Publications:

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Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.

The Journal Of Clinical Investigation

Li, Chengcheng C; Wilborn, Jackson J; Pittman, Sara S; Daw, Jil J; Alonso-Pérez, Jorge J; Díaz-Manera, Jordi J; Weihl, Conrad C CC; Haller, Gabe G

Publication Date: 2023-06-15

Variant appearance in text: 225: A224V

PubMed Link: 37317968

Variant Present in the following documents:

• jci-133-168156-s148.xlsx, sheet 2

View BVdb publication page

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: 225: A224V

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: 225: 671C>T

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Immunotherapy for bilateral multiple ground glass opacities: An exploratory study for synchronous multiple primary lung cancer.

Frontiers In Immunology

Xu, Lin L; Shi, Meiqi M; Wang, Siwei S; Li, Ming M; Yin, Wenda W; Zhang, Jingyuan J; Zhu, Jun J; Jiang, Feng F; Xia, Wenjia W; Qiu, Ninglei N; Zhang, Zhi Z; Huang, Jianfeng J; Ma, Zhifei Z; Meng, Fanchen F; Zhu, Hongyu H; Dong, Guozhang G; Wang, Jie J; Yin, Rong R

Publication Date: 2022

Variant appearance in text: 225: Ala224Val

PubMed Link: 36389707

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: 225: 671C>T

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: A224V

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6
• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: A224V

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6
• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Embeddings from protein language models predict conservation and variant effects.

Human Genetics

Marquet, Céline C; Heinzinger, Michael M; Olenyi, Tobias T; Dallago, Christian C; Erckert, Kyra K; Bernhofer, Michael M; Nechaev, Dmitrii D; Rost, Burkhard B

Publication Date: 2022-10

Variant appearance in text: 225: A224V

PubMed Link: 34967936

Variant Present in the following documents:

• 439_2021_2411_MOESM3_ESM.xlsx, sheet 19

View BVdb publication page

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HDAC2 Facilitates Pancreatic Cancer Metastasis.

Cancer Research

Krauß, Lukas L; Urban, Bettina C BC; Hastreiter, Sieglinde S; Schneider, Carolin C; Wenzel, Patrick P; Hassan, Zonera Z; Wirth, Matthias M; Lankes, Katharina K; Terrasi, Andrea A; Klement, Christine C; Cernilogar, Filippo M FM; Öllinger, Rupert R; de Andrade Krätzig, Niklas N; Engleitner, Thomas T; Schmid, Roland M RM; Steiger, Katja K; Rad, Roland R; Krämer, Oliver H OH; Reichert, Maximilian M; Schotta, Gunnar G; Saur, Dieter D; Schneider, Günter G

Publication Date: 2022-02-15

Variant appearance in text: 225: 671C>T

PubMed Link: 34903606

Variant Present in the following documents:

• can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 2

View BVdb publication page

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A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis.

Cell Death & Disease

Yang, Yeming Y; Li, Xiao X; Wang, Jieping J; Tan, Junkai J; Fitzmaurice, Bernie B; Nishina, Patsy M PM; Sun, Kuanxiang K; Tian, Wanli W; Liu, Wenjing W; Liu, Xuyang X; Chang, Bo B; Zhu, Xianjun X

Publication Date: 2021-10-29

Variant appearance in text: 225: A224V

PubMed Link: 34716303

Variant Present in the following documents:

• 41419_2021_4331_MOESM2_ESM.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: 225: 671C>T

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lyra, Paulo C M PCM; Nepomuceno, Thales C TC; de Souza, Marcele L M MLM; Machado, Géssica F GF; Veloso, Mariana F MF; Henriques, Taciane B TB; Dos Santos, Diandra Z DZ; Ribeiro, Iuly G IG; Ribeiro, Roberto S RS; Rangel, Leticia B A LBA; Richardson, Marcy M; Iversen, Edwin S ES; Goldgar, David D; Couch, Fergus J FJ; Carvalho, Marcelo A MA; Monteiro, Alvaro N A ANA

Publication Date: 2021-02

Variant appearance in text: 225: A224V

PubMed Link: 33087888

Variant Present in the following documents:

• 41436_2020_991_MOESM1_ESM.xlsx, sheet 10
• 41436_2020_991_MOESM1_ESM.xlsx, sheet 2
• 41436_2020_991_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Genome sequencing reveals coinfection by multiple chikungunya virus genotypes in a recent outbreak in Brazil.

