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Journal of Taibah University Medical Sciences|August 23, 2019
A RaDiCAL gene huntMihaela Pupavac, Ma'n H Zawati, David S RosenblattMolecular Genetics and Metabolism|May 4, 2011
Expression of Mmachc and Mmadhc during mouse organogenesisMihaela Pupavac, Maira A Moreno Garcia, David S Rosenblatt, et al.Molecular Genetics and Metabolism|June 4, 2014
The Mmachc gene is required for pre-implantation embryogenesis in the mouseMaira A Moreno-Garcia, Mihaela Pupavac, David S Rosenblatt, et al.Human Mutation|June 29, 2016
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional ActivatorMihaela Pupavac, David Watkins, Francis Petrella, et al.Molecular Genetics and Metabolism|February 1, 2016
Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolismMihaela Pupavac, Xia Tian, Jordan Chu, et al.Molecular Genetics and Metabolism|May 29, 2016
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutationsJordan Chu, Mihaela Pupavac, David Watkins, et al.Journal of Medical Genetics|June 23, 2016
Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral headWayne Mah, Swapnil K Sonkusare, Tracy Wang, et al.Human Molecular Genetics|April 28, 2017
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalitiesAnita M Quintana, Hung-Chun Yu, Alison Brebner, et al.Human Molecular Genetics|December 18, 2024
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisisZachary T Sentell, Lina Mougharbel, Zachary W Nurcombe, et al.Human Molecular Genetics|July 5, 2013
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemiaMa'atem B Fofou-Caillierez, Nadir T Mrabet, Céline Chéry, et al.Pageof 2