Curtis Coughlin, PhD, MBe, MS
Associate Professor, Pediatrics-Clinical Genetics and Metabolism

Professional Titles

• Genetic Counselor
• Healthcare Ethics Consultant

Recognition & Awards

• 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

Teaching

Publications

• 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
• 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)
• 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)
• 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
• 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.
• 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.
• 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)
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• Van Hove JLK, Coughlin C II, Swanson M, Hennermann JB. Nonketotic Hyperglycinemia. . 1993. PubMed PMID: 20301531
• 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
• 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.
• 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.

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