Publications:

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A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease.

Bmc Pulmonary Medicine

Zhang, Chun C; Du, Qiang Q; Wang, Sha S; Zhang, Ruifeng R

Publication Date: 2022-11-30

Variant appearance in text: EIF2AK4: 1387C>T

PubMed Link: 36451176

Variant Present in the following documents:

• Main text
• 12890_2022_Article_2256.pdf

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Good response to pulmonary arterial hypertension-targeted therapy in 2 pulmonary veno-occlusive disease patients: A case report.

Medicine

Zhang, Li L; Wang, Yao Y; Zhang, Ruifeng R

Publication Date: 2021-10-15

Variant appearance in text: EIF2AK4: 1387C>T

PubMed Link: 34731104

Variant Present in the following documents:

• medi-100-e27334.pdf

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A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.

Scientific Reports

Barozzi, Chiara C; Galletti, Margherita M; Tomasi, Luciana L; De Fanti, Sara S; Palazzini, Massimiliano M; Manes, Alessandra A; Sazzini, Marco M; Galiè, Nazzareno N

Publication Date: 2019-01-24

Variant appearance in text: EIF2AK4: 1387C>T; Arg463Ter

PubMed Link: 30679663

Variant Present in the following documents:

• Main text
• 41598_2018_Article_37277.pdf

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Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Circulation. Genomic And Precision Medicine

Zhu, Na N; Gonzaga-Jauregui, Claudia C; Welch, Carrie L CL; Ma, Lijiang L; Qi, Hongjian H; King, Alejandra K AK; Krishnan, Usha U; Rosenzweig, Erika B EB; Ivy, D Dunbar DD; Austin, Eric D ED; Hamid, Rizwan R; Nichols, William C WC; Pauciulo, Michael W MW; Lutz, Katie A KA; Sawle, Ashley A; Reid, Jeffrey G JG; Overton, John D JD; Baras, Aris A; Dewey, Frederick F; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2018-04

Variant appearance in text: EIF2AK4: R463X

PubMed Link: 29631995

Variant Present in the following documents:

• Main text

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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: EIF2AK4: R463X

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 8

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation

Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E

Publication Date: 2015-12

Variant appearance in text: EIF2AK4: 1387C>T; R463*

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

View BVdb publication page

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