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

  • Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairmentUndiagnosed Diseases Network, Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Dec 2023, In: npj Genomic Medicine. 8, 1, 4.Research output: Contribution to journal › Article › peer-review
  • Participation in a national diagnostic research study: assessing the patient experienceThe Undiagnosed Diseases Network, Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 73.Research output: Contribution to journal › Article › peer-review
  • Continuing a search for a diagnosis: the impact of adolescence and family dynamicsUndiagnosed Disease Network, Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Solnica-Krezel, L. & Wambach, J., Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 6.Research output: Contribution to journal › Article › peer-review
  • Macrocephaly and developmental delay caused by missense variants in RAB5CKoop, K., Yuan, W., Tessadori, F., Rodriguez-Polanco, W. R., Grubbs, J., Zhang, B., Osmond, M., Graham, G., Sawyer, S., Conboy, E., Vetrini, F., Treat, K., Płoski, R., Pienkowski, V. M., Kłosowska, A., Fieg, E., Krier, J., Mallebranche, C., Alban, Z., Aldinger, K. A., & 28 othersRitter, D., MacNamara, E., Sullivan, B., Herriges, J., Alaimo, J. T., Helbig, C., Ellis, C. A., Van Eyk, C., Gecz, J., Farrugia, D., Osei-Owusu, I., Adès, L., Van Den Boogaard, M. J., Fuchs, S., Bakker, J., Duran, K., Dawson, Z. D., Lindsey, A., Huang, H., Baldridge, […]
  • Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical CareUndiagnosed Diseases Network, Oct 2023, In: Journal of Pediatrics. 261, 113537.Research output: Contribution to journal › Article › peer-review

Complete bibliography