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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
Lahrouchi N, Postma AV, Salazar CM, De Laughter DM, Tjong F, Piherová L, Bowling FZ, Zimmerman D, Lodder EM, Ta-Shma A, Perles Z, Beekman L, Ilgun A, Gunst Q, Hababa M, Škorić-Milosavljević D, Stránecký V, Tomek V, de Knijff P, de Leeuw R, Robinson JY, Burn SC, Mustafa H, Ambrose M, Moss T, Jacober J, Niyazov DM, Wolf B, Kim KH, Cherny S, Rousounides A, Aristidou-Kallika A, Tanteles G, Ange-Line B, Denommé-Pichon AS, Francannet C, Ortiz D, Haak MC, Ten Harkel AD, Manten GT, Dutman AC, Bouman K, Magliozzi M, Radio FC, Santen GW, Herkert JC, Brown HA, Elpeleg O, van den Hoff MJ, Mulder B, Airola MV, Kmoch S, Barnett JV, Clur SA, Frohman MA, Bezzina CR. Lahrouchi N, et al. Among authors: cherny s. J Clin Invest. 2021 Mar 1;131(5):e142148. doi: 10.1172/JCI142148. J Clin Invest. 2021. PMID: 33645542 Free PMC article.
Cardiac Evaluation of Children With a Family History of Sudden Death.
Webster G, Olson R, Schoppen ZJ, Giancola N, Balmert LC, Cherny S, George AL Jr. Webster G, et al. Among authors: cherny s. J Am Coll Cardiol. 2019 Aug 13;74(6):759-770. doi: 10.1016/j.jacc.2019.05.062. J Am Coll Cardiol. 2019. PMID: 31395126 Free PMC article.
Reply: Familial Hypercholesterolemia Causes Sudden Death.
Webster G, Olson R, Balmert LC, Cherny S, George AL Jr. Webster G, et al. Among authors: cherny s. J Am Coll Cardiol. 2019 Dec 10;74(23):2952-2953. doi: 10.1016/j.jacc.2019.09.061. J Am Coll Cardiol. 2019. PMID: 31806143 Free PMC article. No abstract available.
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
O'Grady L, Schrier Vergano SA, Hoffman TL, Sarco D, Cherny S, Bryant E, Schultz-Rogers L, Chung WK, Sacharow S, Immken LL, Holder S, Blackwell RR, Buchanan C, Yusupov R, Lecoquierre F, Guerrot AM, Rodan L, de Vries BBA, Kamsteeg EJ, Santos Simarro F, Palomares-Bralo M, Brown N, Pais L, Ferrer A, Klee EW, Babovic-Vuksanovic D, Rhodes L, Person R, Begtrup A, Keller-Ramey J, Santiago-Sim T, Schnur RE, Sweetser DA, Gold NB. O'Grady L, et al. Among authors: cherny s. Am J Med Genet A. 2022 Sep;188(9):2750-2759. doi: 10.1002/ajmg.a.62772. Epub 2022 May 11. Am J Med Genet A. 2022. PMID: 35543142
A Case for Inclusion of Genetic Counselors in Cardiac Care.
Arscott P, Caleshu C, Kotzer K, Kreykes S, Kruisselbrink T, Orland K, Rigelsky C, Smith E, Spoonamore K, Larsen Haidle J, Marvin M, Ackerman MJ, Hadi A, Mani A, Ommen S, Cherny S. Arscott P, et al. Among authors: cherny s. Cardiol Rev. 2016 Mar-Apr;24(2):49-55. doi: 10.1097/CRD.0000000000000081. Cardiol Rev. 2016. PMID: 26186385 Free PMC article. Review.
202 results