Curtis R. Coughlin - Publications, H-index & Citations

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Curtis R. Coughlin

university of texas system

28H-index

107Paper Count

2.8KCitation Count

Published Papers 40

Publication Date

Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies

Orphanet Journal of Rare Diseases

IF3.5

2026-05-21

OAAI

Nicole Nolen; Annemieke Aartsma-Rus; Christine Caneva; Curtis R. Coughlin II; Margot A. Cousin; Catherine Douthwright; Holm Graessner; Olivia Kim-McManus; Ashley Kuniholm; Stefanie Leonard; Andrea Martinsen; Margaret Meserve; Matthis Synofzik; Booma Yandava; Timothy W. Yu; Scott Demarest; Roger J. Paxton

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New Treatments, Novel Conversations: A Need to Study the Science of Communication about Treatment Options for Inborn Errors of Metabolism

Genetics in Medicine

IF6.2

2026-04-13

PREAI

Emily Shelkowitz; Samantha A. Schrier Vergano; Monica Penon-Portmann; Gailon Wixson; Erika Beckman; Teresa Campbell; Maria R. Mills; Aaina Kochhar; Benjamin S. Wilfond; Amy Trowbridge; Curtis R. Coughlin; Aaron Wightman

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Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders

Journal of Inherited Metabolic Disease

IF3.8

2026-04-09

OAAI

Curtis R. Coughlin II; John Barber; Chaya N. Murali; Members of the Urea Cycle Disorders Consortium (UCDC); Greta Wilkening

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Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology

Database-The Journal of Biological Databases and Curation

IF3.6

2026-01-01

PREAI

Vasilevsky, Nicole; Gehrke, Sarah; Mullen, Kathleen; Barua, Subit; Braun, Ian; Brunger, Tobias; Coughlin II, Curtis; Ivaniuk, Alina; Korn, Daniel; Lal, Dennis; Marsh, Stephanie; O'Loughlin, Elaine; Olson, Daniel; Shwetar, Yousif; Sofocleous, Christalena; Vogel-Farley, Vanessa; Grabenstatter, Heidi; Haendel, Melissa; Mungall, Christopher; Toro, Sabrina

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Drug Delivery Through Placenta and Then Breastmilk for Fetal Cystic Fibrosis: Collateral Benefit and Social Good Do Not Make an Acceptable Risk: Benefit Ratio

american journal of bioethics

IF0

2025-09-18

OAAI

Teri L. Hernandez; Michael V. Zaretsky; Brian M. Jackson; Gianna G. Morales; Curtis R. Coughlin II; David Badesch; Matthew DeCamp

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Feasibility of newborn screening for pyridoxine-dependent epilepsy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-01-01

PREAI

Pauly, Kristine; Woontner, Michael; Abdenur, Jose E.; Chaudhari, Bimal P.; Gosselin, Rachel; Kripps, Kimberly A.; Thomas, Janet A.; Wempe, Michael F.; Gospe Jr, Sidney M.; Coughlin Ii, Curtis R.

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New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse

BRAIN COMMUNICATIONS

IF4.5

2025-01-01

OAAI

van Karnebeek, Clara D. M.; Gailus-Durner, Valerie; Engelke, Udo F.; Seisenberger, Claudia; Marschall, Susan; Dragano, Nathalia R., V; da Silva-Buttkus, Patricia; Leuchtenberger, Stefanie; Fuchs, Helmut; Hrabe de Angelis, Martin; Wevers, Ron A.; Coughlin, Curtis R.; Lefeber, Dirk J.

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Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2023-06-12

OAAI

Hallquist, Miranda L. G.; Borensztein, Maia J. J.; Coughlin, Curtis R. R.; Buchanan, Adam H. H.; Faucett, W. Andrew; Peay, Holly L. L.; Smith, Maureen E. E.; Tricou, Eric P. P.; Uhlmann, Wendy R. R.; Wain, Karen E. E.; Ormond, Kelly E. E.

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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-04-01

OAAI

Tseng, Laura A.; Abdenur, Jose E.; Andrews, Ashley; Aziz, Verena G.; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Hartmann, Hans; Footitt, Emma J.; Gronborg, Sabine; Janssen, Mirian C. H.; Longo, Nicola; Lunsing, Roelineke J.; MacKenzie, Alex E.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; Coughlin, Curtis R., II; van Karnebeek, Clara D. M.

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Defining the Critical Components of Informed Consent for Genetic Testing

JOURNAL OF PERSONALIZED MEDICINE

IF3

2021-12-05

OAAI

Ormond, Kelly E.; Borensztein, Maia J.; Hallquist, Miranda L. G.; Buchanan, Adam H.; Faucett, William Andrew; Peay, Holly L.; Smith, Maureen E.; Tricou, Eric P.; Uhlmann, Wendy R.; Wain, Karen E.; Coughlin, Curtis R.

