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Sphingolipids in neurodegenerative diseases.
Pan X, Dutta D, Lu S, Bellen HJ. Pan X, et al. Front Neurosci. 2023 Feb 16;17:1137893. doi: 10.3389/fnins.2023.1137893. eCollection 2023. Front Neurosci. 2023. PMID: 36875645 Free PMC article. Review.
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN, Bellen HJ. Pan X, et al. medRxiv [Preprint]. 2023 Oct 2:2023.07.17.23292782. doi: 10.1101/2023.07.17.23292782. medRxiv. 2023. Update in: Elife. 2023 Dec 11;12:RP89891. doi: 10.7554/eLife.89891 PMID: 37502976 Free PMC article. Updated. Preprint.
De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects.
Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF; Undiagnosed Diseases Network; Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ. Ma M, et al. Among authors: pan x. medRxiv [Preprint]. 2024 Jan 9:2024.01.08.23300523. doi: 10.1101/2024.01.08.23300523. medRxiv. 2024. PMID: 38260438 Free PMC article. Preprint.
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