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Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemień GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G. Martin EMMA, et al. Among authors: giampietro pf. Hum Mol Genet. 2020 Dec 4;29(22):3662-3678. doi: 10.1093/hmg/ddaa258. Hum Mol Genet. 2020. PMID: 33276377 Free PMC article.
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.
Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.
Alankarage D, Enriquez A, Steiner RD, Raggio C, Higgins M, Milnes D, Humphreys DT, Duncan EL, Sparrow DB, Giampietro PF, Chapman G, Dunwoodie SL. Alankarage D, et al. Among authors: giampietro pf. Differentiation. 2022 Nov-Dec;128:1-12. doi: 10.1016/j.diff.2022.09.002. Epub 2022 Sep 24. Differentiation. 2022. PMID: 36194927 Free PMC article.
A genomic approach to scoliosis pathogenesis.
Blank RD, Raggio CL, Giampietro PF, Camacho NP. Blank RD, et al. Among authors: giampietro pf. Lupus. 1999;8(5):356-60. doi: 10.1177/096120339900800505. Lupus. 1999. PMID: 10466862 Review.
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
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