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Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.
Musfee FI, Guo D, Pinard AC, Hostetler EM, Blue EE, Nickerson DA; University of Washington Center for Mendelian Genomics (UW-CMG); Bamshad MJ, Milewicz DM, Prakash SK. Musfee FI, et al. Mol Genet Genomic Med. 2020 Oct;8(10):e1406. doi: 10.1002/mgg3.1406. Epub 2020 Aug 3. Mol Genet Genomic Med. 2020. PMID: 32748548 Free PMC article.
X-chromosome association studies of congenital heart defects.
Agopian AJ, Hoang TT, Goldmuntz E, Hakonarson H, Musfee FI, Mitchell LE; Pediatric Cardiac Genomics Consortium. Agopian AJ, et al. Among authors: musfee fi. Am J Med Genet A. 2020 Jan;182(1):250-254. doi: 10.1002/ajmg.a.61411. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729158 Free PMC article. No abstract available.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium; Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE. Zhao Y, et al. Among authors: musfee fi. Am J Hum Genet. 2020 Jan 2;106(1):26-40. doi: 10.1016/j.ajhg.2019.11.010. Epub 2019 Dec 20. Am J Hum Genet. 2020. PMID: 31870554 Free PMC article.
Maternal Hypertension-Related Genotypes and Congenital Heart Defects.
Lei Y, Ludorf KL, Yu X, Benjamin RH, Gu X, Lin Y, Finnell RH, Mitchell LE, Musfee FI, Malik S, Canfield MA, Morrison AC, Hobbs CA, Van Zutphen AR, Fisher S, Agopian AJ. Lei Y, et al. Among authors: musfee fi. Am J Hypertens. 2021 Feb 18;34(1):82-91. doi: 10.1093/ajh/hpaa116. Am J Hypertens. 2021. PMID: 32710738 Free PMC article.
Maternal effect genes as risk factors for congenital heart defects.
Musfee FI, Oluwafemi OO, Agopian AJ, Hakonarson H, Goldmuntz E, Mitchell LE. Musfee FI, et al. HGG Adv. 2022 Mar 9;3(2):100098. doi: 10.1016/j.xhgg.2022.100098. eCollection 2022 Apr 14. HGG Adv. 2022. PMID: 35345810 Free PMC article.
15 results