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Carlos E. Prada

Ann & Robert H. Lurie Children's Hospital of Chicago

32H-index
199Paper Count
3.7KCitation Count
Published Papers 83
Publication Date
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Differences in Optic Pathway Glioma Prevalence Among Children with Neurofibromatosis Type 1
errJournal of Pediatrics
IF3.5
err2026-05-23
err0
errOAAI
errKokossis, Danae; Hillis, Ethan; Garzon, Jenny P.; Prada, Carlos E.; Listernick, Robert H.; Gupta, Aditi; Gutmann, David H.
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Central Precocious Puberty and Optic Pathway Glioma in Children with Neurofibromatosis 1: Associations with Tumor Location, Vision, and Treatment
errThe Journal of Pediatrics
IF3.5
err2026-03-02
err0
errOAAI
errJulia Katz; Ethan Hillis; Jenny P. Garzon; Robert Listernick; Carlos E. Prada; Aditi Gupta; David H. Gutmann
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errSave
CASE SERIES OF CONTINUOUS RENAL REPLACEMENT THERAPY IN ORGANIC ACIDEMIAS
errCritical Care Medicine
IF6
err2026-03-01
err0
PREAI
errRowland, Matthew; Prada, Carlos; Barhight, Matthew; Paula Silva, Maria
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errSave
Current bone screening practices in patients with Gaucher disease in the US: A retrospective cohort analysis of administrative claims data, 2016-2024
errMolecular Genetics and Metabolism
IF3.5
err2026-02-03
err0
PREAI
errChanan Stauffer; Carlos E. Prada; Judy Hull; Maria G. Perichon; Jenny L. Carwile; Natalia Petruski-Ivleva; Siddhi Umarje; Kalyani Hawaldar; Maja Gasparic
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errSave
Current opinions on Noonan syndrome and RASopathies
errCurrent Opinion in Pediatrics
IF2.5
err2026-02-01
err1
PREAI
errWeaver, Kathryn Nicole; Prada, Carlos E.
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errSave
Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity
errAmerican Journal of Medical Genetics Part A
IF1.7
err2026-02-01
err0
errOAAI
errSilva, Maria Paula; Havens, Kirsten; Arduini, Katherine; Kozek, Anne; Vucko, Erika; Charrow, Joel; Baker, Joshua; Prada, Carlos E.
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errSave
An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-11-01
err0
errOAAI
errRaski, Carolyn R.; Prada, Carlos E.
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errSave
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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A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-10-01
err0
errOAAI
errLangas, Sarah Jurgensmeyer; Weisman, Allison Goetsch; Allegretti, Valerie; Kim, Katherine; Birriel, Roxanne; Prada, Carlos E.
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errSave
Role of CAMK2D in neurodevelopment and associated conditions
erramerican journal of human genetics
IF0
err2025-08-11
err0
PREAI
errPomme M.F. Rigter; Charlotte de Konink; Matthew J. Dunn; Martina Proietti Onori; Jennifer B. Humberson; Matthew Thomas; Caitlin Barnes; Carlos E. Prada; K. Nicole Weaver; Thomas D. Ryan; Oana Caluseriu; Jennifer Conway; Emily Calamaro; Chin-To Fong; Wim Wuyts; Marije Meuwissen; Eva Hordijk; Carsten N. Jonkers; Lucas Anderson; Berfin Yuseinova; Sarah Polonia; Diane Beysen; Zornitza Stark; Elena Savva; Cathryn Poulton; Fiona McKenzie; Elizabeth Bhoj; Caleb P. Bupp; Stéphane Bézieau; Sandra Mercier; Amy Blevins; Ingrid M. Wentzensen; Fan Xia; Jill A. Rosenfeld; Tzung-Chien Hsieh; Peter M. Krawitz; Miriam Elbracht; Danielle C.M. Veenma; Howard Schulman; Margaret M. Stratton; Sébastien Küry; Geeske M. van Woerden
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errSave
Retrospective chart review of Gaucher disease type 1 patients homozygous for the p.N409S variant
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errQuadri, Allegra M.; Charrow, Joel; Prada, Carlos E.
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Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals
errHEPATOLOGY COMMUNICATIONS
IF4.6
err2025-01-01
err0
errOAAI
errMistry, Pramod K.; Cassiman, David; Jones, Simon A.; Lachmann, Robin; Lukina, Elena; Prada, Carlos E.; Wasserstein, Melissa P.; Thurberg, Beth L.; Foster, Meredith C.; Patel, Reema M.; Underhill, Lisa H.; Peterschmitt, M. Judith
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Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life
errGENETICS IN MEDICINE
IF6.2
err2024-12-01
err0
errOAAI
errSavarirayan, Ravi; Irving, Melita; Wilcox, William R.; Bacino, Carlos A.; Hoover-Fong, Julie E.; Harmatz, Paul; Polgreen, Lynda E.; Mohnike, Klaus; Prada, Carlos E.; Kubota, Takuo; Arundel, Paul; Leiva-Gea, Antonio; Rowell, Richard; Low, Andrea; Sabir, Ian; Huntsman-Labed, Alice; Day, Jonathan
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Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2024-10-01
err1
errOAAI
errLiu, Andrew C.; Shen, Yang; Serbinski, Carolyn R.; He, Hongzhi; Roman, Destino; Endale, Mehari; Aschbacher-Smith, Lindsey; King, Katherine A.; Granadillo, Jorge L.; Lopez, Isabel; Krueger, Darcy A.; Dye, Thomas J.; Smith, David F.; Hogenesch, John B.; Prada, Carlos E.
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Scoping review of the recommendations and guidance for improving the quality of rare disease registries
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-05-06
err2
errOAAI
errTarride, J. E.; Okoh, A.; Aryal, K.; Prada, C.; Milinkovic, Deborah; Keepanasseril, A.; Iorio, A.
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errSave
Liver transaminase trends in propionic acidemia
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errSilva, Maria; Prada, Carlos; Raski, Carolyn; Baker, Joshua
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errSave
Effectiveness of newborn screening triage model
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errSilva, Maria; Prada, Carlos; Havens, Kirsten; Arriaga, Angelica; Carlson, Erica; Becker, Karen; Baker, Joshua
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Case review: Fabry disease and burden of aortic dilation on female patients
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errSathish, Karthik; Quadri, Allegra; Tobin, Margaret; Prada, Carlos; Baker, Joshua
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Development of a metabolic decompensation event severity score for patients with propionic acidemia or methylmalonic acidemia
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errSchwartz, Ethan J.; Longo, Nicola; Perera, Sue; Dionisi-Vici, Carlo; Leuchars, Mary; Burrow, Andrew; Ajayi, Temitayo; de las Heras, Javier; Banerjee, Geetanjoli; Prada, Carlos; Alex Bellenger, M.; Moshkovich, Olga; Sikirica, Vanja
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Hips don't lie: Utility of imaging in individuals with Gaucher disease
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err0
PREAI
errPrada, Carlos E.; Rasmussen, Carly; Quadri, Allegra M.; Izdebski, Monika
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Research Directions

No research directions
Co-authors
Cooperation Journals
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