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Year Number of Results
2018 2
2019 3
2020 5
2021 2
2022 3
2023 1
2024 2

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Page 1
Bicuspid Aortic Valve Disease With Early Onset Complications: Characteristics And Aortic Outcomes.
Selbst MA, Laughlin MK, Ward CR, Michelena H, Sabate-Rotes A, Bianco L, De Backer J, Mosquera LM, Yetman AT, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, McBride KL, Body SC; EBAV Investigators; Prakash SK. Selbst MA, et al. medRxiv [Preprint]. 2024 Mar 13:2024.03.11.24304079. doi: 10.1101/2024.03.11.24304079. medRxiv. 2024. PMID: 38559132 Free PMC article. Preprint.
Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications.
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena H, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ; University of Washington Center for Rare Disease Research; BAVCon Investigators; EBAV Investigators; Milewicz DM, Prakash SK. Mansoorshahi S, et al. medRxiv [Preprint]. 2024 Feb 8:2024.02.07.24302406. doi: 10.1101/2024.02.07.24302406. medRxiv. 2024. PMID: 38370698 Free PMC article. Preprint.
Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve.
Carlisle SG, Albasha H, Michelena H, Sabate-Rotes A, Bianco L, De Backer J, Mosquera LM, Yetman AT, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Guo DC, Citro R, De Marco M, Tretter JT, McBride KL; EBAV Investigators; BAVCon Investigators; Milewicz DM, Body SC, Prakash SK. Carlisle SG, et al. medRxiv [Preprint]. 2023 Oct 24:2023.10.23.23297397. doi: 10.1101/2023.10.23.23297397. medRxiv. 2023. PMID: 37961530 Free PMC article. Preprint.
Copy-number variation in congenital heart disease.
Ehrlich L, Prakash SK. Ehrlich L, et al. Curr Opin Genet Dev. 2022 Dec;77:101986. doi: 10.1016/j.gde.2022.101986. Epub 2022 Oct 3. Curr Opin Genet Dev. 2022. PMID: 36202051 Review.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E, Wilsdon A, Breckpot J, Izarzugaza JMG, Fitzgerald TW, Kahlert AK, Sifrim A, Wünnemann F, Perez-Riverol Y, Abdul-Khaliq H, Bak M, Bassett AS, Benson DW, Berger F, Daehnert I, Devriendt K, Dittrich S, Daubeney PE, Garg V, Hackmann K, Hoff K, Hofmann P, Dombrowsky G, Pickardt T, Bauer U, Keavney BD, Klaassen S, Kramer HH, Marshall CR, Milewicz DM, Lemaire S, Coselli JS, Mitchell ME, Tomita-Mitchell A, Prakash SK, Stamm K, Stewart AFR, Silversides CK, Siebert R, Stiller B, Rosenfeld JA, Vater I, Postma AV, Caliebe A, Brook JD, Andelfinger G, Hurles ME, Thienpont B, Larsen LA, Hitz MP. Audain E, et al. PLoS Genet. 2021 Jul 29;17(7):e1009679. doi: 10.1371/journal.pgen.1009679. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34324492 Free PMC article.
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.
Genetics in bicuspid aortic valve disease: Where are we?
Bravo-Jaimes K, Prakash SK. Bravo-Jaimes K, et al. Prog Cardiovasc Dis. 2020 Jul-Aug;63(4):398-406. doi: 10.1016/j.pcad.2020.06.005. Epub 2020 Jun 27. Prog Cardiovasc Dis. 2020. PMID: 32599026 Free PMC article. Review.
15 results