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
- Cif, L, Demailly, D, Lin, JP, Barwick, KE, Sa, M, Abela, L et al.. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. ArXiv. 2025; :. . PubMed PMID:39990802 PubMed Central PMC11844621.
- Weisz-Hubshman, M, Burrage, LC, Jangam, SV, Rosenfeld, JA, von Hardenberg, S, Bergmann, A et al.. De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genet Med. 2025;27 (4):101369. doi: 10.1016/j.gim.2025.101369. PubMed PMID:39891528 .
- Fitzsimmons, L, Undiagnosed Diseases Network, Beaulieu-Jones, B, Kobren, SN. Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients. BioData Min. 2025;18 (1):6. doi: 10.1186/s13040-024-00418-5. PubMed PMID:39825393 PubMed Central PMC11740427.
- Besterman, AD, Adams, DJ, Wong, NR, Schneider, BN, Mehta, S, DiStefano, C et al.. Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic. Genet Med. 2025;27 (2):101333. doi: 10.1016/j.gim.2024.101333. PubMed PMID:39692675 .
- Borja, NA, Zafeer, MF, Bivona, S, Peart, L, Gultekin, SH, Undiagnosed Diseases Network et al.. KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3. J Med Genet. 2025;62 (2):117-122. doi: 10.1136/jmg-2024-109908. PubMed PMID:39643435 PubMed Central PMC11773626.