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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.
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.
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.
15 results