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Annual Review of Genomics and Human Genetics|August 10, 2010
Signaling pathways in human skeletal dysplasiasDustin Baldridge, Oleg Shchelochkov, Brian Kelley, et al.
JPEN. Journal of Parenteral and Enteral Nutrition|October 26, 2018
Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and PracticesDawn Lea, Oleg Shchelochkov, Jennifer Cleary, et al.
Muscle & Nerve|February 12, 2009
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutationOleg Shchelochkov, Lee-Jun Wong, Aziz Shaibani, et al.
Molecular Genetics and Metabolism|July 14, 2009
Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?Nicola Brunetti-Pierri, Ayelet Erez, Oleg Shchelochkov, et al.
Clinical Case Reports|May 3, 2021
Case report of a pseudo-isodicentric chromosome 9 resulting in mosaic trisomy 9Sarah M Beaudry, Oleg Shchelochkov, Pamela Trapane, et al.
Human Gene Therapy|January 25, 2023
Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy ExperienceRicha Madan Lomash, Oleg Shchelochkov, Randy J Chandler, et al.
Molecular Genetics and Metabolism|April 13, 2010
Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia controlBrendan Lee, William Rhead, George A Diaz, et al.
The Journal of Allergy and Clinical Immunology|July 22, 2015
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndromeAndrew W Lindsley, Howard M Saal, Thomas A Burrow, et al.
American Journal of Medical Genetics. Part A|February 2, 2022
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor geneFaith Pangilinan, David Watkins, David Bernard, et al.
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