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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.
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.
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.
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.
Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.
Giampietro PF, Pourquie O, Raggio C, Ikegawa S, Turnpenny PD, Gray R, Dunwoodie SL, Gurnett CA, Alman B, Cheung K, Kusumi K, Hadley-Miller N, Wise CA. Giampietro PF, et al. Am J Med Genet A. 2018 Jan;176(1):253-256. doi: 10.1002/ajmg.a.38550. Epub 2017 Nov 21. Am J Med Genet A. 2018. PMID: 29159998 Free PMC article.
Molecular diagnosis of vertebral segmentation disorders in humans.
Giampietro PF, Dunwoodie SL, Kusumi K, Pourquié O, Tassy O, Offiah AC, Cornier AS, Alman BA, Blank RD, Raggio CL, Glurich I, Turnpenny PD. Giampietro PF, et al. Expert Opin Med Diagn. 2008 Oct;2(10):1107-21. doi: 10.1517/17530059.2.10.1107. Expert Opin Med Diagn. 2008. PMID: 23496422
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