
• van Karnebeek CDM, Hartmann H, Jaggumantri S, Bok L, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe, Jr SM, Jakobs C, van der Lee H, 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 & future trials. Presented at the Society for the Study of Inborn Errors of Metabolism annual symposium. September 2012, Birmingham, United Kingdom (Poster)
• Golden-Grant KL, Scharer G, Walton CS, Coughlin CR 2nd. Whole exome sequencing: Are we ready? Presented at the National Society of Genetic Counselors 31st Annual Education Conference. October 2012, Boston, Massachusetts (Poster)
• Scharer G, Creadon-Swindell G, Spector E, Coughlin C, Shaikh T. Single exon deletion in PCCA gene in a patient with Propionic Acidemia highlights challenges to clinical whole exome CNV analysis. Presented at the 62nd Annual Meeting of The American Society of Human Genetics. November 2012, San Francisco, California (Poster)
• Yu H, Coughlin CR 2nd, Giger EA, Medne L, Ming JE, Zackai EH, Van Hove JL, Scharer GH, Shaikh TH. Family matters: Exome sequencing can identify causal variants in isolated probands through family studies. Presented at the 62nd Annual Meeting of The American Society of Human Genetics. November 2012, San Francisco, California (Poster)
• Kaplan P, Fitzgerald KK, Coughlin CR 2nd (2012) Ehlers-Danlos syndrome. In: W. R. Heymann, B.E. Anderson, C. Hiynor & S.R. Lessin (eds.). Clinical Decision Support: Dermatology.
• 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 non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain. 2014 Feb;137(Pt 2):366-79. PubMed PMID: 24334290
• Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, 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 5;93(3):506-14. PubMed PMID: 24011988
• Coughlin CR 2nd, Hyland K, Randall R, Ficicioglu C. Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report. JIMD Rep. 2013;10:53-6. PubMed PMID: 23430801
• Stence NV, Coughlin CR 2nd, Fenton LZ, Thomas JA. Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. Pediatr Radiol. 2013 Jul;43(7):882-5. PubMed PMID: 23250031
• Van Hove J, Coughlin C, Scharer G, Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K. Glycine Encephalopathy. . 1993. PubMed PMID: 20301531
• These are not the genes you are looking for: Incidental findings identified as a result of genetic testing. In: J.L. Berliner (ed). Ethical dilemmas in genetics: Exploring genetic counseling principles through case scenarios. New York, NY: Oxford University Press.
• Yu H, Scharer G, Quintana A, Coughlin CR 2nd, Geiger EA, Schneck U, VanHove JL, Shaikh TH. Mutations in HCFC1 Cause an X-linked cobalamin disorder (cblX) with a severe neurologic phenotype. Presented at Children’s Hospital Colorado Pediatric Research Poster Session. May 2013, Aurora Colorado (Poster)
• Sloan JL, Yu HC, Scharer G, Brebner A, Quintana A, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Van Hove JL, Fowler B, Baumgartner MR, Rosenblat D, Venditti CP, Shaikh TH. Mutations in a transcription regulator cause a novel X-linked cobalamin disorder (cblX) with a severe neurological phenotype. Presented at the International Congress of Inborn Errors of Metabolism. September 2013, Barcelona, Spain (Platform)
• Friederich MW, Chatfield KC, Coughlin CR 2nd, Thomas JA, Gallagher RC, Lovell MA, Wanders RJA, Wartchow EP, Van Hove JLK. Mitochondrial energy failure in HSD10 disease also known as 2-methyl-3-hydroxybutryryl-CoA dehydrogenase deficiency is secondary to defective mtRNA processing. Presented at the International Congress of Inborn Errors of Metabolism. September 2013, Barcelona, Spain (Platform)
• Yu HC, Sloan JL, Scharer G, Brebner A, Quintana A, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Van Hove JL, Fowler B, Baumgartner MR, Rosenblat D, Venditti CP, Shaikh TH. Mutations in HCFC1 a transcription coregulator causes a novel X-linked cobalamin disorder (cblX) with a severe neurological phenotype. Presented at 63rd Annual Meeting of The American Society of Human Genetics. October 2013, Boston, Massachusetts (Platform)
• 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
• van Karnebeek CD, Stockler-Ipsiroglu S, Jaggumantri S, Assmann B, Baxter P, Buhas D, Bok LA, Cheng B, Coughlin CR 2nd, 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 Jr, 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. PubMed PMID: 24748525
• 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 non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain. 2014 Feb;137(Pt 2):366-79. PubMed PMID: 24334290
• Coughlin CR 2nd. (2014) These are not the genes you are looking for: Incidental findings identified as a result of genetic testing. In: J.L. Berliner (ed). Ethical dilemmas in genetics: Exploring genetic counseling principles through case scenarios. New York, NY: Oxford University Press.
