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. Assadourian, AA, Martinez-Agosto, JA. Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders. Pediatr Res. 2025; :. doi: 10.1038/s41390-025-04611-y. PubMed PMID:41274961 .
2. Altay, MF, Gregor, A, Braun, D, Rieubland, C, Gautschi, M, Perret Hoigné, E et al.. Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphology. Eur J Hum Genet. 2025; :. doi: 10.1038/s41431-025-01966-y. PubMed PMID:41145827 .
3. Cooperstein, IB, Marwaha, S, Ward, A, Kobren, SN, Carter, JN, Undiagnosed Diseases Network et al.. An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser. Genome Med. 2025;17 (1):127. doi: 10.1186/s13073-025-01546-1. PubMed PMID:41121346 PubMed Central PMC12539062.
4. Adams, DJ, Klomhaus, AM, Wong, NR, Schneider, BN, DiStefano, C, Mehta, S et al.. Clinical determinants of psychiatric care in genetic neurodevelopmental disorders: a cross-sectional analysis. J Neurodev Disord. 2025;17 (1):61. doi: 10.1186/s11689-025-09654-0. PubMed PMID:41057772 PubMed Central PMC12506073.
5. Brown, TR, Lee, WL, Ventimiglia, J, Grosse, SD, Levy, T, Thurm, A et al.. Genetic Testing Among Medicaid-Insured Children With Autism and Intellectual Disability. JAMA Netw Open. 2025;8 (9):e2533518. doi: 10.1001/jamanetworkopen.2025.33518. PubMed PMID:40971157 PubMed Central PMC12449721.

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