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Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE. Delio M, et al. Am J Hum Genet. 2013 Mar 7;92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453669 Free PMC article.
Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
Patel K, Giese AP, Grossheim JM, Hegde RS, Delio M, Samanich J, Riazuddin S, Frolenkov GI, Cai J, Ahmed ZM, Morrow BE. Patel K, et al. Among authors: delio m. PLoS One. 2015 Oct 16;10(10):e0141259. doi: 10.1371/journal.pone.0141259. eCollection 2015. PLoS One. 2015. PMID: 26473954 Free PMC article. No abstract available.
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Miller EM, Patterson NE, Zechmeister JM, Bejerano-Sagie M, Delio M, Patel K, Ravi N, Quispe-Tintaya W, Maslov A, Simmons N, Castaldi M, Vijg J, Karabakhtsian RG, Greally JM, Kuo DYS, Montagna C. Miller EM, et al. Among authors: delio m. Oncotarget. 2017 Oct 26;8(60):102033-102045. doi: 10.18632/oncotarget.22116. eCollection 2017 Nov 24. Oncotarget. 2017. PMID: 29254223 Free PMC article.
19 results