• Van Hove JLK, Coughlin CR. (2014) Nonketotic hyperglycinemia. In: GF Hoffmann and N Blau (eds). Congenital Neurotransmitter Disorders: A clinical approach. New York, NY: Nova Scientific Publishers, Inc
• Coughlin CR 2nd. Laboratory Evaluations in Inherited Metabolic Diseases. In: L Bernstein, F Rohr, J Helm (eds). Nutritional Treatment of Inherited Metabolic Diseases: Lessons from Metabolic University. (Submitted to editors, June 2014)
• Coughlin CR 2nd. Glutaric Aciduria Type I: Diagnosis and Management. In: L Bernstein, F Rohr, J Helm (eds). Nutritional Treatment of Inherited Metabolic Diseases: Lessons from Metabolic University. (Submitted to editors, July 2014)
• Coughlin CR 2nd, Aradhya S, Manchester D, Gallagher RC. Copy Number loss Proximal to the coding region of the ornithine transcarbamylase (OTC) gene confers severe neonatal OTC deficiency (OTCD): The first report that a distant mutation can confer OTCD. Presented at 37th Annual Meeting of The Society of Inherited Metabolic Diseases, March 2014, Asilomar, California
• Van Hove JL, Swanson MA, Coughlin CR 2nd, Bjoraker K, Spector E, Scharer G, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann J. Outcome in nonketotic hyperglycinemia. Presented at 37th Annual Meeting of The Society of Inherited Metabolic Diseases, March 2014, Asilomar, California (Platform)
• van Karnebeek C, Al-Hertani W, Jaggumantri S, Coughlin C, Gallagher R, Van Hove J, Stockler S, Hartmann H. Update on novel treatments for Pyridoxine-Dependent Epilepsy due to ATQ deficiency. Presented at the Meeting of Society for the Study of Inborn Errors of Metabolism, September 2014, Innsbruck Austria (Platform)
• Van Hove JL, Swanson MA, Coughlin CR 2nd, Szerlong H, Bjoraker K, Spector E, Scharer G, Creadon-Swindell G, Suhong T, Mahieu V, Matthijs G, Hennermann J. Outcome in nonketotic hyperglycinemia. Presented at the Child Neurology Society 43rd Annual Meeting, October 2014, Columbus, Ohio (Platform)
• Shuen AY, Coughlin CR 2nd, Lefrancois M, Srour M, Thomas JA, Gallagher RC, Waters PJ, Hyland K, Van Hove JL, Al-Hertani W. Combined triple therapy trial of pyridoxine, lysine restricted diet and arginine supplementation in four patients with pyridoxine-dependent epilepsy. Presented at 37th Annual Meeting of The Society of Inherited Metabolic Diseases, March 2014, Asilomar, California (Platform)
• 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
• Coughlin CR 2nd, 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. PubMed PMID: 25787132
• Coughlin CR 2nd, 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. PubMed PMID: 26026794
• Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR 2nd, 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. PubMed PMID: 26081110
• 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
• 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 Jun 4;372(23):2235-42. PubMed PMID: 26014595
• 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. PubMed PMID: 26358771
• 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. 2015 Dec 10. [Epub ahead of print] PubMed PMID: 26689745
• Bjoraker KJ, Swanson MA, Coughlin CR 2nd, Christodoulou J, Tan ES, Ferguson M, Dyack S, Ahmad A, Friederich MW, Spector E, Creadon-Swindell G, Hodge MA, Gaughan S, Burns C, Van Hove JLK. Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyerglycinemia. Journal of Pediatrics. Accepted 8 Dec 2015
• van Karnebeek CDM, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JLK, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S. Pyridoxine-Dependent Epilepsy: an expanding clinical spectrum. Pediatric Neurology. Accepted 18 Dec 2015
• Coughlin CR 2nd. (2015) Laboratory Evaluations in Inherited Metabolic Diseases. In: L Bernstein, F Rohr, J Helm (eds). Nutritional Treatment of Inherited Metabolic Diseases: Lessons from Metabolic University. pp. 75-88. New York, NY: Springer Publishing Company
• Coughlin CR 2nd. (2015) Glutaric Aciduria Type I: Diagnosis and Management. In: L Bernstein, F Rohr, J Helm (eds). Nutritional Treatment of Inherited Metabolic Diseases: Lessons from Metabolic University. pp. 203-210. New York, NY: Springer Publishing Company
• Van Hove JKL, Hennermann J, Coughlin CR 2nd. Nonketotic hyperglycinemia (Glycine Encephalopathy). In: Saudubray JM, Baumgartner MR &Walter JH (eds). Inherited Metabolic Diseases – Treatment and Outcome 6th Ed. (Submitted to editor, September 2015)
• Larson A, Stence NV, Coughlin CR 2nd, Thomas JA, Gallagher RC, Collins A, Van Hove JKL. Improvement of the pathological findings on magnetic resonance imaging of the brain with the use of ketogenic diet for pyruvate dehydrogenase complex deficiency. Presented at the 38th Annual Meeting of The Society of Inherited Metabolic Diseases, March 2015, Salt Lake City, Utah (Poster). Molecular Genetics and Metabolism 2015 March; 114(3):356.
• Stence N, Fenton L, Coughlin C, Van Hove J. Predictable Progression of Restricted Diffusion in Nonketotic Hyperglycinemia. Presented at the American Society of Neuroradiology 53rd Annual Meeting, April 2015, Chicago, Illinois (Platform)
• Coughlin 2nd CR, van Karnebeek CDM, Jaggumantri S, Al-Hertani W, Shuen AY, Jack RM, Gaughan S, Burns C, Gallagher RC, Mirsky DM, Van Hove JLK. Triple therapy (Arginine fortification + Lysine Restricted Diet + Pyridoxine) for pyridoxine dependent epilepsy. Presented at the Garrod Symposium, May 2015, Vancouver, BC (Platform)
• Jaggumantri S, Coughlin C, Stockler S, Barb C, Mary C, Van Hove J, van Karnebbek C. 2015 update on triple therapy for pyridoxine-dependent epilepsy. Presented at the 50th Annual Congress of the Canadian Neurologic Sciences Federation, June 2015, Toronto, Ontario (Platfrom). Candian Journal of Neurological Sciences. May 2015; 42(S1):S13.
