Publications:

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Var∣Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing data.

Epigenetics & Chromatin

Salma, Mohammad M; Alaterre, Elina E; Moreaux, Jérôme J; Soler, Eric E

Publication Date: 2023-06-14

Variant appearance in text: SDHA: A449V

PubMed Link: 37312221

Variant Present in the following documents:

• Main text
• 13072_2023_Article_497.pdf

View BVdb publication page

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Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing.

Open Life Sciences

Xing, Junyue J; Wang, Hongdan H; Xie, Yuanyuan Y; Fan, Taibing T; Cui, Cunying C; Li, Yanan Y; Wang, Shuai S; Gu, Weiyue W; Wang, Chengzeng C; Tang, Hao H; Liu, Lin L

Publication Date: 2023

Variant appearance in text: SDHA: A449V

PubMed Link: 37215497

Variant Present in the following documents:

• biol-2022-0593-sm.pdf
• biol-2022-0593.pdf

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: SDHA: 1346C>T; Ala449Val; rs201139275

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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Dynamics of age- versus therapy-related clonal hematopoiesis in long-term survivors of pediatric cancer.

Cancer Discovery

Hagiwara, Kohei K; Natarajan, Sivaraman S; Wang, Zhaoming Z; Zubair, Haseeb H; Mulder, Heather L HL; Dong, Li L; Plyler, Emily M EM; Thimmaiah, Padma P; Ma, Xiaotu X; Ness, Kirsten K KK; Li, Zhenghong Z; Mulrooney, Daniel A DA; Wilson, Carmen L CL; Yasui, Yutaka Y; Hudson, Melissa M MM; Easton, John J; Robison, Leslie L LL; Zhang, Jinghui J

Publication Date: 2023-02-08

Variant appearance in text: SDHA: A449V

PubMed Link: 36751942

Variant Present in the following documents:

• cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 1

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: rs201139275

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: SDHA: A449V

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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New methodology of TMB assessment from tissue and liquid biopsy in NSCLC.

Plos One

Křížová, Ľudmila Ľ; Šafaříková, Markéta M; Kalousová, Marta M; Pfeiferová, Lucie L; Kuběna, Aleš Antonín AA; Vočka, Michal M; Ulrych, Jan J; Franková, Věra V; Petruželka, Luboš L; Zima, Tomáš T; Feltl, David D

Publication Date: 2022

Variant appearance in text: SDHA: 1346C>T; Ala449Val; rs201139275

PubMed Link: 36155654

Variant Present in the following documents:

• pone.0275121.s002.xlsx, sheet 7

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: SDHA: A449V

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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: SDHA: 1346C>T; Ala449Val

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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Deleterious mutations in esophageal carcinoma cuniculatum detected by next generation sequencing.

International Journal Of Clinical And Experimental Pathology

Yin, Feng F; Wang, Kai K; Hu, Ming M; Starostik, Petr P; Newsom, Kimberly J KJ; Liu, Xiuli X

Publication Date: 2022

Variant appearance in text: SDHA: 1346C>T; Ala449Val

PubMed Link: 35145582

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-12

Variant appearance in text: SDHA: A449V

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-11-25

Variant appearance in text: SDHA: A449V

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2021-07-13

Variant appearance in text: SDHA: 1346C>T; A449V

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2022-02

Variant appearance in text: SDHA: 1346C>T; A449V

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.

International Journal Of Molecular Sciences

Brodehl, Andreas A; Meshkov, Alexey A; Myasnikov, Roman R; Kiseleva, Anna A; Kulikova, Olga O; Klauke, Bärbel B; Sotnikova, Evgeniia E; Stanasiuk, Caroline C; Divashuk, Mikhail M; Pohl, Greta Marie GM; Kudryavtseva, Maria M; Klingel, Karin K; Gerull, Brenda B; Zharikova, Anastasia A; Gummert, Jan J; Koretskiy, Sergey S; Schubert, Stephan S; Mershina, Elena E; Gärtner, Anna A; Pilus, Polina P; Laser, Kai Thorsten KT; Sinitsyn, Valentin V; Boytsov, Sergey S; Drapkina, Oxana O; Milting, Hendrik H

Publication Date: 2021-04-06

Variant appearance in text: SDHA: A449V

PubMed Link: 33917638

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Oncotarget

Joshi, Asim A; Mishra, Rohit R; Desai, Sanket S; Chandrani, Pratik P; Kore, Hitesh H; Sunder, Roma R; Hait, Supriya S; Iyer, Prajish P; Trivedi, Vaishakhi V; Choughule, Anuradha A; Noronha, Vanita V; Joshi, Amit A; Patil, Vijay V; Menon, Nandini N; Kumar, Rajiv R; Prabhash, Kumar K; Dutt, Amit A

Publication Date: 2021-03-16

Variant appearance in text: SDHA: A449V; rs201139275

PubMed Link: 33796225

Variant Present in the following documents:

• oncotarget-12-578-s005.xlsx, sheet 1

View BVdb publication page

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: SDHA: 1346C>T; A449V; rs201139275

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

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Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Breast Cancer Research : Bcr

Priedigkeit, Nolan N; Ding, Kai K; Horne, William W; Kolls, Jay K JK; Du, Tian T; Lucas, Peter C PC; Blohmer, Jens-Uwe JU; Denkert, Carsten C; Machleidt, Anna A; Ingold-Heppner, Barbara B; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2021-01-06

Variant appearance in text: SDHA: A449V; rs201139275

PubMed Link: 33407744

Variant Present in the following documents:

• 13058_2020_1379_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Bmc Medical Genetics

Kumar, Kishore K; Bellad, Anikha A; Prasad, Pramada P; Girimaji, Satish Chandra SC; Muthusamy, Babylakshmi B

Publication Date: 2020-06-26

Variant appearance in text: SDHA: A449V

PubMed Link: 32590954

Variant Present in the following documents:

• 12881_2020_1074_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: SDHA: 1346C>T; Ala449Val

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.

Scientific Reports

Chirita-Emandi, Adela A; Andreescu, Nicoleta N; Zimbru, Cristian G CG; Tutac, Paul P; Arghirescu, Smaranda S; Serban, Margit M; Puiu, Maria M

Publication Date: 2020-01-14

Variant appearance in text: SDHA: 1346C>T; Ala449Val; rs201139275

PubMed Link: 31937788

Variant Present in the following documents:

• 41598_2019_57080_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: SDHA: 1346C>T; A449V

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 6
• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4

View BVdb publication page

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Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.

Molecular Genetics & Genomic Medicine

Nicolas, Emmanuelle E; Demidova, Elena V EV; Iqbal, Waleed W; Serebriiskii, Ilya G IG; Vlasenkova, Ramilia R; Ghatalia, Pooja P; Zhou, Yan Y; Rainey, Kim K; Forman, Andrea F AF; Dunbrack, Roland L RL; Golemis, Erica A EA; Hall, Michael J MJ; Daly, Mary B MB; Arora, Sanjeevani S

Publication Date: 2019-03

Variant appearance in text: SDHA: A449V; rs201139275

PubMed Link: 30680959

Variant Present in the following documents:

• MGG3-7-na-s007.xlsx, sheet 2

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: SDHA: 1346C>T; Ala449Val

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 22
• pone.0210079.s007.xlsx, sheet 4
• pone.0210079.s007.xlsx, sheet 20

View BVdb publication page

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Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports

Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L

Publication Date: 2017-11-10

Variant appearance in text: SDHA: 1346C>T; A449V

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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