Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Škorić-Milosavljević, Doris D; Lahrouchi, Najim N; Bosada, Fernanda M FM; Dombrowsky, Gregor G; Williams, Simon G SG; Lesurf, Robert R; Tjong, Fleur V Y FVY; Walsh, Roddy R; El Bouchikhi, Ihssane I; Breckpot, Jeroen J; Audain, Enrique E; Ilgun, Aho A; Beekman, Leander L; Ratbi, Ilham I; Strong, Alanna A; Muenke, Maximilian M; Heide, Solveig S; Muir, Alison M AM; Hababa, Mariam M; Cross, Laura L; Zhou, Dihong D; Pastinen, Tomi T; , ; Zackai, Elaine E; Atmani, Samir S; Ouldim, Karim K; Adadi, Najlae N; Steindl, Katharina K; Rauch, Anita A; Brook, David D; Wilsdon, Anna A; Kuipers, Irene I; Blom, Nico A NA; Mulder, Barbara J BJ; Mefford, Heather C HC; Keren, Boris B; Joset, Pascal P; Kruszka, Paul P; Thiffault, Isabelle I; Sheppard, Sarah E SE; Roberts, Amy A; Lodder, Elisabeth M EM; Keavney, Bernard D BD; Clur, Sally-Ann B SB; Mital, Seema S; Hitz, Marc-Philip MP; Christoffels, Vincent M VM; Postma, Alex V AV; Bezzina, Connie R CR
Publication Date: 2021-10
Variant appearance in text: KDR: 1585A>T; Lys529Ter
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Reuter, Miriam S MS; Jobling, Rebekah R; Chaturvedi, Rajiv R RR; Manshaei, Roozbeh R; Costain, Gregory G; Heung, Tracy T; Curtis, Meredith M; Hosseini, S Mohsen SM; Liston, Eriskay E; Lowther, Chelsea C; Oechslin, Erwin E; Sticht, Heinrich H; Thiruvahindrapuram, Bhooma B; Mil, Spencer van SV; Wald, Rachel M RM; Walker, Susan S; Marshall, Christian R CR; Silversides, Candice K CK; Scherer, Stephen W SW; Kim, Raymond H RH; Bassett, Anne S AS
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature Genetics
Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M