Intellectual and Developmental Disabilities Research Center

FACULTY

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. Ezell, KM, Tinker, RJ, Furuta, Y, Gulsevin, A, Bastarache, L, Hamid, R et al.. Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant. Am J Med Genet A. 2024; :e63597. doi: 10.1002/ajmg.a.63597. PubMed PMID:38511854 .
  2. Dohrn, MF, Bademci, G, Rebelo, AP, Jeanne, M, Borja, NA, Beijer, D et al.. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism. Ann Clin Transl Neurol. 2024;11 (4):1075-1079. doi: 10.1002/acn3.51963. PubMed PMID:38504481 PubMed Central PMC11021672.
  3. Dhawan, A, Baitamouni, S, Liu, D, Busch, R, Klaas, P, Frazier, TW et al.. Exploring the neurological features of individuals with germline PTEN variants: A multicenter study. Ann Clin Transl Neurol. 2024;11 (5):1301-1309. doi: 10.1002/acn3.52046. PubMed PMID:38501559 PubMed Central PMC11093251.
  4. Pucel, J, Briere, LC, Reuter, C, Gochyyev, P, Undiagnosed Diseases Network, LeBlanc, K et al.. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis. Genet Med. 2024;26 (6):101115. doi: 10.1016/j.gim.2024.101115. PubMed PMID:38436216 .
  5. Scala, M, Tomati, V, Ferla, M, Lena, M, Cohen, JS, Fatemi, A et al.. De novo variants in DENND5B cause a neurodevelopmental disorder. Am J Hum Genet. 2024;111 (3):529-543. doi: 10.1016/j.ajhg.2024.02.001. PubMed PMID:38387458 PubMed Central PMC10940048.
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