Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
June 1, 2021
Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ; Undiagnosed Diseases Network, Sunyaev SR, Kohane IS. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12. PMID: 33580225; PMCID: PMC8187147.
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
May 7, 2021
Baldridge D, Wangler MF, Bowman AN, Yamamoto S; Undiagnosed Diseases Network, Schedl T, Pak SC, Postlethwait JH, Shin J, Solnica-Krezel L, Bellen HJ, Westerfield M. Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet J Rare Dis. 2021 May 7;16(1):206. doi: 10.1186/s13023-021-01839-9. PMID: 33962631; PMCID: PMC8103593.
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome
May 1, 2020
Baldridge D, Spillmann RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. Am J Med Genet A. 2020 May;182(5):1053-1065. doi: 10.1002/ajmg.a.61518. Epub 2020 Feb 21. PMID: 32083401; PMCID: PMC7295006.
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results
September 1, 2017
Baldridge D, Heeley J, Vineyard M, Manwaring L, Toler TL, Fassi E, Fiala E, Brown S, Goss CW, Willing M, Grange DK, Kozel BA, Shinawi M. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017 Sep;19(9):1040-1048. doi: 10.1038/gim.2016.224. Epub 2017 Mar 2. PMID: 28252636; PMCID: PMC5581723.
Recent publications
- Association of Social Determinants of Health with Genetic Test Request and Completion Rates in Children with Neurologic DisordersCole, J. J., Williams, J. P., Sellitto, A. D., Baratta, L. R., Huecker, J. B., Baldridge, D., Kannampallil, T., Gurnett, C. A. & Balls-Berry, J. E., Feb 12 2025, In: Neurology. 104, 5, e210275.Research output: Contribution to journal › Article › peer-review
- Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease NetworkUndiagnosed Diseases Network, Feb 2025, In: American Journal of Medical Genetics, Part A. 197, 2, e63904.Research output: Contribution to journal › Article › peer-review
- The Brain Gene Registry: a data snapshotBaldridge, D., Kaster, L., Sancimino, C., Srivastava, S., Molholm, S., Gupta, A., Oh, I., Lanzotti, V., Grewal, D., Riggs, E. R., Savatt, J. M., Hauck, R., Sveden, A., Constantino, J. N., Piven, J., Gurnett, C. A., Chopra, M., Hazlett, H. & Payne, P. R. O., Dec 2024, In: Journal of neurodevelopmental disorders. 16, 1, 17.Research output: Contribution to journal › Article › peer-review
- LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variantsUndiagnosed Diseases Network, Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W. P., Leung, Y. Y., Harms, M. B., Vardarajan, B., Heinzen, E. L., Acosta, M. T., Adam, M., Izumi, K., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A. & Bademci, G. & 181 others, Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. […]
- Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathyUndiagnosed Diseases Network, Nov 2024, In: American Journal of Medical Genetics, Part A. 194, 11, e63798.Research output: Contribution to journal › Article › peer-review