Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1058304

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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The current state of genetic risk models for the development of kidney cancer: a review and validation.

Bju International

Harrison, Hannah H; Li, Nicole N; Saunders, Catherine L CL; Rossi, Sabrina H SH; Dennis, Joe J; Griffin, Simon J SJ; Stewart, Grant D GD; Usher-Smith, Juliet A JA

Publication Date: 2022-11

Variant appearance in text: rs1058304

PubMed Link: 35460182

Variant Present in the following documents:

• BJU-130-550-s004.pdf

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: rs1058304

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs1058304

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs1058304

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing.

European Journal Of Human Genetics : Ejhg

Musolf, Anthony M AM; Ho, Winson S C WSC; Long, Kyle A KA; Zhuang, Zhengping Z; Argersinger, Davis P DP; Sun, Haiming H; Moiz, Bilal A BA; Simpson, Claire L CL; Mendelevich, Elena G EG; Bogdanov, Enver I EI; Bailey-Wilson, Joan E JE; Heiss, John D JD

Publication Date: 2019-10

Variant appearance in text: rs1058304

PubMed Link: 31227808

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sirolimus and Everolimus Pathway: Reviewing Candidate Genes Influencing Their Intracellular Effects.

International Journal Of Molecular Sciences

Granata, Simona S; Dalla Gassa, Alessandra A; Carraro, Amedeo A; Brunelli, Matteo M; Stallone, Giovanni G; Lupo, Antonio A; Zaza, Gianluigi G

Publication Date: 2016-05-14

Variant appearance in text: rs1058304

PubMed Link: 27187382

Variant Present in the following documents:

• Main text
• ijms-17-00735.pdf

View BVdb publication page

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Energy balance, polymorphisms in the mTOR pathway, and renal cell carcinoma risk.

Journal Of The National Cancer Institute

Shu, Xiang X; Lin, Jie J; Wood, Christopher G CG; Tannir, Nizar M NM; Wu, Xifeng X

Publication Date: 2013-03-20

Variant appearance in text: rs1058304

PubMed Link: 23378641

Variant Present in the following documents:

• Main text

View BVdb publication page

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