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
- 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. 2024; :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. 2024; :. doi: 10.1136/jmg-2024-109908. PubMed PMID:39643435 .
- Tan, QK, McConkie-Rosell, A, Mahoney, R, Spillmann, RC, Schoch, K, Chanprasert, S et al.. Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study. Am J Med Genet A. 2024; :e63956. doi: 10.1002/ajmg.a.63956. PubMed PMID:39629753 .
- 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. 2025;72 (1):e31371. doi: 10.1002/pbc.31371. PubMed PMID:39415342 .