Publications:

Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.

Cns Neuroscience & Therapeutics

Torre-Fuentes, Laura L; Matías-Guiu, Jordi A JA; Pytel, Vanesa V; Montero-Escribano, Paloma P; Maietta, Paolo P; Álvarez, Sara S; Gómez-Pinedo, Ulises U; Matías-Guiu, Jorge J

Publication Date: 2020-11

Variant appearance in text: EDA2R: 334C>T; rs12837393

PubMed Link: 32951330

Variant Present in the following documents:

• Main text
• CNS-26-1178.pdf
• CNS-26-1178-s002.xlsx, sheet 1

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: EDA2R: P112S; rs12837393

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: EDA2R: P112S; rs12837393

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 8

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Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

Human Molecular Genetics

Carss, Keren J KJ; Hillman, Sarah C SC; Parthiban, Vijaya V; McMullan, Dominic J DJ; Maher, Eamonn R ER; Kilby, Mark D MD; Hurles, Matthew E ME

Publication Date: 2014-06-15

Variant appearance in text: rs12837393

PubMed Link: 24476948

Variant Present in the following documents:

• supp_ddu038_ddu038supp.pdf

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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: EDA2R: P112S

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page