Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
The Journal Of Clinical Investigation
Lahrouchi, Najim N; Postma, Alex V AV; Salazar, Christian M CM; De Laughter, Daniel M DM; Tjong, Fleur F; Piherová, Lenka L; Bowling, Forrest Z FZ; Zimmerman, Dominic D; Lodder, Elisabeth M EM; Ta-Shma, Asaf A; Perles, Zeev Z; Beekman, Leander L; Ilgun, Aho A; Gunst, Quinn Q; Hababa, Mariam M; Škorić-Milosavljević, Doris D; Stránecký, Viktor V; Tomek, Viktor V; de Knijff, Peter P; de Leeuw, Rick R; Robinson, Jamille Y JY; Burn, Sabrina C SC; Mustafa, Hiba H; Ambrose, Matthew M; Moss, Timothy T; Jacober, Jennifer J; Niyazov, Dmitriy M DM; Wolf, Barry B; Kim, Katherine H KH; Cherny, Sara S; Rousounides, Andreas A; Aristidou-Kallika, Aphrodite A; Tanteles, George G; Ange-Line, Bruel B; Denommé-Pichon, Anne-Sophie AS; Francannet, Christine C; Ortiz, Damara D; Haak, Monique C MC; Ten Harkel, Arend D.J. AD; Manten, Gwendolyn Tr GT; Dutman, Annemiek C AC; Bouman, Katelijne K; Magliozzi, Monia M; Radio, Francesca Clementina FC; Santen, Gijs We GW; Herkert, Johanna C JC; Brown, H Alex HA; Elpeleg, Orly O; van den Hoff, Maurice Jb MJ; Mulder, Barbara B; Airola, Michael V MV; Kmoch, Stanislav S; Barnett, Joey V JV; Clur, Sally-Ann SA; Frohman, Michael A MA; Bezzina, Connie R CR