Publications:

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: TERT: 1953C>T; A651A

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

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Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.

European Journal Of Human Genetics : Ejhg

Bowman, Michael M; Oldridge, Michael M; Archer, Caroline C; O'Rourke, Anthony A; McParland, Joanna J; Brekelmans, Roel R; Seller, Anneke A; Lester, Tracy T

Publication Date: 2012-07

Variant appearance in text: TCS1: 1953C>T

PubMed Link: 22317976

Variant Present in the following documents:

• Main text

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