Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: 225: 224G>A

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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BEAT CF pulmonary exacerbations core protocol for evaluating the management of pulmonary exacerbations in people with cystic fibrosis.

Trials

Schultz, Andre A; McLeod, Charlie C; Berry, Scott S; Marsh, Julie J; McKenzie, Anne A; Messer, Mitch M; Wood, Jamie J; Saville, Ben B; Jaffe, Adam A; Ranganathan, Sarath S; Stick, Steve S; Wark, Peter P; Webb, Steve S; Snelling, Tom T

Publication Date: 2023-03-22

Variant appearance in text: 225: 224G>A

PubMed Link: 36949472

Variant Present in the following documents:

• 13063_2023_7076_MOESM2_ESM.pdf

View BVdb publication page

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Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences

Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW

Publication Date: 2023-03-08

Variant appearance in text: 225: 224G>A

PubMed Link: 36945587

Variant Present in the following documents:

• media-1.xlsx, sheet 14

View BVdb publication page

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Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: 225: Gly75Asp

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Promiscuity of response regulators for thioredoxin steers bacterial virulence.

Nature Communications

Kim, Ju-Sim JS; Born, Alexandra A; Till, James Karl A JKA; Liu, Lin L; Kant, Sashi S; Henen, Morkos A MA; Vögeli, Beat B; Vázquez-Torres, Andrés A

Publication Date: 2022-10-20

Variant appearance in text: 225: G75D

PubMed Link: 36266276

Variant Present in the following documents:

• 41467_2022_33983_MOESM4_ESM.xlsx, sheet 46

View BVdb publication page

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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: 225: 224G>A

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s004.xlsx, sheet 2

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: 225: 224G>A

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Correlation of changes in subclonal architecture with progression in the MMRF CoMMpass study.

Translational Oncology

Kaur, Gurvinder G; Jena, Lingaraja L; Gupta, Ritu R; Farswan, Akanksha A; Gupta, Anubha A; Sriram, K K

Publication Date: 2022-06-28

Variant appearance in text: 225: 224G>A

PubMed Link: 35777247

Variant Present in the following documents:

• mmc5.xls, sheet 3

View BVdb publication page

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Genome instability drives epistatic adaptation in the human pathogen Leishmania.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bussotti, Giovanni G; Piel, Laura L; Pescher, Pascale P; Domagalska, Malgorzata A MA; Rajan, K Shanmugha KS; Cohen-Chalamish, Smadar S; Doniger, Tirza T; Hiregange, Disha-Gajanan DG; Myler, Peter J PJ; Unger, Ron R; Michaeli, Shulamit S; Späth, Gerald F GF

Publication Date: 2021-12-21

Variant appearance in text: 225: G75D

PubMed Link: 34903666

Variant Present in the following documents:

• pnas.2113744118.sd16.xlsx, sheet 1
• pnas.2113744118.sd16.xlsx, sheet 7
• pnas.2113744118.sd16.xlsx, sheet 3
• pnas.2113744118.sd16.xlsx, sheet 5
• pnas.2113744118.sd16.xlsx, sheet 2

View BVdb publication page

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SAMHD1 in cancer: curse or cure?

Journal Of Molecular Medicine (Berlin, Germany)

Schott, Kerstin K; Majer, Catharina C; Bulashevska, Alla A; Childs, Liam L; Schmidt, Mirko H H MHH; Rajalingam, Krishnaraj K; Munder, Markus M; König, Renate R

Publication Date: 2022-03

Variant appearance in text: 225: G75D

PubMed Link: 34480199

Variant Present in the following documents:

• 109_2021_2131_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Clonal evolution in chronic lymphocytic leukemia is scant in relapsed but accelerated in refractory cases after chemo(immune) therapy.

Haematologica

Zapatka, Marc M; Tausch, Eugen E; Öztürk, Selcen S; Yosifov, Deyan Yordanov DY; Seiffert, Martina M; Zenz, Thorsten T; Schneider, Christof C; Blöhdorn, Johannes J; Döhner, Hartmut H; Mertens, Daniel D; Lichter, Peter P; Stilgenbauer, Stephan S

Publication Date: 2022-03-01

Variant appearance in text: 225: G75D

PubMed Link: 33691380

Variant Present in the following documents:

• 2020_265777_ZAPATKA_TABS4.xlsx, sheet 1

View BVdb publication page

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The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology

Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A

Publication Date: 2021-02-05

Variant appearance in text: 225: 224G>A

PubMed Link: 33546694

Variant Present in the following documents:

• 12915_2021_962_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Multiplexed Functional Assessment of Genetic Variants in CARD11.

