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Page 1
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.
Terhune EA, Cuevas MT, Monley AM, Wethey CI, Chen X, Cattell MV, Bayrak MN, Bland MR, Sutphin B, Trahan GD, Taylor MRG, Niswander LA, Jones KL, Baschal EE, Antunes L, Dobbs M, Gurnett C, Appel B, Gray R, Hadley Miller N. Terhune EA, et al. Among authors: antunes l. Hum Mutat. 2021 Apr;42(4):392-407. doi: 10.1002/humu.24162. Epub 2021 Feb 7. Hum Mutat. 2021. PMID: 33382518 Free PMC article.
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis.
Haller G, McCall K, Jenkitkasemwong S, Sadler B, Antunes L, Nikolov M, Whittle J, Upshaw Z, Shin J, Baschal E, Cruchaga C, Harms M, Raggio C, Morcuende JA, Giampietro P, Miller NH, Wise C, Gray RS, Solnica-Krezel L, Knutson M, Dobbs MB, Gurnett CA. Haller G, et al. Among authors: antunes l. Nat Commun. 2018 Oct 9;9(1):4171. doi: 10.1038/s41467-018-06705-0. Nat Commun. 2018. PMID: 30301978 Free PMC article.
Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.
Sadler B, Haller G, Antunes L, Bledsoe X, Morcuende J, Giampietro P, Raggio C, Miller N, Kidane Y, Wise CA, Amarillo I, Walton N, Seeley M, Johnson D, Jenkins C, Jenkins T, Oetjens M, Tong RS, Druley TE, Dobbs MB, Gurnett CA. Sadler B, et al. Among authors: antunes l. J Med Genet. 2019 Jul;56(7):427-433. doi: 10.1136/jmedgenet-2018-105877. Epub 2019 Feb 25. J Med Genet. 2019. PMID: 30803986 Free PMC article.
Rare and de novo duplications containing SHOX in clubfoot.
Sadler B, Haller G, Antunes L, Nikolov M, Amarillo I, Coe B, Dobbs MB, Gurnett CA. Sadler B, et al. Among authors: antunes l. J Med Genet. 2020 Dec;57(12):851-857. doi: 10.1136/jmedgenet-2020-106842. Epub 2020 Jun 9. J Med Genet. 2020. PMID: 32518174 Free PMC article.
Rare and de novo coding variants in chromodomain genes in Chiari I malformation.
Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Brunetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Sadler B, et al. Among authors: antunes l. Am J Hum Genet. 2021 Jan 7;108(1):100-114. doi: 10.1016/j.ajhg.2020.12.001. Epub 2020 Dec 21. Am J Hum Genet. 2021. PMID: 33352116 Free PMC article.
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng R, Zhang Y, Pei J, Grishin NV, Evers BM, Cheung JPY, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA. Yu H, et al. Among authors: antunes l. bioRxiv [Preprint]. 2023 Nov 22:2023.05.26.542293. doi: 10.1101/2023.05.26.542293. bioRxiv. 2023. Update in: Elife. 2024 Jan 26;12:RP89762. doi: 10.7554/eLife.89762 PMID: 37292598 Free PMC article. Updated. Preprint.
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng RR, Zhang Y, Pei J, Grishin NV, Evers BM, Cheung JPY, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA. Yu H, et al. Among authors: antunes l. Elife. 2024 Jan 26;12:RP89762. doi: 10.7554/eLife.89762. Elife. 2024. PMID: 38277211 Free PMC article.
Rare and de novo coding variants in chromodomain genes in Chiari I malformation.
Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Brunetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Sadler B, et al. Among authors: antunes l. Am J Hum Genet. 2021 Feb 4;108(2):368. doi: 10.1016/j.ajhg.2020.12.015. Am J Hum Genet. 2021. PMID: 33545031 Free PMC article. No abstract available.
843 results