Publications:

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Comprehensive Genetic Study of Malignant Cervical Paraganglioma.

International Journal Of Molecular Sciences

Snezhkina, Anastasiya A; Pavlov, Vladislav V; Fedorova, Maria M; Kalinin, Dmitry D; Pudova, Elena E; Kobelyatskaya, Anastasiya A; Bakhtogarimov, Ildar I; Krasnov, George G; Kudryavtseva, Anna A

Publication Date: 2023-05-04

Variant appearance in text: SDHB: Arg230His; rs587782604

PubMed Link: 37175927

Variant Present in the following documents:

• Main text
• ijms-24-08220.pdf

View BVdb publication page

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Paraganglioma in pregnancy, a mimic of preeclampsia: a case report.

Journal Of Medical Case Reports

Lundholm, Michelle D MD; Marquard, Jessica J; Rao, Pratibha Pr PP

Publication Date: 2023-04-07

Variant appearance in text: SDHB: Arg230His

PubMed Link: 37024931

Variant Present in the following documents:

• Main text
• 13256_2023_Article_3871.pdf

View BVdb publication page

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Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Frontiers In Molecular Neuroscience

Wang, Liang L; Yang, Ziyun Z; He, Xiumei X; Pu, Shiming S; Yang, Cheng C; Wu, Qiong Q; Zhou, Zuping Z; Cen, Xiaobo X; Zhao, Hongxia H

Publication Date: 2022

Variant appearance in text: SDHB: Arg230His

PubMed Link: 36157077

Variant Present in the following documents:

• Main text
• fnmol-15-974480.pdf

View BVdb publication page

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Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology

Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y

Publication Date: 2022

Variant appearance in text: SDHB: 689G>A; Arg230His; rs587782604

PubMed Link: 35966080

Variant Present in the following documents:

• Main text
• fendo-13-921645.pdf
• Table_1.xlsx, sheet 5

View BVdb publication page

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Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.

Endocrine-Related Cancer

Loughrey, Paul Benjamin PB; Roncaroli, Federico F; Healy, Estelle E; Weir, Philip P; Basetti, Madhu M; Casey, Ruth T RT; Hunter, Steven J SJ; Korbonits, Márta M

Publication Date: 2022-10-01

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 35938916

Variant Present in the following documents:

• Main text
• ERC-22-0157.pdf

View BVdb publication page

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Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.

Ebiomedicine

Zhang, Xiaoyan X; Yang, Ling L; Lei, Wanjun W; Hou, Qiang Q; Huang, Ming M; Zhou, