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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: huang j. 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.
Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome.
Huang Y, Grand K, Kimonis V, Butler MG, Jain S, Huang AY, Martinez-Agosto JA, Nelson SF, Sanchez-Lara PA. Huang Y, et al. Among authors: huang ay. J Med Genet. 2022 Jul;59(7):719-722. doi: 10.1136/jmedgenet-2020-107674. Epub 2021 Jun 7. J Med Genet. 2022. PMID: 34099539
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Li D, Wang Q, Gong NN, Kurolap A, Feldman HB, Boy N, Brugger M, Grand K, McWalter K, Guillen Sacoto MJ, Wakeling E, Hurst J, March ME, Bhoj EJ, Nowaczyk MJM, Gonzaga-Jauregui C, Mathew M, Dava-Wala A, Siemon A, Bartholomew D, Huang Y, Lee H, Martinez-Agosto JA, Schwaibold EMC, Brunet T, Choukair D, Pais LS, White SM, Christodoulou J, Brown D, Lindstrom K, Grebe T, Tiosano D, Kayser MS, Tan TY, Deardorff MA, Song Y, Hakonarson H. Li D, et al. Among authors: huang y. Sci Adv. 2021 May 12;7(20):eabf2066. doi: 10.1126/sciadv.abf2066. Print 2021 May. Sci Adv. 2021. PMID: 33980485 Free PMC article.
Plasma arginine levels in arginase deficiency in the "real world".
Tanpaiboon P, Huang Y, Louie JZ, Sharma R, Cederbaum S, Salazar D. Tanpaiboon P, et al. Among authors: huang y. Mol Genet Metab Rep. 2023 Dec 28;38:101042. doi: 10.1016/j.ymgmr.2023.101042. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38221915 Free PMC article.
2007 simulation education summit.
Huang YM, Pliego JF, Henrichs B, Bowyer MW, Siddall VJ, McGaghie WC, Raemer DB; 2007 Summit Consortium. Huang YM, et al. Simul Healthc. 2008 Fall;3(3):186-91. doi: 10.1097/SIH.0b013e3181828156. Simul Healthc. 2008. PMID: 19088663
Creating a Simulated Pharmacy.
Soto C, Stiner J, Noji DO, Rusheen JM, Huang YM. Soto C, et al. Simul Healthc. 2016 Jun;11(3):218-22. doi: 10.1097/SIH.0000000000000163. Simul Healthc. 2016. PMID: 27093512
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