Plos Neglected Tropical Diseases

Machado, Lais Ceschini LC; de Morais-Sobral, Mariana Carolina MC; Campos, Tulio de Lima TL; Pereira, Mylena Ribeiro MR; de Albuquerque, Maria de Fátima Pessoa Militão MFPM; Gilbert, Clément C; Franca, Rafael Freitas Oliveira RFO; Wallau, Gabriel Luz GL

Publication Date: 2019-05

Variant appearance in text: 225: 671C>T

PubMed Link: 31095561

Variant Present in the following documents:

• pntd.0007332.s002.xlsx, sheet 6

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: 671C>T

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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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports

Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A

Publication Date: 2018-11-21

Variant appearance in text: 225: 671C>T

PubMed Link: 30464253

Variant Present in the following documents:

• 41598_2018_35506_MOESM5_ESM.xlsx, sheet 5

View BVdb publication page

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Multi-dimensional genomic analysis of myoepithelial carcinoma identifies prevalent oncogenic gene fusions.

Nature Communications

Dalin, Martin G MG; Katabi, Nora N; Persson, Marta M; Lee, Ken-Wing KW; Makarov, Vladimir V; Desrichard, Alexis A; Walsh, Logan A LA; West, Lyndsay L; Nadeem, Zaineb Z; Ramaswami, Deepa D; Havel, Jonathan J JJ; Kuo, Fengshen F; Chadalavada, Kalyani K; Nanjangud, Gouri J GJ; Ganly, Ian I; Riaz, Nadeem N; Ho, Alan L AL; Antonescu, Cristina R CR; Ghossein, Ronald R; Stenman, Göran G; Chan, Timothy A TA; Morris, Luc G T LGT

Publication Date: 2017-10-30

Variant appearance in text: 225: 671C>T

PubMed Link: 29084941

Variant Present in the following documents:

• 41467_2017_1178_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Identification and analysis of mutational hotspots in oncogenes and tumour suppressors.

Oncotarget

Baeissa, Hanadi H; Benstead-Hume, Graeme G; Richardson, Christopher J CJ; Pearl, Frances M G FMG

Publication Date: 2017-03-28

Variant appearance in text: 225: A224V

PubMed Link: 28423505

Variant Present in the following documents:

• oncotarget-08-21290-s007.xlsx, sheet 1

View BVdb publication page

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Gene expression analysis and SNP/InDel discovery to investigate yield heterosis of two rubber tree F1 hybrids.

Scientific Reports

Li, Dejun D; Zeng, Rizhong R; Li, Yan Y; Zhao, Manman M; Chao, Jinquan J; Li, Yu Y; Wang, Kai K; Zhu, Lihuang L; Tian, Wei-Min WM; Liang, Chengzhi C

Publication Date: 2016-04-25

Variant appearance in text: 225: A224V

PubMed Link: 27108962

Variant Present in the following documents:

• srep24984-s4.xls, sheet 2

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: A224V

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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Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell

Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R

Publication Date: 2015-09-24

Variant appearance in text: 225: A224V

PubMed Link: 26388441

Variant Present in the following documents:

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

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: 225: A224V

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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Deep sequencing of systematic combinatorial libraries reveals β-lactamase sequence constraints at high resolution.

Journal Of Molecular Biology

Deng, Zhifeng Z; Huang, Wanzhi W; Bakkalbasi, Erol E; Brown, Nicholas G NG; Adamski, Carolyn J CJ; Rice, Kacie K; Muzny, Donna D; Gibbs, Richard A RA; Palzkill, Timothy T

Publication Date: 2012-12-07

Variant appearance in text: 225: A224V

PubMed Link: 23017428

Variant Present in the following documents:

• Main text

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