• Ferdinandusse S, Friederich MW, Burlina A, Ruiter JPN, Coughlin CR 2nd, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Elpeleg O, Gowan K, Chatfield K, Van Hove JLK, Wanders RJA. Clinical and biochemical characterization of four patients with mutations in ECHS1. Presented at the 47th annual European Metabolic Group conference, June 2015, Venice, Italy (Poster)
• Scalais E, Weitzel C, De Meirleir L, Martens G, Shaikh T, Coughlin CR 2nd, Yu HC, Swanson M, Friederich M, Scharer G, Helbling D, Wendt-Andrea J, Acquaviva-Bourdain C, Van Hove J. Cobalamin X (HCFC1 deficiency) mimicking nonketotic hyperglycinemia (NKH) with increased CSF glycine and methylmalonic acid. Presented at the Society for the Study of Inborn Errors of Metabolism, September 2015, Lyon, France (Poster)
• Faucett A, Rashkin M, Brothers K, Coughlin C, Hercher L, Hudgins L, Jamal S, Levy H, Peay H, Roche M, Savage Stosic M, Smith M, Uhlmann W, Wain K, Ormond K. Preliminary Discussions in the Development of Recommendation for Ordering Clinicians with Minimal Genetics Background: intro to the Consent and Disclosure Recommendations (CADRe) committee. Presented at the National Society of Genetic Counselors 34th Annual Education Conference. October 2015, Pittsburgh, PA (Poster)
• Nguyen TP, Karimpour-Fard A, Coughlin CR 2nd, Chatfield KC. MicroRNAs as a Marker of Cardiovascular Disease in Marfan Syndrome and Marfan-related Disorders. Presented at the National Society of Genetic Counselors 34th Annual Education Conference. October 2015, Pittsburgh, PA (Poster)
• Yu HC, Coughlin CR 2nd, Geiger EA, Elias ER, Cavanaguh JL, Miyamoto SD, Shaikh TH. Discovery of a deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion, uncovers a recessive condition characterized by severe congenital heart defects. Presented at 65th Annual Meeting of The American Society of Human Genetics. October 2015, Baltimore, MD (Poster)
• 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. 2016 Nov 10. [Epub ahead of print] PubMed PMID: 27832417
• 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
• 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. PubMed PMID: 27148590
• van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S. Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. Pediatr Neurol. 2016 Jun;59:6-12. PubMed PMID: 26995068
• Swanson MA, Coughlin CR Jr, 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. PubMed PMID: 26969502
• 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 Mar;170:234-9. PubMed PMID: 26749113
• 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. PubMed PMID: 26689745
• Scalais E, Osterheld E, Weitzel C, De Meirleir L, Mataigne F, Martens G, Shaikh T, Coughlin CR II, Yu HC, Swanson M, Friederich M, Scharer G, Helbling D, Wendt-Andrea J, Van Hove J. Coblamain X (HCFC1 deficiency) mimicking nonketotic hyperglcinemia (NKH) with increased CSF glycine, methylmalonic acid. Pediatric Neurology. Accepted 4 Dec 2016
• Friderich MW, Erdogan AJ, Coughlin CR 2nd, Elos M, Jiang H, O’Rourke C, Lovell M, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector E, Van Hove JLK, Riemer J. Mutations in accessory subunit NDUFB10 result in isolated complex I deficiency due to incomplete assembly of complex I holoenzyme. Hum Mol Genet. Accepted 12 Dec 2016
• Waisbren SE, Gropman AL, Members of the Urea Cycle Consortium, Batshaw ML. Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. J Inherit Metab Dis. 2016 Jul; 39(4):573-84. PMID 27215558 (I am one of 25 collaborators listed)
• Van Hove JKL, Hennermann J, Coughlin CR 2nd. (2016) Nonketotic hyperglycinemia (glycine encephalopathy) and lipoate deficiency disorders. In: Saudubray JM, Baumgartner MR &Walter JH (eds). Inherited Metabolic Diseases – Treatment and Outcome 6th Ed. pp. 349-356. Berlin, Heidelberg, Springer-Verlag Publishing Company.
• Coughlin CR II, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Kure S, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Scharer GH, Van Hove JLK. The genotypic spectrum of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Presented at the ACMG Annual Clinical Genetic Meeting. March 2016, Tampa, Florida (Platform)
• Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Kure S, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen J, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vinaey-Saban C, Scharer GH, Van Hove JLK. The genotypic spectrum of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Presented at the 39th Annual Meeting of the Society for Inherited Metabolic Disorders. April 2016, Ponte Vedra Beach, Florida (Platform) Mol Genet Metab 2016 Mar;117:236.
• Woontner M, Goodman S, Schlichting L, Hawkins M, Noll L, Weisfeld-Adams J, Coughlin C 2nd. A patient with hyper-beta-alaninemia. Presented at the 39th Annual Meeting of the Society for Inherited Metabolic Disorders. April 2016, Ponte Vedra Beach, Florida (Poster) Mol Genet Metab, 2015 Mar 117; 294.
• Chen MA, Wortmann SB, Tiller GE, Wevers RA, Botto LD, Coughlin CR, Descartes M, Kyriss M, Maranda B, Pitt J, Potente C, Rodenburg R, Srirangan S, van Settend P, Thomas J, Vockley G, Waters PJ, Weber JL, White SM. Phenotypic Variability in UMPS Heterozygotes with Orotic Aciduria. Presented at the 39th Annual Meeting of the Society for Inherited Metabolic Disorders. April 2016, Ponte Vedra Beach, Florida (Poster) Mol Genet Metab 2016 Mar;117:250.
