Publications:

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: TNFRSF11A: 718A>G

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

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Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre.

Bone Reports

Rouleau, Coline C; Malorie, Margaux M; Collet, Corinne C; Porquet-Bordes, Valérie V; Gennero, Isabelle I; Eddiry, Sanaa S; Laroche, Michel M; Salles, Jean Pierre JP; Couture, Guillaume G; Edouard, Thomas T

Publication Date: 2022-06

Variant appearance in text: RANK: 718A>G; rs148185533

PubMed Link: 35252483

Variant Present in the following documents:

• main.pdf
• mmc1.xlsx, sheet 1

View BVdb publication page

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Pathological RANK signaling in B cells drives autoimmunity and chronic lymphocytic leukemia.

The Journal Of Experimental Medicine

Alankus, Begüm B; Ecker, Veronika V; Vahl, Nathalie N; Braun, Martina M; Weichert, Wilko W; Macher-Göppinger, Stephan S; Gehring, Torben T; Neumayer, Tanja T; Zenz, Thorsten T; Buchner, Maike M; Ruland, Jürgen J

Publication Date: 2021-02-01

Variant appearance in text: RANK: K240E

PubMed Link: 33075129

Variant Present in the following documents:

• Main text
• JEM_20200517.pdf

View BVdb publication page

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Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics

Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD

Publication Date: 2016-12-22

Variant appearance in text: TNFRSF11A: 616+1732A>G; K240E; rs148185533

PubMed Link: 28007035

Variant Present in the following documents:

• 12881_2016_359_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: TNFRSF11A: 718A>G; K240E; rs148185533

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: TNFRSF11A: K240E

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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