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Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.
Pathmarajah P, Eid E, Nazaroff J, So J, Mittal V, Harris N, Li S, Lucky AW, Gorell ES, Peoples KG, Pope E, Lara-Corrales I, Paller AS, Wiss K, Perman MJ, Eichenfield LF, Levy ML, Morel KD, García-Romero MT, McCuaig CC, Saber M, Marinkovich MP, Oro A, Bruckner AL, Tang JY. Pathmarajah P, et al. Among authors: harris n. Br J Dermatol. 2025 Jan 10:ljaf015. doi: 10.1093/bjd/ljaf015. Online ahead of print. Br J Dermatol. 2025. PMID: 39790012
Molecular basis for plasma membrane recruitment of PI4KA by EFR3.
Suresh S, Shaw AL, Pemberton JG, Scott MK, Harris NJ, Parson MAH, Jenkins ML, Rohilla P, Alvarez-Prats A, Balla T, Yip CK, Burke JE. Suresh S, et al. Among authors: harris nj. Sci Adv. 2024 Dec 20;10(51):eadp6660. doi: 10.1126/sciadv.adp6660. Epub 2024 Dec 20. Sci Adv. 2024. PMID: 39705356 Free PMC article.
Efficient reinterpretation of rare disease cases using Exomiser.
Vestito L, Jacobsen JOB, Walker S, Cipriani V, Harris NL, Haendel MA, Mungall CJ, Robinson P, Smedley D. Vestito L, et al. Among authors: harris nl. NPJ Genom Med. 2024 Dec 18;9(1):65. doi: 10.1038/s41525-024-00456-2. NPJ Genom Med. 2024. PMID: 39695184 Free PMC article.
2,083 results