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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E; Undiagnosed Diseases Network; Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV. Morimoto M, et al. NPJ Genom Med. 2023 Feb 10;8(1):4. doi: 10.1038/s41525-022-00343-8. NPJ Genom Med. 2023. PMID: 36765070 Free PMC article.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
N-of-1 Precision Medicine and Research Oversight.
Crouse A, Nakano-Okuno M, Might M, May T. Crouse A, et al. Am J Bioeth. 2019 Aug;19(8):36-37. doi: 10.1080/15265161.2019.1619871. Am J Bioeth. 2019. PMID: 31544631 No abstract available.
Recruiting diversity where it exists: The Alabama Genomic Health Initiative.
May T, Cannon A, Moss IP, Nakano-Okuno M, Hardy S, Miskell EL, Kelley WV, Curry W, East KM, Acemgil A, Schach J, Sodeke SO, Fouad MN, Johnson RD, Cimino J, Richards JL, Knight SJ, Korf B. May T, et al. J Genet Couns. 2020 Jun;29(3):471-478. doi: 10.1002/jgc4.1258. Epub 2020 Mar 27. J Genet Couns. 2020. PMID: 32220047 Free PMC article.
A state-based approach to genomics for rare disease and population screening.
East KM, Kelley WV, Cannon A, Cochran ME, Moss IP, May T, Nakano-Okuno M, Sodeke SO, Edberg JC, Cimino JJ, Fouad M, Curry WA, Hurst ACE, Bowling KM, Thompson ML, Bebin EM, Johnson RD; AGHI Consortium; Cooper GM, Might M, Barsh GS, Korf BR. East KM, et al. Genet Med. 2021 Apr;23(4):777-781. doi: 10.1038/s41436-020-01034-4. Epub 2020 Nov 27. Genet Med. 2021. PMID: 33244164 Free PMC article.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network; Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Schoch K, et al. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. Genet Med. 2021. PMID: 33093671 Free PMC article.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
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. Kobren SN, et al. Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12. Genet Med. 2021. PMID: 33580225 Free PMC article.
68 results