Genomic Analysis of Human Spinal Deformity and Characterization of a Zebrafish Disease Model

Kristen F. Gorman, Stephen J. Tredwell, Felix Breden, The mutant guppy syndrome curveback as a model for human heritable spinal curvature. Spine. ,vol. 32, pp. 735- 741 ,(2007) , 10.1097/01.BRS.0000259081.40354.E2

Brien Michael Rabenhorst, Sumeet Garg, J. Anthony Herring, Posterior spinal fusion in patients with Ehlers–Danlos syndrome: a report of six cases Journal of Children's Orthopaedics. ,vol. 6, pp. 131- 136 ,(2012) , 10.1007/S11832-012-0393-3

Hussam Al-Kateb, Geetika Khanna, Isabel Filges, Natalie Hauser, Dorothy K. Grange, Joseph Shen, Christopher D. Smyser, Shashikant Kulkarni, Marwan Shinawi, Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement American Journal of Medical Genetics Part A. ,vol. 164, pp. 1118- 1126 ,(2014) , 10.1002/AJMG.A.36401

Yan-Hui Fan, You-Qiang Song, Danny Chan, Yohei Takahashi, Shiro Ikegawa, Morio Matsumoto, Ikuyo Kou, Kathryn SE Cheah, Pak Sham, Kenneth Cheung, Keith DK Luk, None, SNP rs11190870 near LBX1 is associated with adolescent idiopathic scoliosis in southern Chinese. Journal of Human Genetics. ,vol. 57, pp. 244- 246 ,(2012) , 10.1038/JHG.2012.11

Nancy H. Miller, Cristina M. Justice, Beth Marosy, Kandice Swindle, Yoonhee Kim, Marie-Hélène Roy-Gagnon, Heejong Sung, Dana Behneman, Kimberly F. Doheny, Elizabeth Pugh, Alexander F. Wilson, Intra-familial tests of association between familial idiopathic scoliosis and linked regions on 9q31.3-q34.3 and 16p12.3-q22.2. Human Heredity. ,vol. 74, pp. 36- 44 ,(2012) , 10.1159/000343751

Nancy H. Miller, Cristina M. Justice, Beth Marosy, Kimberly F. Doheny, Elizabeth Pugh, Jun Zhang, Harry C. Dietz, Alexander F. Wilson, Identification of candidate regions for familial idiopathic scoliosis. Spine. ,vol. 30, pp. 1181- 1187 ,(2005) , 10.1097/01.BRS.0000162282.46160.0A

Maria A. Ramos Arroyo, David D. Weaver, Rodney K. Beals, Congenital contractural arachnodactyly. Report of four additional families and review of literature. Clinical Genetics. ,vol. 27, pp. 570- 581 ,(2008) , 10.1111/J.1399-0004.1985.TB02042.X

Wenjie Gao, Yan Peng, Guoyan Liang, Anjing Liang, Wei Ye, Liangming Zhang, Swarkar Sharma, Peiqiang Su, Dongsheng Huang, Association between Common Variants near LBX1 and Adolescent Idiopathic Scoliosis Replicated in the Chinese Han Population PLOS ONE. ,vol. 8, ,(2013) , 10.1371/JOURNAL.PONE.0053234

Harry C. Dietz, Carry R. Cutting, Reed E. Pyeritz, Cheryl L. Maslen, Lynn Y Sakai, Glen M Corson, Erik G. Puffenberger, Ada Hamosh, Elizabeth J. Nanthakumar, Sheila M. Curristin, Gail Stetten, Deborah A. Meyers, Clair A. Francomano, Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. ,vol. 352, pp. 337- 339 ,(1991) , 10.1038/352337A0

Nicholas J Schork, Sarah S Murray, Kelly A Frazer, Eric J Topol, Common vs. rare allele hypotheses for complex diseases Current Opinion in Genetics & Development. ,vol. 19, pp. 212- 219 ,(2009) , 10.1016/J.GDE.2009.04.010