Key Publications

  1. Whittle J, Antunes L, Harris M, Upshaw Z, Sepich DS, Johnson AN, Mokalled M, Solnica-Krezel L, Dobbs MB, Gurnett CA. MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin, EMBO Mol Med, 2020, 12(11):e12356.
  2. Sadler B, Haller G, Antunes L, Nikolov M, Amarillo I, Coe B, Dobbs MB, Gurnett CA. Rare and de novo duplications containing SHOX in clubfoot, J Med Genet, 2020, 57(12):851-7.
  3. Sadler B, Kuensting T, Strahle J, Park TS, Smyth M, Limbrick DD, Dobbs MB, Haller G, Gurnett CA. Prevalence and impact of underlying diagnosis and comorbidities on Chiari 1 malformation, Pediatr Neurol, 2020; 106:32-37.
  4. 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. Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis, J Med Genet, 2019, 56(7):427-433.
  5. Haller G, McCall K, Jenkikasemwong S, Nikolov M, Whittle J, Upshaw Z, Baschal E, Shin J, Cruchaga C, Harms M, Raggio C, Morcuende JA, Giampietro P, Miller NH, Wise CA, Gray RS, Solnica-Krezel L, Knutson M, Dobbs MB, Gurnett CA. A missense variant in SLC39A8 is associated with severe idiopathic scoliosis, Nat Comm, 9(1):4171.
  6. Haller G, Alvarado D, McCall K, Mitra RD, Dobbs MB, Gurnett CA. Massively parallel single nucleotide mutagenesis using reversibly terminated inosines, Nature Methods, 2016, 13(11):923-24.
  7. Alvarado DM, McCall K, Hecht JT, Dobbs MB, Gurnett CA. Deletions of 5′ HOXC genes are associated with lower extremity malformations including congenital vertical talus, J Med Genet, 2016, 53(4):250-5.
  8. Haller G, Alvarado D, McCall K, Yang P, Cruchaga C, Harms M, Goate A, Willing M, Morcuende JA, Baschal E, Miller NH, Wise C, Dobbs MB, Gurnett CA. A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis, Hum Mol Genet, 2016, 25(1): 202-9.
  9. Haller GE, Alvarado DM, Willing MC, Bridwell KH, Kelly M, Luhmann SJ, Lenke LG, Gurnett CA, Dobbs MB. Genetic risk for aortic aneurysm in adolescent idiopathic scoliosis, J Bone Joint Surg Am, 2015,97(17):1411-7.
  10. Buchan JG, Gray RS, Gansner JM, Alvarado DM, Burgert L, Gitlin JD, Gurnett CA, Goldsmith MI. Kinesin family member 6 (kif6) is necessary for spine development in zebrafish, Dev Dyn, 2014, 243(12):1646-57.
  11. Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, Willing MC, Grange DK, Braverman AC, Miller NH, Morcuende JA, Tang, N, Lam T, Ng BK, Cheng JC, Dobbs MB, Gurnett CA. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis, Hum Mol Genet, 2014, 23(19):5271-82.
  12. Moon DK, Gurnett CA, Aferol H, Siegel MJ, Commean PK, Dobbs MB. Soft-tissue abnormalities associated with treatment resistant and treatment-responsive clubfoot: findings of MRI analysis, J Bone Joint Surg Am, 2014, 96(14):1249-1256.
  13. Zhang TX, Haller G, Lin P, Alvarado DM, Hecht JT, Blanton SH, Richards S, Rice JP, Dobbs MB, Gurnett CA. Genome-wide association study identifies new disease loci for isolated clubfoot, J Med Genet, 2014, 51(5):334-9.
  14. Alvarado DM, Yang P, Druley TE, Lovett M, Gurnett CA. Multiplexed direct genomic selection (MDiGS): A pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection, Nucleic Acids Res, 2014, 42(10):e82.
  15. Ha K, Buchan JG, Alvarado DM, McCall K, Vydyanath A, Luther PK, Goldsmith MI, Dobbs MB, Gurnett CA. MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis, Hum Mol Genet, 2013, 22(24):4967-77.
  16. Kruse LM, Buchan JG, Gurnett CA, Dobbs MB. Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: the Carter effect, J Bone Joint Surg Am, 2012, 94(16):1485-91.
  17. Alvarado DM, Buchan JG, Frick SL, Herzenberg JE, Dobbs MB, Gurnett CA. Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development, Eur J Hum Genet, 2012, 2012; 21(4):373-80.
  18. Alvarado DM, McCall K, Aferol H, Silva MH, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA. Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice, Hum Mol Genet 2011: 20(20):3943-52.
  19. Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB. Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1, J Bone Joint Surg Am 2011: 93(11): 1045-50.
  20. Merrill LJ, Gurnett CA, Siegel M, Sonavane S, Dobbs MB. Vascular abnormalities correlate with decreased soft tissue volumes in idiopathic clubfoot, Clin Orthop Relat Res 2011: 469(5): 1442-9.
  21. Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet 2010: 19(7): 1165-73.
  22. Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA. Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4, Am J Hum Genet 2010: 87(1): 154-160.
  23. Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messenger Y, Goodfellow PJ. DICER1 mutations in familial pleuropulmonary blastoma, Science 2009: 325(5943): 965.
  24. Gurnett CA, Alaee F, Kruse LM, Desruisseau DM, Hecht JT, Wise CA, Bowcock AM, Dobbs MB. Asymmetric lower limb malformations in individuals with homeobox PITX1 gene mutations, Am J Hum Genet 2008: 83(5): 616-22.