Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TEK: A841V; rs764254208

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Screening and Functional Analysis of TEK Mutations in Chinese Children With Primary Congenital Glaucoma.

Frontiers In Genetics

Qiao, Yunsheng Y; Chen, Yuhong Y; Tan, Chen C; Sun, Xinghuai X; Chen, Xueli X; Chen, Junyi J

Publication Date: 2021

Variant appearance in text: TEK: 2522C>T; A841V

PubMed Link: 34956319

Variant Present in the following documents:

• Main text
• fgene-12-764509.pdf

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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: 2522C>T

PubMed Link: 33027505

Variant Present in the following documents:

• Main text
• iovs-61-12-6.pdf
• iovs-61-12-6_s002.pdf

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: TEK: 2522C>T; Ala841Val

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: TEK: 2522C>T; A841V

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page