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
- Leon Tenorio, AA, Sugio, T, Cheng, J, Bonner, DE, Esfahani, MS, Kasinathan, S et al.. DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade. ACR Open Rheumatol. 2026;8 (2):e70184. doi: 10.1002/acr2.70184. PubMed PMID:42396794 PubMed Central PMC12928082.
- Ferrasse, A, Mendez, R, Gorzynski, JE, Reuter, C, Carter, JN, Blas, M et al.. Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing. Genome Biol. 2026;27 (1):. doi: 10.1186/s13059-026-04137-4. PubMed PMID:42298673 PubMed Central PMC13267750.
- Chen, A, Avadhani, U, Ngo, K, Corona, RI, Neto, GVC, Figueroa, KP et al.. Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort. Mov Disord. 2026; :. doi: 10.1002/mds.70387. PubMed PMID:42236257 .
- Niehaus, AD, Bonner, DE, Carter, J, Avello, K, Jacob, N, Neu, MB et al.. De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling. Am J Med Genet A. 2026; :. doi: 10.1002/ajmg.a.70162. PubMed PMID:42002855 .
- Yehia, L, Li, L, Idumah, G, Frazier, TW, Makarov, V, Bose, A et al.. Genomic modifiers of malignant and neurodevelopmental phenotypes in individuals with PTEN hamartoma tumor syndrome. NPJ Genom Med. 2026;11 (1):. doi: 10.1038/s41525-026-00556-1. PubMed PMID:41844650 PubMed Central PMC13172402.