Personal profile
Research interests
We are investigating the cellular and molecular genetic mechanisms underlying vertebrate gastrulation, a crucial period of embryogenesis during which the germ layers are formed and then shaped into the vertebrate body plan with organ rudiments. Gastrulation entails a combination of inductive events that specify cell identities with massive cell movements and rearrangements that fashion the body plan. The complex and dynamic nature of gastrulation makes it a challenging but intellectually fascinating object of study. In humans, 25-50% of pregnancies end in early miscarriages of largely unknown genetic origin. Moreover, the molecular regulation of tumor growth and metastasis show striking parallels to those underlying gastrulation movements, underscoring the practical significance of gastrulation research.
We are addressing the mechanisms of gastrulation in the zebrafish (Danio rerio) and human embryonic stem cells.
Mentoring
I have completed the "Optimizing the Practice of Mentoring" course sponsored by the National Research Mentoring Network and the University of Minnesota Clinical and Translational Science Institute.
Available to Mentor:
- PhD Students
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Collaborations and top research areas from the last five years
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Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association
Keehan, L. A., Ono-Minagi, H., Hadhud, M., Rips, J., Hinds, D. M., Fischer, A. J., Bartlett, J. A., McCray, P. B., Qawasmi, N., Nathan, N., Louvrier, C., Desroziers, T., Damme, M., Griese, M., Wegner, D. J., Cole, F. S., Wambach, J. A., Wheeler, M. T., Burbelo, P. D. & Bonner, D. E. & 335 others, , Apr 2026, In: Genetics in Medicine. 28, 4, 102531.Research output: Contribution to journal › Article › peer-review
Open Access2 Link opens in a new tab Scopus citations -
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism
Undiagnosed Diseases Network, Stewart, R., Ezell, K. M., Bell, D. S., Corner, B., McMinn, A., Cogan, J. D., Hamid, R., Rives, L., Phillips, J. A., Paddu, N., Srivastava, G., Marom, R., Ladha, F. A., Soler-Alfonso, C., Franciskovich, R., Koziura, M., Pruthi, S., Richard, G. & Sheedy, C. B. & 181 others, , Jan 2026, In: American Journal of Medical Genetics, Part A. 200, 1, p. 205-214 10 p.Research output: Contribution to journal › Article › peer-review
Open Access -
DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade
Undiagnosed Diseases Network, Feb 2026, In: ACR Open Rheumatology. 8, 2, e70184.Research output: Contribution to journal › Article › peer-review
Open Access -
LONP1 Variants Are Associated With Clinically Diverse Phenotypes
Undiagnosed Diseases Network, Mar 2026, In: Clinical Genetics. 109, 3, p. 437-457 21 p.Research output: Contribution to journal › Article › peer-review
1 Link opens in a new tab Scopus citations -
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network
Undiagnosed Diseases Network, Feb 2025, In: American Journal of Medical Genetics, Part A. 197, 2, e63904.Research output: Contribution to journal › Article › peer-review
Open Access5 Link opens in a new tab Scopus citations