Personal profile
Research interests
Our lab studies the genetic basis of rare Mendelian disorders and develops high-throughput cell-based assays and functional genomics techniques to experimentally characterize the effects of clinically observed variants. We also use genome sequencing and informatics approaches to increase the usability of genetic data at the bedside and improve clinical care.
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 -
Homozygous RFC1 AAGGG Repeat Expansions Are Common in Idiopathic Peripheral Neuropathy
PNRR Study Group, 2026, (Accepted/In press) In: Annals of neurology.Research output: Contribution to journal › Article › peer-review
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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