• Ormond K, Hallquist M, Buchanan A, Cho M, Kaufman D, Brothers K, Coughlin CR 2nd, Hercher L, Hudgins L, Jamal S, Levy H, Peay H, Roche M, Savage Stosic M, Smith M, Uhlmann W, Wain K, Faucett A. Development of Recommendations for Ordering Clinicians with Minimal Genetics Background from the ClinGen Consoritum Consent and Disclosure Recommendations (CARDe) Committee. Presented at the European Meeting on Psychosocial Aspects of Genetics. May 2016, Barcelona, Spain (Platform)
• Larson A, Freidrich M, Coughlin CR 2nd, Van Hove JLK. 9032T>C is a new pathogenic variant in mtDNA resulting in impaired assembly of complex V. Presented at Mitochondrial Medicine 2016, June 2016, Seattle, WA (Poster)
• Faucett WA, Hallquist M, Buchanan A, Cho M, Kaufman D, Brothers K, Coughlin CR 2nd, Hercher L, Hudgins L, Jamal S, Levy H, Peay H, Roche M, Stosic M, Smith M, Uhlmann, Wain K, Ormond KE. The ClinGen CADRe Rubric: Developing Communication Strategies for Actionable Genes. Presented at the 2016 ClinGen/DECIPHER conference. June 2016, Cambridge, England (Poster)
• Faucett WA, Hallquist M, Buchanan A, Cho M, Brothers K, Coughlin CR 2nd, Hercher L, Hudgins L, Jamal S, Levy H, Peay H, Roche M, Stosic M, Smith M, Uhlmann W, Wain K, Ormond KE. Development of tools to determine communication strategies for actionable gens from ClinGen’s CARDe working group. Presented at the National Society of Genetic Counselors 35th Annual Education Conference. Sept-Oct 2016, Seattle, WA. (Poster)
• Faucett WA, Hallquist M, Buchanan A, Cho M, Brothers K, Coughlin CR 2nd, Hercher L, Hudgins L, Jamal S, Levy H, Peay H, Roche M, Stosic M, Smith M, Uhlmann W, Wain K, Ormond KE. Genetic testing for hereditary cancer predisposition: Can a targeted discussion with a non-genetics clinician provide adequate consent? Presented at the National Society of Genetic Counselors 35th Annual Education Conference. Sept-Oct 2016, Seattle, WA. (Poster)
• Larson AA, Quintana AM, Yu HC, Geiger EA, Hernandez JA, Stence NV, Kuzniecky RI, Shaikh TH, Coughlin CR 2nd, Meeks NJL. Mutations in RALGAPB cause seizures, intellectual disability and cortical malformations. Presented at the 66th Annual Meeting of The American Society of Human Genetics, October 2016, Vancouver, Canada. (Poster)
• Hallquist M, Buchanan A, Faucett WA, Cho M, Brothers K, Coughlin CR 2nd, Hercher L, Hudgins L, Jamal S, Levy H, Peay H, Roche M, Stosic M, Smith M, Uhlmann W, Wain K, Ormond KE. Determining critical communication issues for the genetic testing process. Presented at the 66th Annual Meeting of The American Society of Human Genetics, Oct 2016, Vancouver, Canada (Poster)
• Jaggumantri S, Coughlin CR, Al-Hertani W, Shuen, A, Jack RM, Burns C, Mirsky D, Gallagher R, van Karnebeek C, Van Hove J. Triple therapy (Arginine fortification + Lysine Restricted Diet + Pyridoxine) for pyridoxine dependent epilepsy. Presented at the 66th Annual Meeting of The American Society of Human Genetics, October 2016, Vancouver, Canada. (Poster)
• Mostovoy Y, Levy-Sakin M, Lam J, Lam ET, Hastie AR, Marks P, Lee J, Chu C, Lin C, Džakula Z, Cao H, Schlebusch SA, Giorda K, Schnall-Levin M, Wall JD, Meeks NJL, Chatfield KC, Coughlin CR II, Shaikh TH, Kwok P. A hybrid approach for de novo human genome sequence assembly, phasing, and detection of complex structural variation. Presented at the 66th Annual Meeting of The American Society of Human Genetics, Oct 2016, Vancouver, Canada. (Platform)
• Reyes N, Yu HC, Coughlin II C, Shaikh T, Herenandez J, Quintana A. Mutations in GABRA1 cause multiple congenital anomaly syndrome characterized by a severe seizure phenotype. Presented at the Summer 2016 COURI Symposia, August, 2016, El Paso, Texas (Poster)
• Reyes N, Yu HC, Coughlin II C, Shaikh T, Herenandez J, Quintana A. Mutations in GABRA1 cause multiple congenital anomaly syndrome characterized by a severe seizure phenotype. Presented at the Annual Biomedical Research Conference for Minority Students, November 2016, Tampa, Florida (Platform)
• 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
• Scalais E, Osterheld E, Weitzel C, De Meirleir L, Mataigne F, Martens G, Shaikh TH, Coughlin CR 2nd, 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. PubMed PMID: 28363510
• 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
• Friederich MW, Erdogan AJ, Coughlin CR 2nd, 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 Feb 15;26(4):702-716. PubMed PMID: 28040730
• 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 Jan;40(1):159-160. PubMed PMID: 27832417
• 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. 2017 Jan;19(1):104-111. PubMed PMID: 27362913
• Hennermann JB, Van Hove JKL, Coughlin CR 2nd (2018). Glycine Encephalopathy and epilepsy. In Pearl PL (ed). Inherited Metabolic Epilepsies – Second Edition. pp. 353-363. New York, N.Y: Demos Medical Publishing - Springer Publishing Company.
