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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. J Clin Invest. 2021 Mar 1;131(5):e142148. doi: 10.1172/JCI142148. J Clin Invest. 2021. PMID: 33645542 Free PMC article.
Single-Cell Resolution of Temporal Gene Expression during Heart Development.
DeLaughter DM, Bick AG, Wakimoto H, McKean D, Gorham JM, Kathiriya IS, Hinson JT, Homsy J, Gray J, Pu W, Bruneau BG, Seidman JG, Seidman CE. DeLaughter DM, et al. Dev Cell. 2016 Nov 21;39(4):480-490. doi: 10.1016/j.devcel.2016.10.001. Epub 2016 Nov 10. Dev Cell. 2016. PMID: 27840107 Free PMC article.
An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations.
Quiat D, Kim SW, Zhang Q, Morton SU, Pereira AC, DePalma SR, Willcox JAL, McDonough B, DeLaughter DM, Gorham JM, Curran JJ, Tumblin M, Nicolau Y, Artunduaga MA, Quintanilla-Dieck L, Osorno G, Serrano L, Hamdan U, Eavey RD, Seidman CE, Seidman JG. Quiat D, et al. Among authors: delaughter dm. Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2203928119. doi: 10.1073/pnas.2203928119. Epub 2022 May 18. Proc Natl Acad Sci U S A. 2022. PMID: 35584116 Free PMC article.
24 results