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: MUC16: V13007G; rs200995334

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Targeted Sequencing of Plasma-Derived vs. Urinary cfDNA from Patients with Triple-Negative Breast Cancer.

Cancers

Herzog, Henrike H; Dogan, Senol S; Aktas, Bahriye B; Nel, Ivonne I

Publication Date: 2022-08-24

Variant appearance in text: MUC16: V13007G

PubMed Link: 36077638

Variant Present in the following documents:

• Main text
• cancers-14-04101.pdf

View BVdb publication page

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Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A

Publication Date: 2022-11

Variant appearance in text: MUC16: 39020T>G; Val13007Gly

PubMed Link: 35697931

Variant Present in the following documents:

• 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease

Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2022-04-22

Variant appearance in text: MUC16: V13007G

PubMed Link: 35459861

Variant Present in the following documents:

• 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications

Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N

Publication Date: 2022-03-04

Variant appearance in text: MUC16: V13007G; rs200995334

PubMed Link: 35246273

Variant Present in the following documents:

• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics

Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X

Publication Date: 2021-05-17

Variant appearance in text: MUC16: V13007G; rs200995334

PubMed Link: 34001105

Variant Present in the following documents:

• 12920_2021_979_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: MUC16: Val13007Gly; rs200995334

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: rs200995334

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics

Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM

Publication Date: 2020-07-18

Variant appearance in text: MUC16: 39020T>G; Val13007Gly; rs200995334

PubMed Link: 32682410

Variant Present in the following documents:

• 12881_2020_1087_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: MUC16: V13007G; rs200995334

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Bmc Medical Genetics

Sha, Yanwei Y; Ma, Ding D; Zhang, Ning N; Wei, Xiaoli X; Liu, Wensheng W; Wang, Xiong X

Publication Date: 2019-08-01

Variant appearance in text: MUC16: V13007G; rs200995334

PubMed Link: 31370824

Variant Present in the following documents:

• 12881_2019_864_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted deep sequencing revealed variants in cell-free DNA of hormone receptor-positive metastatic breast cancer patients.

Cellular And Molecular Life Sciences : Cmls

Keup, Corinna C; Benyaa, Karim K; Hauch, Siegfried S; Sprenger-Haussels, Markus M; Tewes, Mitra M; Mach, Pawel P; Bittner, Ann-Kathrin AK; Kimmig, Rainer R; Hahn, Peter P; Kasimir-Bauer, Sabine S

Publication Date: 2020-02

Variant appearance in text: MUC16: 39020T>G; V13007G

PubMed Link: 31254045

Variant Present in the following documents:

• Main text
• 18_2019_Article_3189.pdf
• 18_2019_3189_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: MUC16: V13007G

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Frontiers In Pharmacology

Cornelius, Albert A; Foley, Jessica J; Bond, Jeffrey J; Nagulapally, Abhinav B AB; Steinbrecher, Julie J; Hendricks, William P D WPD; Rich, Maria M; Yendrembam, Sangeeta S; Bergendahl, Genevieve G; Trent, Jeffrey M JM; Sholler, Giselle S GS

Publication Date: 2017

Variant appearance in text: MUC16: V13007G; rs200995334

PubMed Link: 28993730

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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