• Reyes-Nava N, Yu HC, Coughlin CR 2nd, Shaikh TH, Herenandez JA, Quintana AM. Functional analysis of GABRA1 in zebrafish. Presented at the 3rd Border Biomedical Research Center Symposium, September 2017, El Paso, TX (Poster)
• 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
• Ormond KE, Hallquist MLG, Buchanan AH, Dondanville D, Cho MK, Smith M, Roche M, Brothers KB, Coughlin CR 2nd, 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. 2018 Jul 6. [Epub ahead of print] PubMed PMID: 29976988
• 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 Sep;20(9):1098. 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. 2018 Feb;79:e1. PubMed PMID: 29239742
• 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 Jul;41(4):657-667. PubMed PMID: 29423830
• Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Ah Mew N, Batshaw ML, Baumgartner MR, McCandless S, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases. J Inherit Metab Dis. 2018 Jul 4. [Epub ahead of print] PubMed PMID: 29974348
• Hennermann JB, Van Hove JKL, Coughlin CR 2nd (2018). Glycine Encephalopathy and epilepsy. In Pearl PL (ed). Inherited Metabolic Epilepsies – Second Edition. pp. 353-363. New York, N.Y: Demos Medical Publishing - Springer Publishing Company.
• Stence NV, Fenton LZ, Palmer C, Tong S, Coughlin CR 2nd, Hennermann J, Wortmann SB, Van Hove JLK. Brain imaging in classic nonketotic hyperglycinemia. Presented at the Annual Meeting of the Society for Inherited Metabolic Disorders, Mar 2018, San Diego, California. (Poster) Mol Genet Metab 2018 Mar;123:266-7.
• Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJ, Kronquist K, Tsai BP, Strom SP, Gao H, Nagy P, Hyland K, van Dooren SJ, Salomons GS, Van Hove JLK. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy. Presented at the Annual Meeting of the Society for Inherited Metabolic Disorders, Mar 2018, San Diego, California. (Poster) Mol Genet Metab 2018 Mar;123:224.
• Hallquist MLG, Ormond KE, Tricou EP, Faucett WA, Brothers K, Coughlin CR 2nd, Hercher L, Hudgins L, Levy H, Peay H, Roche M, Stosic M, Smith M, Uhlmann W, Wain K, Buchanan AH. Consent for genetic testing and disclosure of results: Shifting the paradigm to non-genetics clinicians. Presented at the Annual American College of Medical Genetics Clinical Genetics Meeting, Apr 2018, Charlotte, North Carolina. (Platform)
• Reyes-Nava N, Yu HC, Coughlin CR 2nd, Shaikh TH, Quintana AM. Knockdown of the zebrafish orthologue of GABRA1 results in absence seizures. Presented at the Society for Developmental Biology 77th Annual Meeting, July 2018, Portland, Oregon. (Poster)
• Castellanos BS, Coughlin C 2nd, Yu HC, Shaikh TH, Quintana AM. Using zebrafish as a model to understand the role of HSPG2 in early craniofacial development. Presented at the Society for Developmental Biology 77th Annual Meeting, July 2018, Portland, Oregon (Poster)
• Yilmaz F, Mostovoy Y, Geiger EA, Meeks NJL, Chatfield KC, Coughlin CR 2nd, Kwok P, Shaikh TH. A next-generation mapping approach for the assembly and detection of structural variation within genomic regions containing complex segmental duplications. Presented at the Annual Meeting of the American Society of Human Genetics, Oct 2018, San Diego, California (Poster)
• 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 CR 2nd, 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 4 [Epub ahead of print].
• Coughlin CR 2nd. Pyridoxine-dependent epilepsy is more than just epilepsy. Dev Med Child Neurol. 2019 Nov 25. [Epub ahead of print] PubMed PMID: 31763687
• Faucett WA, Peay H, Coughlin CR 2nd. Genetic Testing: Consent and Result Disclosure for Primary Care Providers. Med Clin North Am. 2019 Nov;103(6):967-976. PubMed PMID: 31582007
• 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 Sep;29(9):1389-1401. PubMed PMID: 31481461
• Berry SA, Coughlin CR 2nd, McCandless S, McCarter R, Seminara J, Yudkoff M, LeMons C. Developing interactions with industry in rare diseases: lessons learned and continuing challenges. Genet Med. 2019 Jul 24. [Epub ahead of print] PubMed PMID: 31337884
• Van Hove JLK, Coughlin C II, Swanson M, Hennermann JB. Nonketotic Hyperglycinemia. . 1993. PubMed PMID: 20301531
• Stence NV, Fenton LZ, Levek C, Tong S, Coughlin CR 2nd, 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. PubMed PMID: 30737808
• Wempe MF, Kumar A, Kumar V, Choi YJ, Swanson MA, Friederich MW, Hyland K, Yue WW, Van Hove JLK, Coughlin CR 2nd. Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening. J Inherit Metab Dis. 2019 May;42(3):565-574. PubMed PMID: 30663059
• 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. 2019 Mar;42(2):353-361. PubMed PMID: 30043187
• Ormond KE, Hallquist MLG, Buchanan AH, Dondanville D, Cho MK, Smith M, Roche M, Brothers KB, Coughlin CR 2nd, 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 Mar;21(3):727-735. PubMed PMID: 29976988
• Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless SE, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases. J Inherit Metab Dis. 2019 Jan;42(1):93-106. PubMed PMID: 30740724
• Buerger C, Garbade SF, Dietrich Alber F, Waisbren SE, McCarter R, Kölker S, Burgard P. Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events. J Inherit Metab Dis. 2019 Mar;42(2):243-253. PubMed PMID: 30671983
• Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Ann Neurol. 2019 Jul;86(1):116-128. PubMed PMID: 31018246
• Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD, Milosavljevic A, Lee BH, Elsea SH. Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 Sep;21(9):1977-1986. PubMed PMID: 30670878
• Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R. Early prediction of phenotypic severity in Citrullinemia Type 1. Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. PubMed PMID: 31469252
• Coughlin CR 2nd. Ethics of Genetic Research. In: Ragin & Keenan (eds). Handbook of Research Methods in Health Psychology. pp.***. Routledge Publishing - A Taylor & Francis Publishing Company.
