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D

Dwight D. Koeberl

Cincinnati Children's Hospital Medical Center

43H-index
211Paper Count
6.2KCitation Count
Published Papers 122
Publication Date
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Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing
errMOLECULAR GENETICS AND METABOLISM REPORTS
IF1.9
err2025-11-01
err0
errOAAI
errMenkovic, Iskren; Makhijani, Neelam; Francescatto, Ludmila; Pendyal, Surekha; Stanley, Christine; Young, Sarah P.; Koeberl, Dwight D.; Niyazov, Dmitriy; Stiles, Ashlee R.
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Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study
errPediatric Neurology
IF2.1
err2025-11-01
err0
errOAAI
errMiller, Judith S.; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A.; Becker, Lindsey; Bennett, Amanda E.; Berry, Leandra N.; Berry-Kravis, Elizabeth M.; Bruchey, Aleksandra; Byars, Anna W.; Cimms, Tricia; Cecil, Kim M.; Covello, Maxine; Cubit, Laura S.; Das, Tanvi; Davis, Robert J.; Drye, Madison; Ficicioglu, Can; Fulton, John B.; Goin-Kochel, Robin P.; Guthrie, Whitney; Hallinan, Barbara E.; Hannah-Shmouni, Fady; Gustafson, Kathryn E.; Koeberl, Dwight D.; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D.; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A.; Stone, Caitlin; Sullivan, Nancy R.; Sutton, V. Reid; Thomas, Rebecca P.; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
errNature Genetics
IF29
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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Efficacious genome editing in infant mice with glycogen storage disease type Ia
errJCI INSIGHT
IF6.1
err2025-09-23
err0
errOAAI
errArnson, Benjamin; Ilich, Ekaterina; von Beck, Troy; Li, Songtao; Brooks, Elizabeth D.; Gheorghiu, Dorothy; He, Gordon; Weinrub, Matthew; Chan, Sze Ying; Kang, Hye-Ri; Courtney, David; Everitt, Jeffrey I.; Cullen, Bryan R.; Koeberl, Dwight D.
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errSave
Developing Therapeutics for Rare Cardiovascular Diseases
errAmerican Heart Journal
IF3.5
err2025-09-12
err0
PREAI
errJoseph B Lerman; Dwight D. Koeberl; Shilpi Epstein; Lothar Roessig; Rodica Stan; Meghan Halley; Anjali T. Owens; Barry Greenberg; Kevin M. Alexander; Sharlene M. Day; Mathew S. Maurer; Eric D. Adler; Adrian F. Hernandez; Euan A Ashley; G. Michael Felker
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Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction (vol 144, 109049, 2025)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-05-01
err0
PREAI
errBelle, Kinsley; Kreymerman, Alexander; Young, Jill L.; Vadgama, Nirmal; Ji, Marco H.; Randhawa, Sandeep; Caicedo, Juan; Wong, Megan; Muscat, Stephanie P.; Gifford, Casey A.; Lee, Richard T.; Nasir, Jamal; Enns, Gregory M.; Karakikes, Ioannis; Schaefer, Andrew M.; Taylor, Robert W.; Mercola, Mark; Koeberl, Dwight; Wood, Edward H.
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errSave
Genetic analysis and multimodal imaging confirm m.12148 T> C mitochondrial variant pathogenicity leading to multisystem dysfunction
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-03-01
err0
PREAI
errBelle, Kinsley; Kreymerman, Alexander; Young, Jill L.; Vadgama, Nirmal; Ji, Marco H.; Randhawa, Sandeep; Caicedo, Juan; Wong, Megan; Muscat, Stephanie P.; Gifford, Casey A.; Lee, Richard T.; Nasir, Jamal; Enns, Gregory M.; Karakikes, Ioannis; Schaefer, Andrew M.; Taylor, Robert W.; Mercola, Mark; Koeberl, Dwight; Wood, Edward H.
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errSave
A case study of inclusion of rural populations in research: Implications for science and health equity
errCTS-CLINICAL AND TRANSLATIONAL SCIENCE
IF2.8
err2024-08-01
err0
errOAAI
errNoonan, Devon; Lam, Wendy K. K.; Goodrich, James; Sullivan, Sydney; Bentley-Edwards, Keisha; Koeberl, Dwight; Palipana, Anushka; Mcclernon, F. Joseph
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errSave
The attenuated hepatic clearance of propionate increases cardiac oxidative stress in propionic acidemia
errBASIC RESEARCH IN CARDIOLOGY
IF8
err2024-07-11
err0
PREAI
errWang, You; Zhu, Suhong; He, Wentao; Marchuk, Hannah; Richard, Eva; Desviat, Lourdes R.; Young, Sarah P.; Koeberl, Dwight; Kasumov, Takhar; Chen, Xiaoxin; Zhang, Guo-Fang
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errSave
Fasting alleviates metabolic alterations in mice with propionyl-CoA carboxylase deficiency due to Pcca mutation
errCOMMUNICATIONS BIOLOGY
IF5.1
err2024-05-29
err2
errOAAI
