Publications:

Whole-genome profiling of nasopharyngeal carcinoma reveals viral-host co-operation in inflammatory NF-κB activation and immune escape.

Nature Communications

Bruce, Jeff P JP; To, Ka-Fai KF; Lui, Vivian W Y VWY; Chung, Grace T Y GTY; Chan, Yuk-Yu YY; Tsang, Chi Man CM; Yip, Kevin Y KY; Ma, Brigette B Y BBY; Woo, John K S JKS; Hui, Edwin P EP; Mak, Michael K F MKF; Lee, Sau-Dan SD; Chow, Chit C; Velapasamy, Sharmila S; Or, Yvonne Y Y YYY; Siu, Pui Kei PK; El Ghamrasni, Samah S; Prokopec, Stephenie S; Wu, Man M; Kwan, Johnny S H JSH; Liu, Yuchen Y; Chan, Jason Y K JYK; van Hasselt, C Andrew CA; Young, Lawrence S LS; Dawson, Christopher W CW; Paterson, Ian C IC; Yap, Lee-Fah LF; Tsao, Sai-Wah SW; Liu, Fei-Fei FF; Chan, Anthony T C ATC; Pugh, Trevor J TJ; Lo, Kwok-Wai KW

Publication Date: 2021-07-07

Variant appearance in text: RYR1: 4094delG; G1365Efs*33

PubMed Link: 34234122

Variant Present in the following documents:

• 41467_2021_24348_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

Actionable Exomic Secondary Findings in 280 Lebanese Participants.

Frontiers In Genetics

Jalkh, Nadine N; Mehawej, Cybel C; Chouery, Eliane E

Publication Date: 2020

Variant appearance in text: RYR1: 4094delG; G1365fs

PubMed Link: 32231684

Variant Present in the following documents:

• Main text
• fgene-11-00208.pdf

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: RYR1: 4089delG

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM12_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

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A Rare Case of Severe Congenital RYR1-Associated Myopathy.

Case Reports In Genetics

Laforgia, Nicola N; Capozza, Manuela M; De Cosmo, Lucrezia L; Di Mauro, Antonio A; Baldassarre, Maria Elisabetta ME; Mercadante, Francesca F; Torella, Anna Laura AL; Nigro, Vincenzo V; Resta, Nicoletta N

Publication Date: 2018

Variant appearance in text: RYR1: 4094del

PubMed Link: 30155320

Variant Present in the following documents:

• Main text
• CRIG2018-6184185.pdf

View BVdb publication page