Skip to main content

Featured Publications


  • DeForest N, Kavitha B, Hu S, Isaac R, Krohn L, Wang M, Du X, Saldanha CDA, Gylys J, Merli E, Abagyan R, Najmi L, Mohan V, Alnylam Human Genetics, AMP-T2D Consortium, Flannick, J, Peloso GM, Gordts P, Heinz S, Deaton AM, Khera AV, Olefsky J, Radha V, Majithia, AR. Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins. 2023, Cell Genomics 3, 100339July 12, 2023. DOI
  • Trieger G, Pessentheiner A, Purcell S, Green C, DeForest N, Willert K, Majithia A, Metallo C, Godula K, Gordts P. Glycocalyx engineering with heparan sulfate mimetics attenuates Wnt activity during adipogenesis to promote glucose uptake and metabolism. J. Biol. Chem. (2023) 299(5) 104611. DOI


  • Isaac R, Vinik Y, Mikl M, Shatz-Azoulay H, Yaakobi A, DeForest N, Majithia A, Webster N, Elhanany E, Zick Y. A Seven-Transmembrane Protein -TM7SF3, Resides in Nuclear Speckles and Regulates Alternative Splicing. Accepted iScience 2022.
  • Boeder S, Kobayashi E, Ramesh G, Serences B, Kulasa K, Majithia, AR. Accuracy and Glycemic Efficacy of Continuous Glucose Monitors in Critically Ill COVID-19 Patients: a Retrospective Study. Journal of Diabetes Science and Technology. 2022;0(0). DOI
    DeForest N, Majithia, AR. Genetics of Type 2 Diabetes: Implications from Large-Scale Studies. Curr Diab Rep 22, 227–235 (2022). DOI
  • Majithia AR, Erani DM, Kusiak CM, et al. Medication Optimization Among People With Type 2 Diabetes Participating in a CGM-Driven Virtual Care Program: Prospective Trial. JMIR Formative Research. 2022 Feb. DOI


  • Du X, DeForest N, Majithia AR. Human Genetics to Identify Therapeutic Targets for NAFLD: Challenges and Opportunities. Frontiers in Endocrinology. 2021 Dec;12:1500. DOI
  • Bergenstal RM, Layne JE, Zisser H, Gabbay RA, Barleen NA, Lee AA, Majithia AR, Parkin CG, Dixon RF. Remote Application and Use of Real-Time Continuous Glucose Monitoring by Adults with Type 2 Diabetes in a Virtual Diabetes Clinic. Diabetes Technol Ther. 2021 Feb;23(2):128-132. DOI


  • Majithia AR, Kusiak CM, Armento Lee A, Colangelo FR, Romanelli RJ, Robertson S, Miller DP, Erani DM, Layne JE, Dixon RF, Zisser H. Glycemic Outcomes in Adults With Type 2 Diabetes Participating in a Continuous Glucose Monitor–Driven Virtual Diabetes Clinic: Prospective Trial. J Med Internet Res 2020;22(8):e21778. DOI
  • Dixon RF, Zisser H, Layne JE, et al. A Virtual Type 2 Diabetes Clinic Using Continuous Glucose Monitoring and Endocrinology Visits. J Diabetes Sci Technol. 2020;14(5):908-911. DOI
  • Jia T, Munson B, Lango Allen H, Ideker T, Majithia AR. Thousands of missing variants in the UK Biobank are recoverable by genome realignment. Ann Hum Genet. 2020 Mar; 84: 214– 220. DOI
  • Lal D, May P, Perez-Palma E, Samocha KE, Kosmicki JA, Robinson EB, Møller RS, Krause R, Nürnberg P, Weckhuysen S, De Jonghe P, Guerrini R, Niestroj LM, Du J, Marini C; EuroEPINOMICS-RES Consortium, Ware JS, Kurki M, Gormley P, Tang S, Wu S, Biskup S, Poduri A, Neubauer BA, Koeleman BPC, Helbig KL, Weber YG, Helbig I, Majithia AR, Palotie A, Daly MJ. Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Med 12, 28 (2020). DOI


  • Jiao Y, Ahmed U, Sim MFM, Bejar A, Zhang X, Talukder MMU, Rice R, Flannick J, Podgornaia AI, Reilly DF, Engreitz JM, Kost-Alimova M, Hartland K, Mercader JM, Georges S, Wagh V, Tadin-Strapps M, Doench JG, Edwardson JM, Rochford JJ, Rosen ED, Majithia AR. Discovering metabolic disease gene interactions by correlated effects on cellular morphology. Mol Metab. 2019 Jun; 24:108-119. Epub 2019 Mar 13. DOI PubMed PMID: 30940487.
  • Broekema MF, Massink MPG, Donato C, de Ligt J, Schaarschmidt J, Borgman A, Schooneman MG, Melchers D, Gerding MN, Houtman R, Bonvin AMJJ, Majithia AR, Monajemi H, van Haaften GW, Soeters MR, Kalkhoven E. Natural helix 9 mutants of PPARγ differently affect its transcriptional activity. Mol Metab. 2019 Feb;20:115-127. doi: 10.1016/j.molmet.2018.12.005. PubMed PMID: 30595551; PubMed Central PMCID: PMC6358588.


  • Majithia AR*, Wiltschko AB, Zheng H, Walford GA, Nathan DM. Rate of change of pre-meal glucose measured by continuous glucose monitoring predicts post-meal glycemic excursions in patients with type 1 diabetes: Implications for therapy. Journal of Diabetes Science and Technology. Journal of Diabetes Science and Technology. 2018 PMID: 28868899 *corresponding author
  • Agostini M, Schoenmakers E, Beig J, Fairall L, Szatmari I, Rajanayagam O, Muskett FW, Adams C, Marais AD, O'Rahilly S, Semple RK, Nagy L, Majithia AR, Schwabe JWR, Blom DJ, Murphy R, Chatterjee K, Savage DB. A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations. Diabetes. 2018 Jun;67(6):1086-1092. PMCID: PMC5967605


  • Majithia AR*, Tsuda B, Agostini M, Gnanapradeepan K, Rice R, Peloso G, Patel KA, Zhang X, Broekema MF, Patterson N, Duby M, Sharpe T, Kalkhoven E, Rosen ED, Barroso I, Ellard S, UK Monogenic Diabetes Consortium, Kathiresan S, Myocardial Infarction Genetics Consortium, O'Rahilly S UK Congenital Lipodystrophy Consortium, Chatterjee K, Florez JC, Mikkelsen T, Savage DB, Altshuler D. Prospective functional classification of all possible missense variants in PPARG. Nature Genetics. 2016 PMC ID: PMC5131844 *corresponding author


  • Dai N, Zhao L, Wrighting D, Krämer D, Majithia AR, Wang Y, Cracan V, Borges-Rivera D, Mootha VK, Nahrendorf M, Thorburn DR, Minichiello L, Altshuler D, Avruch J. IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and other mRNAs encoding mitochondrial proteins. Cell Metabolism. 2015. 21, 1–13. PMID: 25863250.


  • Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB, GoT2D Consortium, NHGRI JHS/FHS Allelic Spectrum Project, Sigma T2D Consortium, T2D Genes Consortium, Rosen ED, Altshuler D. Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. PNAS. 2014;111(36), 13127–13132. PMCID: PMC4246964
Full bibliography: Pubmed, Google Scholar