• Van Hove JLK, Coughlin CR 2nd, Swanson MA. Disorders of glycine metabolism. In Blau N, Dionisi-Vici C, Ferreira C, Vianey-Saban C & van Karnebeek C (eds). Physician’s Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases. pp***. Berlin, Heidelberg, Springer-Verlag Publishing Company
• Reyes-Nava, Yu HC, Coughlin CR 2nd, Shaikh TH, Quintana AM. Gabra1 disrupts normal brain development in a zebrafish model of hypomotility. Presented at the Southwest Regional Society for Developmental Biology Meeting, March 2019, Denver, Colorado. (Poster)
• Tseng LA, Gospe SM Jr, Aziz VG, Bok LA, Hartmann H, Kurlemann G, Coughlin CR 2nd, van Karnebeek CD, Pyridoxine-dependent epilepsy in adulthood. Presented at Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Sept 2019, Rotterdam, The Netherlands. (Poster)
• 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 Sep;20(9):1098. 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. 2018 Feb;79:e1. PubMed PMID: 29239742
• 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 2nd, 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 Sep;43(5):1024-1036. PubMed PMID: 32160317
• Coughlin CR 2nd, 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 Jr, 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. 2020 Nov 16. [Epub ahead of print] PubMed PMID: 33200442
• Moore JM, Glover JJ, Jackson BM, Coughlin CR 2nd, Kelsey MM, Inge TH, Boles RE. Development and application of an ethical framework for pediatric metabolic and bariatric surgery evaluation. Surg Obes Relat Dis. 2020 Sep 16. [Epub ahead of print] PubMed PMID: 33191162
• 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). PubMed PMID: 33081139
• Reyes-Nava NG, Yu HC, Coughlin CR 2nd, Shaikh TH, Quintana AM. Abnormal expression of GABA(A) receptor subunits and hypomotility upon loss of gabra1 in zebrafish. Biol Open. 2020 Apr 13;9(4). PubMed PMID: 32205311
• 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 2nd, 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 Sep;43(5):1024-1036. PubMed PMID: 32160317
• Coughlin CR 2nd. Pyridoxine-dependent epilepsy is more than just epilepsy. Dev Med Child Neurol. 2020 Mar;62(3):268. PubMed PMID: 31763687
• Burrage LC, Madan S, Li X, Ali S, Mohammad M, Stroup BM, Jiang MM, Cela R, Bertin T, Jin Z, Dai J, Guffey D, Finegold M, Members of the Urea Cycle Disorders Consortium (UCDC), Nagamani S, Minard CG, Marini J, Masand P, Schady D, Shneider BL, Leung DH, Bali D, Lee B. Chronic liver disease and impaired hepatic glycogen metabolism in arginosuccinate lyase deficiency. JCI Insight. 2020 Feb 27;5(4):e132342. PMID: 31990680
• Posset R, Garbade SF, Gleich F, Gropman AL, de Lonlay P, Hoffmann GF, Garcia-Cazorla A, Nagamani SCS, Baumgartner MR, Schulze A, Dobbelaere D, Yudkoff M, K?lker S, Zielonka M, Urea Cycle Disorders Consortium (UCDC), European registry and network for Intoxication type Metabolic Diseases (E-IMD). Long-term effects of medical management on growth and weight in individuals with urea cycle disorders. Sci Rep. 2020 Jul 20;10(1):11948. PMID: 32686765
• Coughlin CR 2nd (2020) Ethics of Genetic Research. In: Ragin & Keenan (eds). Handbook of Research Methods in Health Psychology. pp. 99-113. Routledge Publishing - A Taylor & Francis Publishing Company.
• Van Hove JLK, Coughlin CR 2nd, Swanson MA. Disorders of glycine metabolism. In Blau N, Dionisi-Vici C, Ferreira C, Vianey-Saban C & van Karnebeek C (eds). Physician’s Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases. Berlin, Heidelberg, Springer-Verlag Publishing Company. Expected publication date 2020
• Woontner M, Coughlin C 2nd, Goodman S. Novel biomarkers of late-onset ornithine transcarbamylase deficiency. Presented at the 42nd Annual Meeting of the Society for Inherited Metabolic Disorders, Apr 2020, Austin, Texas. (Poster)
• Ormond K, Borenzstein, M, Buchanan A, Cho M, Coughlin CR 2nd, Faucett A, Hallquist M, Peay H, Smith M, Stosic M, Tricou E, Uhlmann W, Wain K. Targeted consent discussions for genetic testing – a consensus study to define relevant elements. Presented at the 5th ELSI Congress, June 2020, New York, New York. (Flash presentation)
• Ormond KE, Borenzstein M, Buchanan AH, Faucett WA, Hallquist MLG, Peay HL, Smith ME, Tricou EP, Uhlmann WR, Wain K, Coughlin CR 2nd. Critical components of informed consent for genetic testing: Results of a Delphi Consensus process. Presented at the European Human Genetics Conference, June 2020, Berlin, Germany. (Oral Presentation).
