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. Huang, Y, Jay, KL, Huang, AY, Wan, J, Jangam, SV, Chorin, O et al.. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024; :101218. doi: 10.1016/j.gim.2024.101218. PubMed PMID:39036895 .
2. McNamee, L, Schoch, K, Huang, A, Lee, H, Wang, LK, Smith, EC et al.. Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy. Am J Med Genet A. 2024; :e63798. doi: 10.1002/ajmg.a.63798. PubMed PMID:38924341 .
3. Moulton, MJ, Atala, K, Zheng, Y, Dutta, D, Grange, DK, Lin, WW et al.. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med. 2024;26 (9):101174. doi: 10.1016/j.gim.2024.101174. PubMed PMID:38847193 .
4. Anderson, JT, Roth, JD, Rosenau, KA, Dwyer, PS, Kuo, AA, Martinez-Agosto, JA et al.. Enhancing multi-site autism research through the development of a collaborative data platform. Autism Res. 2024;17 (7):1322-1327. doi: 10.1002/aur.3167. PubMed PMID:38794841 .
5. Rael, VE, Yano, JA, Huizar, JP, Slayden, LC, Weiss, MA, Turcotte, EA et al.. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. J Exp Med. 2024;221 (8):. doi: 10.1084/jem.20232005. PubMed PMID:38780621 PubMed Central PMC11116816.

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