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Representative Publications

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Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D, Reutter H, Giampietro PF. Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A. 2012 Dec;158A(12):3087-100. PMID: 23165726.

McPherson E, Thomas GD, Manlick C, Zaleski CA, Reynolds KK, Rasmussen K, Giampietro PF, Wiley C, Mascola M. Extreme values of maternal serum analytes in second trimester screening: looking beyond trisomy and NTD's. J Genet Couns. 2011Aug;20(4):396-403. PMID: 21505920.

Giampietro PF, Dunwoodie SL, Kusumi K, Pourquie O, Tassy O, Offiah A, Cornier AS, Alman BA, Blank RD, Raggio CL, Glurich I, Turnpenny PD. Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans. Ann N Y Acad Sci. 2009 Jan;1151:38-67. PMID: 19154516.

Offiah A, Alman B, Cornier AS, Giampietro PF, Tassy O, Wade A, Turnpenny PD. Pilot Assessment of a Radiologic Assessment Classification System for Segmentation Defects of the Vertebrae. Am J Med Genet A. 2010 Jun;152A(6):1357-71. PMID: 20503308.

Giampietro PF (2010). Progress in Understanding Genetic Contributions in Syndromic and Non-Syndromic Disorders Associated with Congenital Neuromuscular, and Idiopathic Scoliosis. In Kenro Kusumi, Sally L. Dunwoodie, The Genetics and Development of Scoliosis (pp. 127-152) New York: Springer.

Raggio CL, Giampietro PF, Dobrin D, Zhao C, Dorshorst D, Ghebranious N, James L. Weber L, Blank RD A novel locus for adolescent idiopathic scoliosis on chromosome 12p. J Orthop Res. 2009 Oct;27(10):1366-72. PMID: 19340878.

Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, Bamforth S, Doschak MR, Li G, D Dobbs MB, Giampietro PF, Brooks BP, Vijayalakshmi P, Sauvé Y, Abitbol M, Sundaresan P, Heyningen VV, Pourquié O, Underhill TM, Waskiewicz AJ, Lehmann OJ. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet. 2009 18(6):1110-21. Epub 2009 Jan. PMID: 19129173.

Giampietro PF, Dunwoodie SL, Kusumi K, Pourquie O, Tassy O, Offiah A, Cornier AS, Alman BA, Blank RD, Raggio CL, Glurich I, Turnpenny PD. Molecular Diagnosis of Vertebral Segmentation Disorders in Humans. Expert Opinion in Medical Diagnostics. 2008; 2: 1107-1121. PMID: 23496422.

Ghebranious N, Blank RD, Raggio C, Staubli J, McPherson E, Ivacic L, Rasmussen K, Jacobsen F Stig, Faciszewski T, Burmester JK, Pauli RM , Boachie-Adjei O, Glurich I, Giampietro PF. A Missense T(Brachyury) Mutation Contributes to Vertebral Malformations. J Bone Miner Res 2008; 23: 1576-1583. PMID: 18466071.

Ghebranious N, Raggio CL, Blank RD, McPherson E, Burmester JK, Ivacic L, Rasmussen K, Kislow J, Glurich I, Jacobsen FS, Faciszewski T, Pauli RM, Boachie-Adjei O, Giampietro PF. Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations. Scoliosis. 2007 Sep 23;2(1):13. PMID: 17888180.

Turnpenny PD, Alman B, Cornier AS, Giampietro PF, Offiah A, Tassy O, Pourquie O, Kusumi K, Dunwoodie S. Abnormal vertebral segmentation and the notch signaling pathway in man. Dev Dyn 2007;236:1456-1474. PMID: 17497699.

Giampietro PF, Raggio CL, Reynolds CE, Ghebranious N, Burmester JK, Glurich IE, Rasmussen K, McPherson EW, Pauli RM, Shukla SK, Merchant S, Jacobsen FS, Faciszewski T, Blank RD. DLL3 as a candidate gene for vertebral malformations. Am J Med Genet A. 2006 Nov 15;140(22):2447-53. PMID: 17041936.

Ghebranious N, Burmester JK, Glurich IE, McPherson EW, Ivacic LC, Kislow JL, Rasmussen K, Kumar VR, Raggio CL, Blank RD, Jacobsen FS, Faciszewski T, Womack J, Giampietro PF. Evaluation of SLC35A3 as a candidate gene for human vertebral malformations. Am J Med Genet A 2006;140:1346-1348. PMID: 16691598.


Last updated: 03/12/2014
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