• Borensztein M, Hallquist M, Coughlin CR 2nd, Buchanan A, Faucett WA, Peay H, Smith ME, Tricou E, Uhlmann W, Wain K, Ormond KE. Defining the critical components of informed consent for genetic testing. Presented at the National Society of Genetic Counselors 39th Annual Education Conference. Nov 2020, Nashville, Tennessee. (Poster)
• Kripps KA, Baker PR 2nd, Thomas JA, Skillman HE, Bernstein L, Gaughan S, Burns C, Coughlin CR 2nd, 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 Jul;133(3):231-241. PubMed PMID: 33985889
• Van Hove JLK, Thomas JA, McCandless SE, Woontner M, Coughlin C. In Memoriam. J Inherit Metab Dis. 2021 Jan;44(1):286-287. PubMed PMID: 33354834
• 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 Feb 9;217(2). PubMed PMID: 33724415
• Strijker M, Tseng LA, van Avezaath LK, Oude Luttikhuis MAM, Ketelaar T, Coughlin CR 2nd, 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. PubMed PMID: 34153871
• Kripps KA, Baker PR 2nd, Thomas JA, Skillman HE, Bernstein L, Gaughan S, Burns C, Coughlin CR 2nd, 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 Jul;133(3):231-241. PubMed PMID: 33985889
• 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 Feb 9;217(2). PubMed PMID: 33724415
• Hallquist MLG, Tricou EP, Ormond KE, Savatt JM, Coughlin CR 2nd, 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 Apr 29;13(1):71. PubMed PMID: 33926532
• Coughlin CR 2nd, 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 Jr, 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 Jan;44(1):178-192. PubMed PMID: 33200442
• Moore JM, Glover JJ, Jackson BM, Coughlin CR 2nd, 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. PubMed PMID: 33191162
• Ormond KE, Borenzstein M, Hallquist MLG, Buchanan AH, Faucett WA, Peay HL, Smith ME, Tricou EP, Uhlmann WR, Wain KE, Coughlin CR 2nd. Defining the critical components of informed consent for genetic testing. J Pers Med. 2021 11(12):1304.
• Lerner S, Eilam R, Adler L, Baruteau J, Kreiser T, Tsoory M, Brandis A, Mehlman T, Ryten M, Botia JA, Garcia Ruiz S, Cisterna Garcia A, Dionisi-Vici C, Ranucci G, Spada M, Mazkereth R, McCarter R, Izem R, Balmat TJ, Richesson R, Members of the UCDC, Gazit E, Nagamani SCS, Erez A. ASL deficiency in ALDH1A1+ neurons in the substantia nigra metabolically promotes neurodegenerative phenotypes. Hum Genet. 2021 Oct;140(10):1471-1485. PMID: 34417872
• Baker II PR, Ables H, Bedoyan J, Feldman G, Keegan C, Lichter-Konecki U, Longo N, McDonald M, Merideth M, Venditti C, Merritt L, Shinawi M, Sutton R, Vernon H, Wilcox W, El-Gharbawy A, Koeller D, Steiner R, Barshop B, Coughlin C II, Koacchar A, Van Hove J, Thomas J, Larson A, McCandless S. Opportunities for fellowship education: The first year of the medical biochemical genetics clinic core seminar series. Presented at the ACMG Annual Clinical Genetics Meeting. April 2021.
• Tseng LA, Abdenur JE, Anderws A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Fooitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, Wijburg FA, Gospe SM Jr, Coughlin CR 2nd, van Karnebeek CDM. Association between early treatment and neurodevelopmental outcome in 18 families with PDE-ALDH7A1. Presented at the 14th International Congress of Inborn Errors of Metabolism. Nov 2021, Sydney, Australia.
• Coughlin CR 2nd, 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 MC, 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 Aug 25. [Epub ahead of print] PubMed PMID: 36008148
• Tseng LA, Teela L, Janssen MC, Bok LA, Willemsen MAAP, Neuteboom RF, Haverman L, Gospe SM Jr, Coughlin CR, van Karnebeek CDM. Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes. Mol Genet Metab Rep. 2022 Jun;31:100853. PubMed PMID: 35782612
• Tseng LA, Hoytema van Konijnenburg EMM, Longo N, Andrews A, van Wegberg A, Coene KLM, Coughlin CR 2nd, van Karnebeek CDM. Clinical Reasoning: Pediatric Seizures of Unknown Cause. Neurology. 2022 Jun 14;98(24):1023-1028. PubMed PMID: 35470136
• Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, Gospe SM Jr, Coughlin CR 2nd, van Karnebeek CDM. Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy. Mol Genet Metab. 2022 Apr;135(4):350-356. PubMed PMID: 35279367
• Coughlin CR 2nd, Tseng LA, van Karnebeek CDM. A case for newborn screening for pyridoxine-dependent epilepsy. Cold Spring Harb Mol Case Stud. 2022 Feb;8(2). PubMed PMID: 35217564
• Van Hove JLK, Coughlin CR 2nd, Swanson MA. (2022) Disorders of glycine metabolism. In Blau N, Dionisi-Vici C, Ferreira CR, Vianey-Saban C & van Karnebeek CDM (eds). Physician’s Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases 2nd edition. pp. 469-478. Berlin, Heidelberg, Springer-Verlag Publishing Company
• Coughlin CR 2nd. Laboratory Evaluations in Inherited Metabolic Diseases. In: L Bernstein, F Rohr, S van Calcar (eds). Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University 2nd edition. pp. 85-96. Cham, Switzerland: Springer Nature.
