Martinez-Agosto, Julian, M.D., Ph.D.

Research

Novel growth regulatory pathways in progenitor and stem cell maintenance and the study of human growth disorders with cancer predisposition

Appointments

• Assistant Professor, Pediatrics
• Pediatric Genetics
• Medical Genetics Clinic
• Human Genetics
• Member, CTSI
• Cell & Developmental Biology GPB Home Area
• Genetics & Genomics GPB Home Area
• JCCC Signal Transduction and Therapeutics Program Area
• Neuroscience GPB Home Area

Publications

1. Mintz, KT, Altamirano, EN, Halley, MC, Barton, KS, Cho, MK, Bernstein, JA et al.. "It didn't feel like anything unusual because we had already been through so much": Disability-Related Research Experiences of Families with Children Enrolled in the Undiagnosed Diseases Network. Genet Med. 2026; :102663. doi: 10.1016/j.gim.2026.102663. PubMed PMID:42439107 PubMed Central PMC13367406.
2. Aceves-Ewing, NM, Lanza, DG, Marcogliese, PC, Lu, D, Hsu, CW, Hashimoto, H et al.. Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling. Genet Med. 2026; :102648. doi: 10.1016/j.gim.2026.102648. PubMed PMID:42429102 .
3. Leon Tenorio, AA, Sugio, T, Cheng, J, Bonner, DE, Esfahani, MS, Kasinathan, S et al.. DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade. ACR Open Rheumatol. 2026;8 (2):e70184. doi: 10.1002/acr2.70184. PubMed PMID:42396794 PubMed Central PMC12928082.
4. Ferrasse, A, Mendez, R, Gorzynski, JE, Reuter, C, Carter, JN, Blas, M et al.. Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing. Genome Biol. 2026;27 (1):. doi: 10.1186/s13059-026-04137-4. PubMed PMID:42298673 PubMed Central PMC13267750.
5. Chen, A, Avadhani, U, Ngo, K, Corona, RI, Neto, GVC, Figueroa, KP et al.. Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort. Mov Disord. 2026; :. doi: 10.1002/mds.70387. PubMed PMID:42236257 .

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