American Journal Of Human Genetics

Meitlis, Iana I; Allenspach, Eric J EJ; Bauman, Bradly M BM; Phan, Isabelle Q IQ; Dabbah, Gina G; Schmitt, Erica G EG; Camp, Nathan D ND; Torgerson, Troy R TR; Nickerson, Deborah A DA; Bamshad, Michael J MJ; Hagin, David D; Luthers, Christopher R CR; Stinson, Jeffrey R JR; Gray, Jessica J; Lundgren, Ingrid I; Church, Joseph A JA; Butte, Manish J MJ; Jordan, Mike B MB; Aceves, Seema S SS; Schwartz, Daniella M DM; Milner, Joshua D JD; Schuval, Susan S; Skoda-Smith, Suzanne S; Cooper, Megan A MA; Starita, Lea M LM; Rawlings, David J DJ; Snow, Andrew L AL; James, Richard G RG

Publication Date: 2020-12-03

Variant appearance in text: 225: 224G>A

PubMed Link: 33202260

Variant Present in the following documents:

• mmc2.xlsx, sheet 1
• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1

View BVdb publication page

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Comprehensive annotations of the mutational spectra of SARS-CoV-2 spike protein: a fast and accurate pipeline.

Transboundary And Emerging Diseases

Rahman, Mohammad Shaminur MS; Islam, Mohammad Rafiul MR; Hoque, Mohammad Nazmul MN; Alam, Abu Sayed Mohammad Rubayet Ul ASMRU; Akther, Masuda M; Puspo, Joynob Akter JA; Akter, Salma S; Anwar, Azraf A; Sultana, Munawar M; Hossain, Mohammad Anwar MA

Publication Date: 2021-05

Variant appearance in text: 225: G75D

PubMed Link: 32954666

Variant Present in the following documents:

• TBED-9999-na-s003.xlsx, sheet 1

View BVdb publication page

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Mapping the spreading routes of lymphatic metastases in human colorectal cancer.

Nature Communications

Zhang, Chong C; Zhang, Lin L; Xu, Tianlei T; Xue, Ruidong R; Yu, Liang L; Zhu, Yuelu Y; Wu, Yunlong Y; Zhang, Qingqing Q; Li, Dongdong D; Shen, Shuohao S; Tan, Dongfeng D; Bai, Fan F; Zhang, Haizeng H

Publication Date: 2020-04-24

Variant appearance in text: 225: 224G>A

PubMed Link: 32332722

Variant Present in the following documents:

• 41467_2020_15886_MOESM5_ESM.xlsx, sheet 8
• 41467_2020_15886_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: 225: 224G>A

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_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: 225: 224G>A

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 21

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: 225: Gly75Asp

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated genomic and metabolomic profiling of ISC1, an emerging Leishmania donovani population in the Indian subcontinent.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases

Cuypers, Bart B; Berg, Maya M; Imamura, Hideo H; Dumetz, Franck F; De Muylder, Géraldine G; Domagalska, Malgorzata A MA; Rijal, Suman S; Bhattarai, Narayan Raj NR; Maes, Ilse I; Sanders, Mandy M; Cotton, James A JA; Meysman, Pieter P; Laukens, Kris K; Dujardin, Jean-Claude JC

Publication Date: 2018-08

Variant appearance in text: 225: 224G>A

PubMed Link: 29679745

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: 225: 224G>A

PubMed Link: 28748451

Variant Present in the following documents:

• 13238_2017_Article_451.pdf

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: 225: G75D

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1

View BVdb publication page

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Pokeweed antiviral protein: its cytotoxicity mechanism and applications in plant disease resistance.

Toxins

Di, Rong R; Tumer, Nilgun E NE

Publication Date: 2015-03-06

Variant appearance in text: 225: G75D

PubMed Link: 25756953

Variant Present in the following documents:

• Main text

View BVdb publication page

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