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
- 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.
- 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.
- Peng, X, Jia, X, Wang, H, Chen, J, Zhang, X, Tan, S et al.. Disrupting Integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development. J Clin Invest. 2025; :. doi: 10.1172/JCI191729. PubMed PMID:40966122 .
- Besterman, AD, Hellemann, G, Gutierrez-Mejia, I, Nguyen, DC, Sadik, J, Gandara, V et al.. Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway. medRxiv. 2025; :. doi: 10.1101/2025.08.19.25333388. PubMed PMID:40894148 PubMed Central PMC12393652.
- Farmer, C, Thurm, A, Das, T, Bebin, EM, Bernstein, JA, Berry-Kravis, E et al.. Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change. Am J Intellect Dev Disabil. 2025;130 (5):344-361. doi: 10.1352/1944-7558-130.5.344. PubMed PMID:40858311 .