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REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-07-01

OAAI

Kripps, Kimberly A.; Baker, Peter R., II; Thomas, Janet A.; Skillman, Heather E.; Bernstein, Laurie; Gaughan, Sommer; Burns, Casey; Coughlin, Curtis R., II; McCandless, Shawn E.; Larson, Austin A.; Kochar, Aaina; Stillman, Chelsey F.; Wymore, Erica M.; Hendricks, Ellie G.; Woontner, Michael; Van Hove, Johan L. K.

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Development and application of an ethical framework for pediatric metabolic and bariatric surgery evaluation

SURGERY FOR OBESITY AND RELATED DISEASES

IF3.8

2021-02-01

OAAI

Moore, Jaime M.; Glover, Jacqueline J.; Jackson, Brian M.; Coughlin, Curtis R., II; Kelsey, Megan M.; Inge, Thomas H.; Boles, Richard E.

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Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation

GENETICS

IF5.1

2021-01-06

OAAI

Mostovoy, Yulia; Yilmaz, Feyza; Chow, Stephen K.; Chu, Catherine; Lin, Chin; Geiger, Elizabeth A.; Meeks, Naomi J. L.; Chatfield, Kathryn C.; Coughlin, Curtis R.; Surti, Urvashi; Kwok, Pui-Yan; Shaikh, Tamim H.

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Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey

NUTRIENTS

IF5

2020-10-16

OAAI

Bernstein, Laurie; Coughlin, Curtis R.; Drumm, Morgan; Yannicelli, Steven; Rohr, Fran

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Developing interactions with industry in rare diseases: lessonslearned and continuing challenges

GENETICS IN MEDICINE

IF6.2

2020-01-01

OAAI

Berry, Susan A.; Coughlin, Curtis R., II; McCndaless, Shawn; McCarter, Robert; Seminara, Jennifer; Yudkoff, Mark; LeMons, Cynthia

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Pyridoxine-dependent epilepsy is more than just epilepsy

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

IF4.3

2019-11-25

OAAI

Coughlin, Curtis R., II

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Genetic Testing Consent and Result Disclosure for Primary Care Providers

MEDICAL CLINICS OF NORTH AMERICA

IF4.2

2019-11-01

OAAI

Faucett, W. Andrew; Peay, Holly; Coughlin, Curtis R., II

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The 22q11 low copy repeats are characterized by unprecedented size and structural variability

GENOME RESEARCH

IF5.5

2019-09-03

OAAI

Demaerel, Wolfram; Mostovoy, Yulia; Yilmaz, Feyza; Vervoort, Lisanne; Pastor, Steven; Hestand, Matthew S.; Swillen, Ann; Vergaelen, Elfi; Geiger, Elizabeth A.; Coughlin, Curtis R.; Chow, Stephen K.; McDonald-McGinn, Donna; Morrow, Bernice; Kwok, Pui-Yan; Xiao, Ming; Emanuel, Beverly S.; Shaikh, Tamim H.; Vermeesch, R-is R.

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Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

GENETICS IN MEDICINE

IF6.2

2019-03-01

OAAI

Ormond, Kelly E.; Hallquist, Miranda L. G.; Buchanan, Adam H.; Dondanville, Danielle; Cho, Mildred K.; Smith, Maureen; Roche, Myra; Brothers, Kyle B.; Coughlin, Curtis R., II; Hercher, Laura; Hudgins, Louanne; Jamal, Seema; Levy, Howard P.; Raskin, Misha; Stosic, Melissa; Uhlmann, Wendy; Wain, Karen E.; Currey, Erin; Faucett, W. Andrew

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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT (vol 19, pg 104, 2017)

GENETICS IN MEDICINE

IF6.2

2018-09-01

OAAI

Coughlin, Curtis R., II; Swanson, Michael A.; Kronquist, Kathryn; Acquaviva, Cecile; Hutchin, Tim; Rodriguez-Pombo, Pilar; Vaisanen, Marja-Leena; Spector, Elaine; Creadon-Swindell, Geralyn; Bras-Goldberg, Ana M.; Rahikkala, Elisa; Moilanen, Jukka S.; Mahieu, Vincent; Matthijs, Gert; Bravo-Alonso, Irene; Perez-Cerda, Celia; Ugarte, Magdalena; Vianey-Saban, Christine; Scharer, Gunter H.; Van Hove, Johan L. K.

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Research Directions