Bi W *, Sapir T *, Shchelochkov OA *, Zhang F, Withers M, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore D-L, Horner M, Lu X-Y, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O. LIS1 increased expression affects human and mouse brain development. Nat Genet 41(2):168-77, 2009. PMCID: 4396744 *Joint first authors
Shchelochkov OA, Tang LY, Li F, Geraghty M, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AG, Wong L-J. High frequency detection of variable rearrangements and deletions at the OTC locus by oligonucleotide array CGH. Mol Genet Metab 96(3):97-105, 2009. PMCID: 19138872
Shaibani A*, Shchelochkov OA*, Wong L-J, Shinawi M. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol 66(8):1028-32, 2009. PMCID: 2747647 *Joint first authors Archives of Neurology is currently JAMA Neurology
Lee B, Rhead W, Diaz GA, Scharschmidt BF, Mian A, Shchelochkov O, Marier JF, Beliveau M, Mauney J, Dickinson K, Martinez A, Gargosky S, Mokhtarani M, Berry SA. Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control. Mol Genet Metab 100(3):221-8, 2010. PMID: 20382058
Shchelochkov OA, Li F-Y, Wang J, Zhan H, Towbin JA, Jefferies JL, Wong L-J, Scaglia F. Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. Mol Genet Metab 101(2-3):282-5, 2010. PMID: 20728387
Wang J, Shchelochkov OA, Häberle J, Li F-G, Zhan H, H Chen, Brundage EK, Parsley AN, Schmitt ES, Wong L-J. Carbamoyl phosphate synthetase 1 gene gross deletion detected by array CGH. Mol Genet Metab 102(1):103-6, 2011. PMCID: PMC4869965
Häberle J, Shchelochkov OA, Wang J, Katsonis P, Hall L, Reiss S, Eeds A, Willis A, Yadav M, Summar S, the Urea Cycle Disorders Consortium, Lichtarge O, Rubio V, Wong L-J, Summar M. Molecular defects in human Carbamoyl Phosphate Synthetase I: mutation update, diagnostic and protein structure considerations. Hum Mutat 32(6):579-89, 2011. PMCID: PMC4861085
Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar M, O'Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B. Requirement of argininosuccinate lyase for systemic nitric oxide production. Nat Med 17(12):1619-26, 2011. PMCID: PMC3348956
Wilson JM, Shchelochkov OA, Gallagher RC, Batshaw ML. Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency. Mol Genet Metab 105(2):263-5, 2012. PMCID: PMC3273986
Nagamani SCS*, Campeau PM*, Shchelochkov OA*, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B. Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. Am J Hum Genet 90(5):836-46, 2012. PMCID: PMC3376491 *Joint first authors
Nagamani CSC*, Shchelochkov OA*, Mullins MA, Carter S, Lanpher BC, Sun Q, Kleppe S, Erez A, O’Brian Smith E, Marini J, “Members of the Urea Cycle Disorders Consortium”, Lee B. A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria. Mol Genet Metab 107(3):315-21, 2012. PMCID: PMC3483446 *Joint first authors
Fenves AZ, Shchelochkov OA, Mehta A. Hyperammonemic syndrome after roux-en-y gastric bypass. Obesity (Silver Spring) 23(4):746-9, 2015. PMID: 25754921
Manoli I, Myles J, Sloan JL, Shchelochkov OA, Venditti CP. A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: Isolated methylmalonic acidemias (MMA). Genet Med 18(4):386-95, 2016. PMCID: PMC4752925
Shchelochkov OA, Dickinson K, Scharschmidt BF, Lee B, Marino M, Le Mons C. Barriers to drug adherence in the treatment of urea cycle disorders: assessment of patient, caregiver and provider perspectives. Mol Genet Metab Rep 8:43-7, 2016. PMCID: PMC4963256
Magoulas PL*, Shchelochkov OA*, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hernández PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM. Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood 132(6):658-662, 2018. PMCID: PMC6085991 *Joint first authors
Kho J, Tian X, Wong WT, Bertin T, Jiang MM, Chen S, Jin Z, Shchelochkov OA, Burrage LC, Reddy AK, Jiang H, Abo-Zahrah R, Ma S, Zhang P, Bissig KD, Kim JJ, Devaraj S, Rodney GG, Erez A, Bryan NS, Nagamani SCS, Lee BH. Argininosuccinate lyase deficiency causes an endothelial-dependent form of hypertension. Am J Hum Genet 103(2):276-87, 2018. PMCID: PMC6080833
Lea D, Shchelochkov O, Cleary J, Koehly LM. Dietary management of propionic acidemia: parent caregiver perspectives and practices J Parenter Enteral Nutr 43(3):434-7, 2019. PMCID: PMC6395508
Shchelochkov OA, Manoli I, Sloan JL, Ferry S, Pass A, Van Ryzen C, Myles J, Schoenfeld M, McGuire P, Rosing DR, Levin MD, Kopp JB, Venditti CP. Chronic kidney disease in propionic acidemia. Genet Med 21(12):2830-2835, 2019. PMCID: PMC7045176
Manoli I, Pass AR, Harrington EA, Sloan JL, Gagne J, McCoy S, Bell SL, Leitnerr BP, Duckworth CJ, Fletcher LA, Cassimatis TM, Galaretta CI, Thurm A, Snow J, Van Ryzin C, Ferry S, Ah Mew N, Shchelochkov OA, Chen KY, Venditti CP. 13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA). Genet Med 23(8):1522-33, 2021. PMCID: PMC8354855
Shchelochkov OA, Manoli I, Juneau P, Sloan JL, Ferry SF, Myles J, Schoenfeld M, Pass A, McCoy S, Ryzin CV, Wenger O, Mevin M, Zein W, Huryn L, Snow J, Chlebowski C, Thurm A, Kopp JB, Kong Y, Chen KY, Venditti CP. Severity modeling of propionic acidemia using clinical and laboratory biomarkers. Genet Med 23(8):1534-42, 2021. PMCID: PMC8354856
Pangilinan F, Watkins D, Bernard D, Chen Y, Dong N, Wu Q, Ozel-Abaan H, Kaur M, Caggana M, Morrissey M, Browne ML, Mills JL, Van Ryzin C, Shchelochkov O, Sloan J, Venditti CP, Sarafoglou K, Rosenblatt DS, Kay DM, Brody LC. Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene. Am J Med Genet A 2022 Feb 2. PMID: 35107211