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Page 1
Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.
Nelson TJ, McGinn DE, Crowley TB, Rockart L, Green A, Giunta V, Tran O, Miller D, Breckpot J, Swillen A, Digilio MC, Unolt M, Putotto C, Pulvirenti F, Marino B, Emanuel BS, Zackai EH, Zhang ZD, Goldmuntz E, Boot E, Bassett AS, Morrow BE, McDonald-McGinn DM. Nelson TJ, et al. Among authors: marino b. Clin Genet. 2026 May;109(5):859-868. doi: 10.1111/cge.70118. Epub 2025 Dec 8. Clin Genet. 2026. PMID: 41360439 Free PMC article.
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.
Lin JR, Miller D, Luong D, Nelson T, Crowley TB, Tran OT, Thiruvahindrapuram B, Hajianpour A, Campbell L, Busa T, Heine-Suñer D, García-Miñaúr S, Fernández L, Murphy KC, Murphy D, Hawula W, Angkustsiri K, Shashi V, Schoch K, Bearden CE, Tomita Mitchell A, Mitchell ME, Carmel M, Weizman A, Michaelovsky E, Gothelf D, van den Bree MBM, Owen MJ, Vorstman JAS, Boot E, Vingerhoets C, van Amelsvoort T, Swillen A, Breckpot J, Vermeesch JR, Devriendt K, Schneider M, Eliez S, Digilio MC, Unolt M, Putotto C, Marino B, Pontillo M, Armando M, Vicari S, Repetto GM, Kates WR, Shprintzen RJ, Gur RE, Zackai EH, Goldmuntz E, Wang T, Raj S, Emanuel BS, McDonald-McGinn DM, Scherer SC, Bassett AS, Zhang ZD, Morrow BE. Lin JR, et al. Among authors: marino b. medRxiv [Preprint]. 2026 Mar 17:2026.02.23.26346918. doi: 10.64898/2026.02.23.26346918. medRxiv. 2026. PMID: 41891037 Free PMC article. Preprint.
215 results