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
- Keehan, LA, Ono-Minagi, H, Hadhud, M, Rips, J, Hinds, DM, Fischer, AJ et al.. Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene Association. Genet Med. 2026; :102531. doi: 10.1016/j.gim.2026.102531. PubMed PMID:41653023 .
- 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.
- Altay, MF, Gregor, A, Braun, D, Rieubland, C, Gautschi, M, Perret Hoigné, E et al.. Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphology. Eur J Hum Genet. 2026;34 (2):201-208. doi: 10.1038/s41431-025-01966-y. PubMed PMID:41145827 PubMed Central PMC12858978.
- Cooperstein, IB, Marwaha, S, Ward, A, Kobren, SN, Carter, JN, Undiagnosed Diseases Network et al.. An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser. Genome Med. 2025;17 (1):127. doi: 10.1186/s13073-025-01546-1. PubMed PMID:41121346 PubMed Central PMC12539062.