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Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Hum Mutat. 2002 Jan;19(1):4-15. doi: 10.1002/humu.10028.
Hum Mutat. 2002.
PMID: 11754098
Review.
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB.
Kato M, et al.
Hum Mutat. 2004 Feb;23(2):147-159. doi: 10.1002/humu.10310.
Hum Mutat. 2004.
PMID: 14722918
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Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S.
Haverfield EV, et al. Among authors: petras ks.
Eur J Hum Genet. 2009 Jul;17(7):911-8. doi: 10.1038/ejhg.2008.213. Epub 2008 Dec 3.
Eur J Hum Genet. 2009.
PMID: 19050731
Free PMC article.
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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG.
Dobyns WB, et al.
Am J Med Genet A. 2008 Jul 1;146A(13):1637-54. doi: 10.1002/ajmg.a.32293.
Am J Med Genet A. 2008.
PMID: 18536050
Free PMC article.
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Polyalanine expansion of ARX associated with cryptogenic West syndrome.
Kato M, Das S, Petras K, Sawaishi Y, Dobyns WB.
Kato M, et al.
Neurology. 2003 Jul 22;61(2):267-76. doi: 10.1212/01.wnl.0000068012.69928.92.
Neurology. 2003.
PMID: 12874418
No abstract available.
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Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L, Cavalcante de Andrade Silva M, Petras K, Arndt K, Phillips N, Wanjari P, Subramanian HP, Montes D, McElherne J, Theissen M, Briese R, Das S, Godley LA, Segal J, Del Gaudio D, Fitzpatrick C, Churpek JE.
DeRoin L, et al.
Hum Mutat. 2022 Jul;43(7):950-962. doi: 10.1002/humu.24374. Epub 2022 Apr 14.
Hum Mutat. 2022.
PMID: 35419889
Free PMC article.
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Clonal evolution underlying leukemia progression and Richter transformation in patients with ibrutinib-relapsed CLL.
Kadri S, Lee J, Fitzpatrick C, Galanina N, Sukhanova M, Venkataraman G, Sharma S, Long B, Petras K, Theissen M, Ming M, Kobzev Y, Kang W, Guo A, Wang W, Niu N, Weiner H, Thirman M, Stock W, Smith SM, Nabhan C, Segal JP, Lu P, Wang YL.
Kadri S, et al.
Blood Adv. 2017 May 2;1(12):715-727. doi: 10.1182/bloodadvances.2016003632. eCollection 2017 May 9.
Blood Adv. 2017.
PMID: 29296715
Free PMC article.
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