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
- Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsDeciphering Developmental Disorders, Genomics England Research Consortium & Undiagnosed Disease Network, Feb 2024, In: Genetics in Medicine. 26, 2, 101023.Research output: Contribution to journal › Article › peer-review
- A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Undiagnosed Diseases Network, Jan 4 2024, In: American journal of human genetics. 111, 1, p. 96-118 23 p.Research output: Contribution to journal › Article › peer-review
- Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathyUndiagnosed Diseases Network, 2024, (Accepted/In press) In: Annals of Clinical and Translational Neurology.Research output: Contribution to journal › Article › peer-review
- 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