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Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U. Giampietro PF, et al. Am J Med Genet A. 2015 Jan;167A(1):95-102. doi: 10.1002/ajmg.a.36799. Epub 2014 Oct 27. Am J Med Genet A. 2015. PMID: 25348728
MECP2 duplication: possible cause of severe phenotype in females.
Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF. Scott Schwoerer J, et al. Among authors: giampietro pf. Am J Med Genet A. 2014 Apr;164A(4):1029-34. doi: 10.1002/ajmg.a.36380. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458799
Heterozygous mutations in the T (brachyury) gene.
Giampietro PF, Raggio CL, Blank RD. Giampietro PF, et al. J Med Genet. 2014 May;51(5):354. doi: 10.1136/jmedgenet-2014-102308. Epub 2014 Feb 20. J Med Genet. 2014. PMID: 24556085 No abstract available.
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.
Al Dhaheri N, Wu N, Zhao S, Wu Z, Blank RD, Zhang J, Raggio C, Halanski M, Shen J, Noonan K, Qiu G, Nemeth B, Sund S, Dunwoodie SL, Chapman G, Glurich I, Steiner RD, Wohler E, Martin R, Sobreira NL, Giampietro PF. Al Dhaheri N, et al. Among authors: giampietro pf. Am J Med Genet A. 2020 Jul;182(7):1664-1672. doi: 10.1002/ajmg.a.61607. Epub 2020 May 5. Am J Med Genet A. 2020. PMID: 32369272 Free PMC article.
120 results