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Page 1
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 Free PMC article.
Novel variant in CADM3 causes Charcot-Marie-Tooth disease.
Yalcouyé A, Rebelo AP, Cissé L, Rives L, Bamba S, Cogan J, Esoh K, Diarra S, Ezell KM, Taméga A, Guinto CO, Dohrn MF, Hamid R, Fischbeck KH, Zuchner S, Landouré G. Yalcouyé A, et al. Among authors: ezell km. Brain Commun. 2023 Sep 5;5(5):fcad227. doi: 10.1093/braincomms/fcad227. eCollection 2023. Brain Commun. 2023. PMID: 38074074 Free PMC article.
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 EA, Ashley EA, Montgomery SB, Fisher PG, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 Sep;26(9):101166. doi: 10.1016/j.gim.2024.101166. Epub 2024 May 17. Genet Med. 2024. PMID: 38767059
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Moulton MJ, et al. Genet Med. 2024 Sep;26(9):101174. doi: 10.1016/j.gim.2024.101174. Epub 2024 Jun 3. Genet Med. 2024. PMID: 38847193
17 results