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Sphingolipids in neurodegenerative diseases.
Pan X, Dutta D, Lu S, Bellen HJ. Pan X, et al. Among authors: bellen hj. Front Neurosci. 2023 Feb 16;17:1137893. doi: 10.3389/fnins.2023.1137893. eCollection 2023. Front Neurosci. 2023. PMID: 36875645 Free PMC article. Review.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Among authors: bellen hj. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.
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. Among authors: bellen hj. 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.
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Huang Y, et al. Among authors: bellen hj. Genet Med. 2024 Nov;26(11):101218. doi: 10.1016/j.gim.2024.101218. Epub 2024 Jul 19. Genet Med. 2024. PMID: 39036895 Free article.
392 results