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A new genomic mechanism leading to cri-du-chat syndrome.
South ST, Swensen JJ, Maxwell T, Rope A, Brothman AR, Chen Z. South ST, et al. Among authors: rope a. Am J Med Genet A. 2006 Dec 15;140(24):2714-20. doi: 10.1002/ajmg.a.31496. Am J Med Genet A. 2006. PMID: 17103439
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ. Rope AF, et al. Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017. Epub 2011 Jun 23. Am J Hum Genet. 2011. PMID: 21700266 Free PMC article.
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
Etheridge SP, Bowles NE, Arrington CB, Pilcher T, Rope A, Wilde AA, Alders M, Saarel EV, Tavernier R, Timothy KW, Tristani-Firouzi M. Etheridge SP, et al. Among authors: rope a. Am J Med Genet A. 2011 Oct;155A(10):2578-83. doi: 10.1002/ajmg.a.34223. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910241
Neural tube defects and atypical deletion on 22q11.2.
Leoni C, Stevenson DA, Geiersbach KB, Paxton CN, Krock BL, Mao R, Rope AF. Leoni C, et al. Among authors: rope af. Am J Med Genet A. 2014 Nov;164A(11):2701-6. doi: 10.1002/ajmg.a.36701. Epub 2014 Aug 13. Am J Med Genet A. 2014. PMID: 25123577 Free PMC article.
57 results