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. 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 .
2. 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 .
3. Mulvihill, JJ, Findley, L, Ni, W, Sinsheimer, JS, Cole, FS, Esteves, C et al.. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones. Genet Med. 2024;26 (10):101203. doi: 10.1016/j.gim.2024.101203. PubMed PMID:38967101 .
4. 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 .
5. 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 .

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