Publications:

Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: RET: 2136+487G>T; rs3026762

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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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: rs3026762

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing.

Journal Of Thyroid Research

Margraf, R L RL; Durtschi, J D JD; Stephens, J E JE; Perez, M M; Voelkerding, K V KV

Publication Date: 2012

Variant appearance in text: RET: 2136+487G>T

PubMed Link: 22545224

Variant Present in the following documents:

• Main text
• JTR2012-318232.pdf

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Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Journal Of Biomolecular Techniques : Jbt

Margraf, Rebecca L RL; Durtschi, Jacob D JD; Dames, Shale S; Pattison, David C DC; Stephens, Jack E JE; Voelkerding, Karl V KV

Publication Date: 2011-07

Variant appearance in text: RET: 2136+487G>T

PubMed Link: 21738440

Variant Present in the following documents:

• Main text

View BVdb publication page

Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.

Plos Genetics

Kapur, Karen K; Johnson, Toby T; Beckmann, Noam D ND; Sehmi, Joban J; Tanaka, Toshiko T; Kutalik, Zoltán Z; Styrkarsdottir, Unnur U; Zhang, Weihua W; Marek, Diana D; Gudbjartsson, Daniel F DF; Milaneschi, Yuri Y; Holm, Hilma H; Diiorio, Angelo A; Waterworth, Dawn D; Li, Yun Y; Singleton, Andrew B AB; Bjornsdottir, Unnur S US; Sigurdsson, Gunnar G; Hernandez, Dena G DG; Desilva, Ranil R; Elliott, Paul P; Eyjolfsson, Gudmundur I GI; Guralnik, Jack M JM; Scott, James J; Thorsteinsdottir, Unnur U; Bandinelli, Stefania S; Chambers, John J; Stefansson, Kari K; Waeber, Gérard G; Ferrucci, Luigi L; Kooner, Jaspal S JS; Mooser, Vincent V; Vollenweider, Peter P; Beckmann, Jacques S JS; Bochud, Murielle M; Bergmann, Sven S

Publication Date: 2010-07-22

Variant appearance in text: rs3026762

PubMed Link: 20661308

Variant Present in the following documents:

• Main text
• pgen.1001035.pdf

View BVdb publication page