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104 results

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Page 1
Deep Learning-Based Automated Measurement of Murine Bone Length in Radiographs.
Rong R, Denton K, Jin KW, Quan P, Wen Z, Kozlitina J, Lyon S, Wang A, Wise CA, Beutler B, Yang DM, Li Q, Rios JJ, Xiao G. Rong R, et al. Among authors: wise ca. Bioengineering (Basel). 2024 Jul 1;11(7):670. doi: 10.3390/bioengineering11070670. Bioengineering (Basel). 2024. PMID: 39061752 Free PMC article.
Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1.
Paria N, Khalid A, Shen B, Lemoine B, Chan J, Kidane YH, Oxendine I, Cornelia R, Wise CA, Rios JJ. Paria N, et al. Among authors: wise ca. J Bone Miner Res. 2023 Feb;38(2):288-299. doi: 10.1002/jbmr.4755. Epub 2022 Dec 13. J Bone Miner Res. 2023. PMID: 36459048 Free PMC article.
Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality.
Ushiki A, Sheng RR, Zhang Y, Zhao J, Nobuhara M, Murray E, Ruan X, Rios JJ, Wise CA, Ahituv N. Ushiki A, et al. Among authors: wise ca. bioRxiv [Preprint]. 2023 Apr 13:2023.04.12.536497. doi: 10.1101/2023.04.12.536497. bioRxiv. 2023. Update in: Cell Rep. 2024 Mar 26;43(3):113907. doi: 10.1016/j.celrep.2024.113907 PMID: 37090618 Free PMC article. Updated. Preprint.
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, Ladha FA, Hanchard NA, Atala K, Khanshour AM, Smith L, Wise CA, Delgado MR. Rios JJ, et al. Among authors: wise ca. Am J Hum Genet. 2023 Dec 7;110(12):2103-2111. doi: 10.1016/j.ajhg.2023.10.009. Epub 2023 Nov 3. Am J Hum Genet. 2023. PMID: 37924809 Free PMC article.
Impaired glycine neurotransmission causes adolescent idiopathic scoliosis.
Wang X, Yue M, Cheung JPY, Cheung PWH, Fan Y, Wu M, Wang X, Zhao S, Khanshour AM, Rios JJ, Chen Z, Wang X, Tu W, Chan D, Yuan Q, Qin D, Qiu G, Wu Z, Zhang TJ, Ikegawa S, Wu N, Wise CA, Hu Y, Luk KDK, Song YQ, Gao B. Wang X, et al. Among authors: wise ca. J Clin Invest. 2024 Jan 16;134(2):e168783. doi: 10.1172/JCI168783. J Clin Invest. 2024. PMID: 37962965 Free PMC article.
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Moulton MJ, et al. Among authors: wise ca. Genet Med. 2024 Sep;26(9):101174. doi: 10.1016/j.gim.2024.101174. Epub 2024 Jun 3. Genet Med. 2024. PMID: 38847193
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
Jolly A, Du H, Borel C, Chen N, Zhao S, Grochowski CM, Duan R, Fatih JM, Dawood M, Salvi S, Jhangiani SN, Muzny DM, Koch A, Rouskas K, Glentis S, Deligeoroglou E, Bacopoulou F, Wise CA, Dietrich JE, Van den Veyver IB, Dimas AS, Brucker S, Sutton VR, Gibbs RA, Antonarakis SE, Wu N, Coban-Akdemir ZH, Zhu L, Posey JE, Lupski JR. Jolly A, et al. Among authors: wise ca. HGG Adv. 2023 Mar 29;4(3):100188. doi: 10.1016/j.xhgg.2023.100188. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37124138 Free PMC article.
104 results