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
- 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 .
- 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.
- 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 .