Explore our research fingerprint
Jump over to the division’s research profile to fully explore the nature and scope of our research publications over the years.
Recent publications
- Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patientsUndiagnosed Diseases Network, Dec 2025, In: BioData Mining. 18, 1, 6.Research output: Contribution to journal › Article › peer-review
- Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyUndiagnosed Diseases Network, Apr 2025, In: American Journal of Medical Genetics, Part A. 197, 4, e63956.Research output: Contribution to journal › Article › peer-review
- Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseasesfor the chILD Registry Collaborative, Apr 2025, In: Pediatric Pulmonology. 60, 4, e71073.Research output: Contribution to journal › Article › peer-review
- De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomaliesUndiagnosed Diseases Network, Apr 2025, In: Genetics in Medicine. 27, 4, 101369.Research output: Contribution to journal › Article › peer-review
- Colonic goblet cell-associated antigen passages mediate physiologic and beneficial translocation of live gut bacteria in preweaning miceUdayan, S., Floyd, A. N., John, V., Barrios, B. E., Rusconi, B. A., McDonald, K. G., Schill, E. M., Kulkarni, D. H., Martin, A. L., Gutierrez, R., Talati, K. B., Harris, D. L., Sundas, S., Burgess, K. M., Pauta, J. T., Joyce, E. L., Wang, J. D., Wilson, L. D., Knoop, K. A. & Tarr, P. I. & 2 others, Hsieh, C. S. & Newberry, R. D., Apr 2025, In: Nature microbiology. 10, 4, p. 927-938 12 p., 102356.Research output: Contribution to journal › […]
- “Estimation of gestational age-specific reference intervals for coagulation assays in a neonatal intensive care unit using real-world data”: replyLalos, N., Vesoulis, Z., Maucione, C. & Spies, N. C., Apr 2025, In: Journal of Thrombosis and Haemostasis. 23, 4, p. 1454-1455 2 p.Research output: Contribution to journal › Letter › peer-review
- M3NetFlow: A multi-scale multi-hop graph AI model for integrative multi-omic data analysisZhang, H., Goedegebuure, S. P., Ding, L., DeNardo, D., Fields, R., Province, M., Chen, Y., Payne, P. & Li, F., Mar 21 2025, In: iScience. 28, 3, 111920.Research output: Contribution to journal › Article › peer-review
- Sequence variants in HECTD1 result in a variable neurodevelopmental disorderZerafati-Jahromi, G., Oxman, E., Hoang, H., Charng, W. L., Kotla, T., Yuan, W., Ishibashi, K., Sebaoui, S., Luedtke, K., Winrow, B., Ganetzky, R. D., Ruiz, A., Manso-Basúz, C., Spataro, N., Kannu, P., Athey, T., Peroutka, C., Barnes, C., Sidlow, R. & Anadiotis, G. & 34 others, Magnussen, K., Valenzuela, I., Moles-Fernandez, A., Berger, S., Grant, C. L., Vilain, E., Arnadottir, G. A., Sulem, P., Sulem, T. S., Stefansson, K., Massey, S., Ginn, N., Poduri, A., D'Gama, A. M., Valentine, R., Trowbridge, S. K., Murali, C. N., Franciskovich, R., Tran, Y., Webb, […]
- Emotional ecosystems: Understanding the relationship between family interactions and anxiety among cancer caregiversMakinde, K. W., Benson, J., Pitzer, K. A., Mitchell, M., Oliver, D. P., Demiris, G. & Washington, K. T., Jan 30 2025, In: Palliative and Supportive Care. 23, e54.Research output: Contribution to journal › Article › peer-review
- KIF21A -associated peripheral neuropathy defined by impaired binding with TUBB3Undiagnosed Diseases Network, Jan 27 2025, In: Journal of Medical Genetics. 62, 2, p. 117-122 6 p.Research output: Contribution to journal › Article › peer-review