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Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Among authors: huang h. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC, Dai H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG, Kim H, Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E, Silverman GA, Baldridge D, Wambach JA; Undiagnosed Diseases Network; Pak SC, Brody SL, Schedl T. Huang H, et al. Among authors: huang t. Proc Natl Acad Sci U S A. 2022 Feb 8;119(6):e2105228119. doi: 10.1073/pnas.2105228119. Proc Natl Acad Sci U S A. 2022. PMID: 35121658 Free PMC article.
CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans.
Thomas BJ, Wight IE, Chou WYY, Moreno M, Dawson Z, Homayouni A, Huang H, Kim H, Jia H, Buland JR, Wambach JA, Cole FS, Pak SC, Silverman GA, Luke CJ. Thomas BJ, et al. Among authors: huang h. PLoS One. 2019 Mar 26;14(3):e0214257. doi: 10.1371/journal.pone.0214257. eCollection 2019. PLoS One. 2019. PMID: 30913273 Free PMC article.
Experimental Limits on Solar Reflected Dark Matter with a New Approach on Accelerated-Dark-Matter-Electron Analysis in Semiconductors.
Zhang ZY, Yang LT, Yue Q, Kang KJ, Li YJ, An HP, C G, Chang JP, Chen YH, Cheng JP, Dai WH, Deng Z, Fang CH, Geng XP, Gong H, Guo QJ, Guo T, Guo XY, He L, He SM, Hu JW, Huang HX, Huang TC, Jiang L, Karmakar S, Li HB, Li HY, Li JM, Li J, Li QY, Li RMJ, Li XQ, Li YL, Liang YF, Liao B, Lin FK, Lin ST, Liu JX, Liu SK, Liu YD, Liu Y, Liu YY, Ma H, Mao YC, Nie QY, Ning JH, Pan H, Qi NC, Ren J, Ruan XC, Singh MK, Sun TX, Tang CJ, Tian Y, Wang GF, Wang JZ, Wang L, Wang Q, Wang YF, Wang YX, Wong HT, Wu SY, Wu YC, Xing HY, Xu R, Xu Y, Xue T, Yan YL, Yi N, Yu CX, Yu HJ, Yue JF, Zeng M, Zeng Z, Zhang BT, Zhang FS, Zhang L, Zhang ZH, Zhao JZ, Zhao KK, Zhao MG, Zhou JF, Zhou ZY, Zhu JJ; CDEX Collaboration. Zhang ZY, et al. Among authors: huang hx. Phys Rev Lett. 2024 Apr 26;132(17):171001. doi: 10.1103/PhysRevLett.132.171001. Phys Rev Lett. 2024. PMID: 38728703
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