• Coughlin CR 2nd. Glutaric Aciduria Type I: Diagnosis and Management. In: L Bernstein, F Rohr, S van Calcar (eds). Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University 2nd edition. pp. 277-284. Cham, Switzerland: Springer Nature
• Coughlin CR 2nd. Fatty Acid Oxidation Disorders. In: L Bernstein, F Rohr, S van Calcar (eds). Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University 2nd edition. pp. 309-324. Cham, Switzerland: Springer Nature.
• Micke K, Elfman H, Jones K, Coughlin C, Reynolds R, Larson A, McCandless S, Behrendt N, Galan HL, Zaretsky M. Integrating whole exome sequencing into prenatal care: piloting a multidisciplinary approach. Presented at the 42nd Annual Pregnancy Meeting for the Society for Maternal-Fetal Medicine. Jan-Feb 2022, Orlando, Florida.
• Micke K, Zaretsky M, Elfman H, McCandless S, Larson A, Reynolds R, Coughlin C, Jones K. Piloting a multidisciplinary approach for fetal exome sequencing to optimize yield and patient management. Presented at the 26th International Conference on Prenatal Diagnosis and Therapy. June 2022, Montréal, Canada.
• Khalil Y, Wilson M, Wempe M, Coughlin C, Footitt E, Clayton PT, Mills P. Measurement of urinary 6-oxo-pipecolae in a cohort of ALDH7A1 deficient patients. Presented at the Society for the Study of Inborn Errors of Metabolism Annual Symposium. Aug-Sept 2022. Freiburg, Germany. (Poster Presentation)
• Coughlin C, Tseng L, van Karnebeek C. The time has come for newborn screening for pyridoxine-dependent epilepsy. Presented at the Society for the Study of Inborn Errors of Metabolism Annual Symposium. Aug-Sept 2022. Freiburg, Germany. (Oral Presentation)
• Hallquist MLG, Borensztein MJ, Coughlin CR 2nd, 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 Oct;31(10):1165-1174. PubMed PMID: 37308598
• Houten S, Coughlin CR 2nd. Is it time to start to consider treating the liver in glutaric aciduria type 1?. J Inherit Metab Dis. 2023 Jul;46(4):539-540. PubMed PMID: 37162343
• Coughlin CR 2nd, Gospe SM Jr. Pyridoxine-dependent epilepsy: Current perspectives and questions for future research. Annals of the Child Neurology Society. 2023 March 7. doi:10.1002/cns3.20016
• Lichter-Konecki U, Sanz JH, Urea Cycle Disorders Consortium, McCarter R. Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders. Pediatr Res. 2023 Dec;94(6):2005-2015. PMID: 37454183
• Posset R, Zielonka M, Gleich F, Garbade SF, Hoffmann GF, Kölker S, Urea Cycle Disorders Consortium (UCDC) and European registry and network for intoxication type Metabolic Diseases (E-IMD) Consortia study group. The challenge of understanding and predicting phenotypic diversity in urea cycle disorders. J Inherit Metab Dis, 2023 Nov;46(6):1007-1016. PMID: 377026710
• Murali CN, Barber JR, McCarter R, Zhang A, Gallant N, Simpson K, Dorrani N, Wilkening GN, Hays RD, Lichter-Konecki U, Members of the Urea Cycle Disorders Consortium, Burrage L, Nagamani SCS. Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders. Mol Genet Metab. 2023 Nov;140(3):107696. PMID: 37690181
• Coughlin CR 2nd, Ormond K. Ethical genetic counseling practice. In: Schuette JL, Yashar B, Pan V, Wain K (eds). A guide to Genetic Counseling, 3rd Edition. pp***. Hoboken, NJ: Wiley-Blackwell.
• van Karnebeek C, Tseng L, Bok L, Hartmann, H, Gospe S, Coughlin C. Lysine reduction therapy improves neurocognitive outcomes in pyridoxine-dependent epilepsy. Presented at the European Human Genetics Conference. Jun 2023. Glasgow, Scotland, United Kingdom
• Jackson B, Jones K, Coughlin C, Glover J. Moral distress rounds: Development of a new technique to alleviate moral distress. Presented at the American Society for Bioethics and Humanities 25th Annual Conference, October 2023, Baltimore, MD. (Platform presentation)

Professional Memberships

• National Society of Genetic Counselors, Member
• American Board of Genetic Counselors, Diplomate
• Society for Inherited Metabolic Disorders, Memeber
• American Society for Bioethics + Humanities, Member
• Society for the Study of Inborn Errors of Metabolism, Member

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

Center Affiliations

• Center for Bioethics and Humanities

Specialty Information

Specialties

• Clinical Genetics and Genomics (MD), Board Certification
• Certified Genetic Counselor (CGC), Board Certification (2002)
• Healthcare Ethics Consultant - Certified (HEC-C), Board Certification (2020)