Publications:

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

Publication Date: 2017-11

Variant appearance in text: CP: W644X

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 7

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Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

Plos One

Lipska-Ziętkiewicz, Beata S BS; Gellermann, Jutta J; Boyer, Olivia O; Gribouval, Olivier O; Ziętkiewicz, Szymon S; Kari, Jameela A JA; Shalaby, Mohamed A MA; Ozaltin, Fatih F; Dusek, Jiri J; Melk, Anette A; Bayazit, Aysun K AK; Massella, Laura L; Hyla-Klekot, Lidia L; Habbig, Sandra S; Godron, Astrid A; Szczepańska, Maria M; Bieniaś, Beata B; Drożdż, Dorota D; Odeh, Rasha R; Jarmużek, Wioletta W; Zachwieja, Katarzyna K; Trautmann, Agnes A; Antignac, Corinne C; Schaefer, Franz F; ,

Publication Date: 2017

Variant appearance in text: CP: 1931G>A

PubMed Link: 28796785

Variant Present in the following documents:

• pone.0180926.s003.pdf

View BVdb publication page