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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. 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.
Positive Selection on Loci Associated with Drug and Alcohol Dependence.
Sadler B, Haller G, Edenberg H, Tischfield J, Brooks A, Kramer J, Schuckit M, Nurnberger J, Goate A. Sadler B, et al. PLoS One. 2015 Aug 13;10(8):e0134393. doi: 10.1371/journal.pone.0134393. eCollection 2015. PLoS One. 2015. PMID: 26270548 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: sadler b. 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. 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.
The genetics of isolated and syndromic clubfoot.
Sadler B, Gurnett CA, Dobbs MB. Sadler B, et al. J Child Orthop. 2019 Jun 1;13(3):238-244. doi: 10.1302/1863-2548.13.190063. J Child Orthop. 2019. PMID: 31312262 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. 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. 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.
151 results