Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TEK: 448G>T; Glu150Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: TEK: 448G>T; Glu150*

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s002.xlsx, sheet 1

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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: E150*

PubMed Link: 27270174

Variant Present in the following documents:

• Main text

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