Publications:

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Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Frontiers In Neurology

Chen, Zirong Z; Yang, Huaitao H; Wang, Jiajia J; Long, Guoxian G; Xi, Qingsong Q; Chen, Tao T; He, Yue Y; Zhang, Bin B; Wan, Feng F

Publication Date: 2023

Variant appearance in text: SLC25A5: 548G>T; Gly183Val; rs200974395

PubMed Link: 37181548

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 1

View BVdb publication page

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Gallbladder adenocarcinomas undergo subclonal diversification and selection from precancerous lesions to metastatic tumors.

Elife

Kang, Minsu M; Na, Hee Young HY; Ahn, Soomin S; Kim, Ji-Won JW; Lee, Sejoon S; Ahn, Soyeon S; Lee, Ju Hyun JH; Youk, Jeonghwan J; Kim, Haesook T HT; Kim, Kui-Jin KJ; Suh, Koung Jin KJ; Lee, Jun Suh JS; Kim, Se Hyun SH; Kim, Jin Won JW; Kim, Yu Jung YJ; Lee, Keun-Wook KW; Yoon, Yoo-Seok YS; Kim, Jee Hyun JH; Chung, Jin-Haeng JH; Han, Ho-Seong HS; Lee, Jong Seok JS

Publication Date: 2022-12-08

Variant appearance in text: SLC25A5: G183V

PubMed Link: 36476508

Variant Present in the following documents:

• elife-78636-supp2.xlsx, sheet 3

View BVdb publication page

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Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics

Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X

Publication Date: 2022

Variant appearance in text: SLC25A5: 548G>T; G183V; rs200974395

PubMed Link: 36386804

Variant Present in the following documents:

• Table1.xls, sheet 3
• Table1.xls, sheet 1
• Table1.xls, sheet 2

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: SLC25A5: G183V; rs200974395

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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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs200974395

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: SLC25A5: 548G>T; Gly183Val

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 22

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: SLC25A5: G183V; rs200974395

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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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: SLC25A5: G183V; rs200974395

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: SLC25A5: 548G>T; G183V; rs200974395

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SLC25A5: G183V

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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