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Our Partners and Projects

Our Partners and Projects

Our Rare Request Program has an extensive network of family and foundation partners as well as scientific and academic collaborators. Read testimonials and review exciting recently work.

Current Project List

Suggest Publications

  • Hines TJ, Lutz C, Murray SA, Burgess RW. An Integrated Approach to Studying Rare Neuromuscular Diseases Using Animal and Human Cell-Based Models. Front Cell Dev Biol. 2022 Jan 3;9:801819. doi: 10.3389/fcell.2021.801819. PMID: 35047510; PMCID: PMC8762301.
  • Eller MM, Zuberi AR, Fu X, Burgess SC, Lutz CM, Bailey RM. Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency. bioRxiv [Preprint]. 2024 Jun 13:2024.06.13.598697. doi: 10.1101/2024.06.13.598697. PMID: 38915588; PMCID: PMC11195255.
  • Presa M, Pham V, Ray S, Piec PA, Ryan J, Billings T, Coombs H, Schlotawa L, Lund T, Ahrens-Nicklas RC, Lutz C. Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model. Commun Med (Lond). 2024 Oct 25;4(1):215. doi: 10.1038/s43856-024-00648-y. PMID: 39448727; PMCID: PMC11502872.
  • Bogue MA, Ball RL, Philip VM, Walton DO, Dunn MH, Kolishovski G, Lamoureux A, Gerring M, Liang H, Emerson J, Stearns T, He H, Mukherjee G, Bluis J, Desai S, Sundberg B, Kadakkuzha B, Kunde-Ramamoorthy G, Chesler EJ. Mouse Phenome Database: towards a more FAIR-compliant and TRUST-worthy data repository and tool suite for phenotypes and genotypes. Nucleic Acids Res. 2023 Jan 6;51(D1):D1067-D1074. doi: 10.1093/nar/gkac1007. PMID: 36330959; PMCID: PMC9825561.
  • Raza A, Diehl SA, Krementsov DN, Case LK, Li D, Kost J, Ball RL, Chesler EJ, Philip VM, Huang R, Chen Y, Ma R, Tyler AL, Mahoney JM, Blankenhorn EP, Teuscher C. A genetic locus complements resistance to Bordetella pertussis-induced histamine sensitization. Commun Biol. 2023 Mar 6;6(1):244. doi: 10.1038/s42003-023-04603-w. PMID: 36879097; PMCID: PMC9988836.
  • Stefancsik R, Balhoff JP, Balk MA, Ball RL, Bello SM, Caron AR, Chesler EJ, de Souza V, Gehrke S, Haendel M, Harris LW, Harris NL, Ibrahim A, Koehler S, Matentzoglu N, McMurry JA, Mungall CJ, Munoz-Torres MC, Putman T, Robinson P, Smedley D, Sollis E, Thessen AE, Vasilevsky N, Walton DO, Osumi-Sutherland D. The Ontology of Biological Attributes (OBA)-computational traits for the life sciences. Mamm Genome. 2023 Sep;34(3):364-378. doi: 10.1007/s00335-023-09992-1. Epub 2023 Apr 19. PMID: 37076585; PMCID: PMC10382347.
  • Matentzoglu N, Bello SM, Stefancsik R, Alghamdi SM, Anagnostopoulos AV, Balhoff JP, Balk MA, Bradford YM, Bridges Y, Callahan TJ, Caufield H, Cuzick A, Carmody LC, Caron AR, de Souza V, Engel SR, Fey P, Fisher M, Gehrke S, Grove C, Hansen P, Harris NL, Harris MA, Harris L, Ibrahim A, Jacobsen JOB, Köhler S, McMurry JA, Munoz-Fuentes V, Munoz-Torres MC, Parkinson H, Pendlington ZM, Pilgrim C, Robb SM, Robinson PN, Seager J, Segerdell E, Smedley D, Sollis E, Toro S, Vasilevsky N, Wood V, Haendel MA, Mungall CJ, McLaughlin JA, Osumi-Sutherland D. The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics. bioRxiv [Preprint]. 2024 Sep 22:2024.09.18.613276. doi: 10.1101/2024.09.18.613276. PMID: 39345458; PMCID: PMC11429889.
  • Wang L, Heffner C, Vong KI, Barrows C, Ha YJ, Lee S, Lara-Gonzalez P, Jhamb I, Van Der Meer D, Loughnan R, Parker N, Sievert D, Mittal S, Issa MY, Andreassen OA, Dale A, Dobyns WB, Zaki MS, Murray SA, Gleeson JG. TMEM161B modulates radial glial scaffolding in neocortical development. Proc Natl Acad Sci U S A. 2023 Jan 24;120(4):e2209983120. doi: 10.1073/pnas.2209983120. Epub 2023 Jan 20. PMID: 36669109; PMCID: PMC9942823.
  • Kanai SM, Heffner C, Cox TC, Cunningham ML, Perez FA, Bauer AM, Reigan P, Carter C, Murray SA, Clouthier DE. Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants. Dis Model Mech. 2022 Apr 1;15(4):dmm049320. doi: 10.1242/dmm.049320. Epub 2022 Apr 29. PMID: 35284927; PMCID: PMC9066496.
  • VanPortfliet JJ, Lei Y, Ramanathan M, Martinez CG, Wong J, Stodola TJ, Hoffmann BR, Pflug K, Sitcheran R, Kneeland SC, Murray SA, McGuire PJ, Cannon CL, West AP. Caspase-11 drives macrophage hyperinflammation in models of Polg-related mitochondrial disease. bioRxiv [Preprint]. 2025 Jan 17:2024.05.11.593693. doi: 10.1101/2024.05.11.593693. PMID: 38798587; PMCID: PMC11118447.
  • Racine JJ, Misherghi A, Dwyer JR, Maser R, Forte E, Bedard O, Sattler S, Pugliese A, Landry L, Elso C, Nakayama M, Mannering S, Rosenthal N, Serreze DV. HLA-DQ8 Supports Development of Insulitis Mediated by Insulin-Reactive Human TCR-Transgenic T Cells in Nonobese Diabetic Mice. J Immunol. 2023 Dec 15;211(12):1792-1805. doi: 10.4049/jimmunol.2300303. PMID: 37877672; PMCID: PMC10939972.
  • Racine JJ, Bachman JF, Zhang JG, Misherghi A, Khadour R, Kaisar S, Bedard O, Jenkins C, Abbott A, Forte E, Rainer P, Rosenthal N, Sattler S, Serreze DV. Murine MHC-Deficient Nonobese Diabetic Mice Carrying Human HLA-DQ8 Develop Severe Myocarditis and Myositis in Response to Anti-PD-1 Immune Checkpoint Inhibitor Cancer Therapy. J Immunol. 2024 Apr 15;212(8):1287-1306. doi: 10.4049/jimmunol.2300841. PMID: 38426910; PMCID: PMC10984778.
  • Debreceni IL, Chimenti MS, Serreze DV, Geurts AM, Chen YG, Lieberman SM. Toll-Like Receptor 7 Is Required for Lacrimal Gland Autoimmunity and Type 1 Diabetes Development in Male Nonobese Diabetic Mice. Int J Mol Sci. 2020 Dec 13;21(24):9478. doi: 10.3390/ijms21249478. PMID: 33322152; PMCID: PMC7764018.
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