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Novel variant in CADM3 causes Charcot-Marie-Tooth disease.
Brain Commun. 2023 Sep 5;5(5):fcad227. doi: 10.1093/braincomms/fcad227. eCollection 2023.
Brain Commun. 2023.
PMID: 38074074
Free PMC article.
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
Tinker RJ, Bastarache L, Ezell K, Kobren SN, Esteves C, Rosenfeld JA, Macnamara EF, Hamid R, Cogan JD, Rinker D, Mukharjee S, Glass I, Dipple K, Phillips JA 3rd; Undiagnosed Diseases Network.
Tinker RJ, et al.
Am J Med Genet A. 2023 Oct;191(10):2482-2492. doi: 10.1002/ajmg.a.63309. Epub 2023 May 29.
Am J Med Genet A. 2023.
PMID: 37246601
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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
Dohrn MF, Bademci G, Rebelo AP, Jeanne M, Borja NA, Beijer D, Danzi MC, Bivona SA, Gueguen P, Zafeer MF; Undiagnosed Diseases Network; Tekin M, Züchner S.
Dohrn MF, et al.
Ann Clin Transl Neurol. 2024 Apr;11(4):1075-1079. doi: 10.1002/acn3.51963. Epub 2024 Mar 19.
Ann Clin Transl Neurol. 2024.
PMID: 38504481
Free PMC article.
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Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
Ezell KM, Tinker RJ, Furuta Y, Gulsevin A, Bastarache L, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Kozuria M, Phillips JA 3rd; Undiagnosed Diseases Network.
Ezell KM, et al.
Am J Med Genet A. 2024 Mar 21:e63597. doi: 10.1002/ajmg.a.63597. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38511854
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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT.
Kohler JN, et al.
Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print.
Genet Med. 2024.
PMID: 38767059
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Data from electronic healthcare records expand our understanding of X-linked genetic diseases.
Tinker RJ, Bastarache L, Ezell K, Neumann SM, Furuta Y, Morgan KA, Phillips JA 3rd.
Tinker RJ, et al.
Am J Med Genet A. 2024 May;194(5):e63527. doi: 10.1002/ajmg.a.63527. Epub 2024 Jan 16.
Am J Med Genet A. 2024.
PMID: 38229216
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