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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 EA, Ashley EA, Montgomery SB, Fisher PG, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Among authors: bowman a. Genet Med. 2024 Sep;26(9):101166. doi: 10.1016/j.gim.2024.101166. Epub 2024 May 17. Genet Med. 2024. PMID: 38767059
Inherited Retinal Degenerations and Non-Neovascular Age-Related Macular Degeneration: Progress and Unmet Needs.
Duncan JL, Bowman A, Laster A, Gelfman C, Birch DG, Boye SE, Daiger SP, Del Priore L, Zack DJ, Handa JT; Foundation Fighting Blindness Scientific Advisory Board. Duncan JL, et al. Among authors: bowman a. Transl Vis Sci Technol. 2024 Dec 2;13(12):28. doi: 10.1167/tvst.13.12.28. Transl Vis Sci Technol. 2024. PMID: 39688851 Free PMC article. Review.
862 results