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
- Thambundit, A, Martinez-Agosto, JA, Kianmahd Shamshoni, J, Winer, KK, Mittelman, SD. Three Siblings With Familial Isolated Hypoparathyroidism: A Diagnostic Journey From CASR to Novel GCM2 Variant. JCEM Case Rep. 2024;2 (11):luae185. doi: 10.1210/jcemcr/luae185. PubMed PMID:39439810 PubMed Central PMC11495326.
- Duan, E, Robinson, M, Davis, C, Pruthi, S, Shin, C, Lewis, M et al.. Pediatric patients with von Hippel-Lindau and hemangioblastomas treated successfully with belzutifan. Pediatr Blood Cancer. 2024; :e31371. doi: 10.1002/pbc.31371. PubMed PMID:39415342 .
- Borja, NA, Tinker, RJ, Bivona, SA, Smith, CA, Locker, TK, Fernandes, S et al.. Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network. Am J Med Genet A. 2024; :e63904. doi: 10.1002/ajmg.a.63904. PubMed PMID:39400494 .
- Wong, NR, Klomhaus, A, Adams, DJ, Schneider, BN, Mehta, S, DiStefano, C et al.. Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic. Genet Med. 2024; :101252. doi: 10.1016/j.gim.2024.101252. PubMed PMID:39395029 .
- Borroto, MC, Patel, H, Srivastava, S, Swanson, LC, Keren, B, Whalen, S et al.. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024;160 :45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. PubMed PMID:39181022 .