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
- 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; :. doi: 10.1038/s41525-026-00556-1. PubMed PMID:41844650 .
- Keehan, LA, Ono-Minagi, H, Hadhud, M, Rips, J, Hinds, DM, Fischer, AJ et al.. Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association. Genet Med. 2026;28 (4):102531. doi: 10.1016/j.gim.2026.102531. PubMed PMID:41653023 PubMed Central PMC13078123.
- Furuta, Y, Ezell, KM, Hamid, R, Cogan, JD, Cassini, TA, Rives, L et al.. Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses. Mol Genet Genomic Med. 2025;13 (12):e70165. doi: 10.1002/mgg3.70165. PubMed PMID:41407309 PubMed Central PMC12711360.
- Assadourian, AA, Martinez-Agosto, JA. Precision diagnostic and therapeutic interventions in rare genetic neurodevelopmental disorders. Pediatr Res. 2025;98 (7):2491-2502. doi: 10.1038/s41390-025-04611-y. PubMed PMID:41274961 PubMed Central PMC12875870.