Publications:

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Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism.

Disease Markers

Serveaux-Dancer, Marine M; Jabaudon, Matthieu M; Creveaux, Isabelle I; Belville, Corinne C; Blondonnet, Raïko R; Gross, Christelle C; Constantin, Jean-Michel JM; Blanchon, Loïc L; Sapin, Vincent V

Publication Date: 2019

Variant appearance in text: rs1800265

PubMed Link: 30863465

Variant Present in the following documents:

• Main text
• DM2019-2067353.pdf

View BVdb publication page

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Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine

Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA

Publication Date: 2018-09

Variant appearance in text: rs1800265

PubMed Link: 30008175

Variant Present in the following documents:

• MGG3-6-749-s004.xlsx, sheet 1

View BVdb publication page

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Highly efficient RNA-guided base editing in rabbit.

Nature Communications

Liu, Zhiquan Z; Chen, Mao M; Chen, Siyu S; Deng, Jichao J; Song, Yuning Y; Lai, Liangxue L; Li, Zhanjun Z

Publication Date: 2018-07-13

Variant appearance in text: DMD: T279T

PubMed Link: 30006570

Variant Present in the following documents:

• 41467_2018_Article_5232.pdf

View BVdb publication page

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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: DMD: T279T; rs1800265

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs1800265

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s002.xlsx, sheet 1

View BVdb publication page

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Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms.

American Journal Of Medical Genetics. Part A

Kesari, Akanchha A; Neel, Robert R; Wagoner, Lynne L; Harmon, Brennan B; Spurney, Christopher C; Hoffman, Eric P EP

Publication Date: 2009-07

Variant appearance in text: DMD: Thr279Thr

PubMed Link: 19530190

Variant Present in the following documents:

• Main text
• ajmg149A-1499.pdf

View BVdb publication page

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