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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.Nature Genetics|March 3, 2015
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesinKosuke Izumi, Ryuichiro Nakato, Zhe Zhang, et al.Brain : a Journal of Neurology|February 1, 2022
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequencesDulika Sumathipala, Petter Strømme, Zohreh Fattahi, et al.JCI Insight|September 9, 2025
Dissecting the effect of mitochondrial BCAT inhibition in methylmalonic acidemiaMadeline G Hemmingsen, Guo-Fang Zhang, Yunhan Ma, et al.Journal of Inherited Metabolic Disease|December 6, 2013
Update on transcobalamin deficiency: clinical presentation, treatment and outcomeY J Trakadis, A Alfares, O A Bodamer, et al.Proceedings of the National Academy of Sciences of the United States of America|July 31, 2013
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemiaIrini Manoli, Justin R Sysol, Lingli Li, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 6, 2021
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.Cell Reports|December 21, 2017
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic AcidemiaDing An, Jessica L Schneller, Andrea Frassetto, et al.Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.JCI Insight|January 25, 2024
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylationIrini Manoli, Justin R Sysol, PamelaSara E Head, et al.Pageof 18