Publications:

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.

Investigative Ophthalmology & Visual Science

Young, Terri L TL; Whisenhunt, Kristina N KN; Jin, Jing J; LaMartina, Sarah M SM; Martin, Sean M SM; Souma, Tomokazu T; Limviphuvadh, Vachiranee V; Suri, Fatemeh F; Souzeau, Emmanuelle E; Zhang, Xue X; Dan, Yongwook Y; Anagnos, Evie E; Carmona, Susana S; Jody, Nicole M NM; Stangel, Nickie N; Higuchi, Emily C EC; Huang, Samuel J SJ; Siggs, Owen M OM; Simões, Maria José MJ; Lawson, Brendan M BM; Martin, Jacob S JS; Elahi, Elahe E; Narooie-Nejad, Mehrnaz M; Motlagh, Behzad Fallahi BF; Quaggin, Susan E SE; Potter, Heather D HD; Silva, Eduardo D ED; Craig, Jamie E JE; Egas, Conceição C; Maroofian, Reza R; Maurer-Stroh, Sebastian S; Bradfield, Yasmin S YS; Tompson, Stuart W SW

Publication Date: 2020-10-01

Variant appearance in text: TEK: D982A

PubMed Link: 33027505

Variant Present in the following documents:

• Main text
• iovs-61-12-6.pdf

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Context-dependent functions of angiopoietin 2 are determined by the endothelial phosphatase VEPTP.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Souma, Tomokazu T; Thomson, Benjamin R BR; Heinen, Stefan S; Carota, Isabel Anna IA; Yamaguchi, Shinji S; Onay, Tuncer T; Liu, Pan P; Ghosh, Asish K AK; Li, Chengjin C; Eremina, Vera V; Hong, Young-Kwon YK; Economides, Aris N AN; Vestweber, Dietmar D; Peters, Kevin G KG; Jin, Jing J; Quaggin, Susan E SE

Publication Date: 2018-02-06

Variant appearance in text: TIE2: D982A

PubMed Link: 29358379

Variant Present in the following documents:

• pnas.201714446SI.pdf

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Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

The Journal Of Clinical Investigation

Souma, Tomokazu T; Tompson, Stuart W SW; Thomson, Benjamin R BR; Siggs, Owen M OM; Kizhatil, Krishnakumar K; Yamaguchi, Shinji S; Feng, Liang L; Limviphuvadh, Vachiranee V; Whisenhunt, Kristina N KN; Maurer-Stroh, Sebastian S; Yanovitch, Tammy L TL; Kalaydjieva, Luba L; Azmanov, Dimitar N DN; Finzi, Simone S; Mauri, Lucia L; Javadiyan, Shahrbanou S; Souzeau, Emmanuelle E; Zhou, Tiger T; Hewitt, Alex W AW; Kloss, Bethany B; Burdon, Kathryn P KP; Mackey, David A DA; Allen, Keri F KF; Ruddle, Jonathan B JB; Lim, Sing-Hui SH; Rozen, Steve S; Tran-Viet, Khanh-Nhat KN; Liu, Xiaorong X; John, Simon S; Wiggs, Janey L JL; Pasutto, Francesca F; Craig, Jamie E JE; Jin, Jing J; Quaggin, Susan E SE; Young, Terri L TL

Publication Date: 2016-07-01

Variant appearance in text: TEK: D982A

PubMed Link: 27270174

Variant Present in the following documents:

• Main text

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