Members

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. Alabdi, L, Altuwaijri, N, Zhu, JY, Efthymiou, S, Lee, H, Duan, J et al.. SLK is mutated in individuals with a neurodevelopmental disorder. EBioMedicine. 2025;116 :105725. doi: 10.1016/j.ebiom.2025.105725. PubMed PMID:40347834 .
  2. Cif, L, Demailly, D, Lin, JP, Barwick, KE, Sa, M, Abela, L et al.. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. ArXiv. 2025; :. . PubMed PMID:39990802 PubMed Central PMC11844621.
  3. Weisz-Hubshman, M, Burrage, LC, Jangam, SV, Rosenfeld, JA, von Hardenberg, S, Bergmann, A et al.. De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genet Med. 2025;27 (4):101369. doi: 10.1016/j.gim.2025.101369. PubMed PMID:39891528 .
  4. Fitzsimmons, L, Undiagnosed Diseases Network, Beaulieu-Jones, B, Kobren, SN. Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients. BioData Min. 2025;18 (1):6. doi: 10.1186/s13040-024-00418-5. PubMed PMID:39825393 PubMed Central PMC11740427.
  5. Besterman, AD, Adams, DJ, Wong, NR, Schneider, BN, Mehta, S, DiStefano, C et al.. Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic. Genet Med. 2025;27 (2):101333. doi: 10.1016/j.gim.2024.101333. PubMed PMID:39692675 .
Search PubMed