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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: baschal e. Nat Commun. 2018 Oct 9;9(1):4171. doi: 10.1038/s41467-018-06705-0. Nat Commun. 2018. PMID: 30301978 Free PMC article.
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: baschal ee. 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.
Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology.
Baschal EE, Terhune EA, Wethey CI, Baschal RM, Robinson KD, Cuevas MT, Pradhan S, Sutphin BS, Taylor MRG, Gowan K, Pearson CG, Niswander LA, Jones KL, Miller NH. Baschal EE, et al. Among authors: baschal rm. G3 (Bethesda). 2018 Jul 31;8(8):2663-2672. doi: 10.1534/g3.118.200290. G3 (Bethesda). 2018. PMID: 29930198 Free PMC article.
Sequencing of the TBX6 Gene in Families with Familial Idiopathic Scoliosis.
Baschal EE, Swindle K, Justice CM, Baschal RM, Perera A, Wethey CI, Poole A, Pourquié O, Tassy O, Miller NH. Baschal EE, et al. Among authors: baschal rm. Spine Deform. 2015 Jul;3(4):288-296. doi: 10.1016/j.jspd.2015.01.005. Spine Deform. 2015. PMID: 26120555 Free PMC article.
Identification of Novel Genes and Biological Pathways That Overlap in Infectious and Nonallergic Diseases of the Upper and Lower Airways Using Network Analyses.
Baschal EE, Larson ED, Bootpetch Roberts TC, Pathak S, Frank G, Handley E, Dinwiddie J, Moloney M, Yoon PJ, Gubbels SP, Scholes MA, Cass SP, Jenkins HA, Frank DN, Yang IV, Schwartz DA, Ramakrishnan VR, Santos-Cortez RLP. Baschal EE, et al. Front Genet. 2020 Jan 17;10:1352. doi: 10.3389/fgene.2019.01352. eCollection 2019. Front Genet. 2020. PMID: 32010199 Free PMC article.
Multi-omic studies on missense PLG variants in families with otitis media.
Bootpetch TC, Hafrén L, Elling CL, Baschal EE, Manichaikul AW, Pine HS, Szeremeta W, Scholes MA, Cass SP, Larson ED, Chan KH, Ishaq R, Prager JD, Shaikh RS, Gubbels SP, Yousaf A; University of Washington Center for Mendelian Genomics (UW-CMG); Wine TM, Bamshad MJ, Yoon PJ, Jenkins HA, Nickerson DA, Streubel SO, Friedman NR, Frank DN, Einarsdottir E, Kere J, Riazuddin S, Daly KA, Leal SM, Ryan AF, Mattila PS, Ahmed ZM, Sale MM, Chonmaitree T, Santos-Cortez RLP. Bootpetch TC, et al. Among authors: baschal ee. Sci Rep. 2020 Sep 14;10(1):15035. doi: 10.1038/s41598-020-70498-w. Sci Rep. 2020. PMID: 32929111 Free PMC article.
rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype.
Steck AK, Baschal EE, Jasinski JM, Boehm BO, Bottini N, Concannon P, Julier C, Morahan G, Noble JA, Polychronakos C, She JX, Eisenbarth GS; Type I Diabetes Genetics Consortium. Steck AK, et al. Among authors: baschal ee. Genes Immun. 2009 Dec;10 Suppl 1(Suppl 1):S21-6. doi: 10.1038/gene.2009.87. Genes Immun. 2009. PMID: 19956096 Free PMC article.
30 results