errHe, Wentao; Marchuk, Hannah; Koeberl, Dwight; Kasumov, Takhar; Chen, Xiaoxin; Zhang, Guo-Fang
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errSave
Genome editing for glycogen storage disease type 1A
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errKoeberl, Dwight D.
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errSave
Critical sample collection delayed? Urine organic acid analysis can still save the day!
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errStiles, Ashlee; Williams, Monika; Menkovic, Iskren; Reitnauer, Pamela; Gilbert, Eileen; Koeberl, Dwight; Young, Sarah
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errSave
Improvement of hypertrophic cardiomyopathy in Gaac.1826dupA knock-in murine model with neonatal gene therapy
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err0
PREAI
errKan, Shih-hsin; Harb, Jerry F.; Li, Songtao; Dalton, Nancy D.; Padilla, Alejandra; Christensen, Chloe; Rha, Allisandra; Andrade-Heckman, Perla; Chan, Yunghang; Torres, Evelyn; Koeberl, Dwight D.; Wang, Raymond Y.
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errSave
Exploring Pompe disease: Insights into the natural history of novel Gaac.1826dupA knock-in murine model
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err0
PREAI
errHarb, Jerry F.; Kan, Shih-hsin; Dalton, Nancy D.; Padilla, Alejandra; Christensen, Chloe; Rha, Allisandra K.; Andrade-Heckman, Perla; Chan, Yunghang; Torres, Evelyn; Wang, Raymond Y.; Koeberl, Dwight D.
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Phase I study of liver depot gene therapy in late-onset Pompe disease
errMOLECULAR THERAPY
IF12
err2023-07-01
err14
errOAAI
errSmith, Edward C.; Hopkins, Sam; Case, Laura E.; Xu, Ming; Walters, Crista; Dearmey, Stephanie; Han, Sang -oh; Spears, Tracy G.; Chichester, Jessica A.; Bossen, Edward H.; Hornik, Christoph P.; Cohen, Jennifer L.; Bali, Deeksha; Kishnani, Priya S.; Koeberl, Dwight D.
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Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-06-01
err0
PREAI
errLasio, Laura Duque; Leshinski, Angela C.; Ducich, Nicole H.; Flore, Leigh Anne; Lehman, April; Shur, Natasha; Jayakar, Parul B.; Hainline, Bryan E.; Basinger, Alice A.; Wilson, William G.; Diaz, George A.; Erbe, Richard W.; Koeberl, Dwight D.; Vockley, Jerry; Bedoyan, Jirair K.
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ACMG STATEMENT Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
errGENETICS IN MEDICINE
IF6.2
err2023-06-01
err1
errOAAI
errPena, Loren D. M.; Burrage, Lindsay C.; Enns, Gregory M.; Esplin, Edward D.; Harding, Cary; Mendell, Jerry R.; Niu, Zhiyv (Neal); Scharfe, Curt; Yu, Timothy; Koeberl, Dwight D.
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Successful AAV8 readministration: Suppression of capsid-specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of Pompe disease
errJOURNAL OF GENE MEDICINE
IF2.2
err2023-05-02
err6
PREAI
errChoi, Su Jin; Yi, John S. S.; Lim, Jeong-A; Tedder, Thomas F. F.; Koeberl, Dwight D. D.; Jeck, William; Desai, Ankit K. K.; Rosenberg, Amy; Sun, Baodong; Kishnani, Priya S. S.
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MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN PROPIONIC ACIDEMIA
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-03-01
err0
PREAI
errSchwahn, Bernd C.; Berry, Gerard T.; Santra, Saikat; Vernon, Hilary; Li, Hong; Merritt, Lawrence, II; Schiff, Manuel; Chabrol, Brigitte; De las Heras, Javier; Vockley, Jerry; Lee, Chung; Koeberl, Dwight; Burton, Barbara; Grunewald, Stephanie; Morgan, Thomas; Diaz, George; Ficicioglu, Can; Luo, Junxiang; Attarwala, Husain; Sikirica, Vanja; Liang, Min; Guey, Lin T.; Lukacs, Christine; Martini, Paolo G. V.; Glaser, Ruchira; Carrillo, Nuria
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MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN METHYLMALONIC ACIDEMIA DUE TO MUT DEFICIENCY
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2023-03-01
err0
PREAI
errSchiff, Manuel; Schwahn, Bernd C.; Chabrol, Brigitte; Merritt, J. Lawrence, II; Vockley, Jerry; Vernon, Hilary; Berry, Gerard T.; Santra, Saikat; Lee, Chung; Koeberl, Dwight; Li, Hong; Burton, Barbara; De las Heras, Javier; Diaz, George; Faria-Urbina, Mariana; Luo, Junxiang; Attarwala, Husain; Sikirica, Vanja; Liang, Min; Guey, Lin T.; Lukacs, Christine; Martini, Paolo G. V.; Glaser, Ruchira; Carrillo, Nuria
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Research Directions

No research directions
Co-authors
Cooperation Journals
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