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. Duan, E, Robinson, M, Davis, C, Pruthi, S, Shin, C, Lewis, M et al.. Pediatric patients with von Hippel-Lindau and hemangioblastomas treated successfully with belzutifan. Pediatr Blood Cancer. 2024; :e31371. doi: 10.1002/pbc.31371. PubMed PMID:39415342 .
2. Borja, NA, Tinker, RJ, Bivona, SA, Smith, CA, Locker, TK, Fernandes, S et al.. Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network. Am J Med Genet A. 2024; :e63904. doi: 10.1002/ajmg.a.63904. PubMed PMID:39400494 .
3. Wong, NR, Klomhaus, A, Adams, DJ, Schneider, BN, Mehta, S, DiStefano, C et al.. Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic. Genet Med. 2024; :101252. doi: 10.1016/j.gim.2024.101252. PubMed PMID:39395029 .
4. Borroto, MC, Patel, H, Srivastava, S, Swanson, LC, Keren, B, Whalen, S et al.. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024;160 :45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. PubMed PMID:39181022 .
5. Huang, Y, Jay, KL, Yen-Wen Huang, A, 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;26 (11):101218. doi: 10.1016/j.gim.2024.101218. PubMed PMID:39036895 .

Search PubMed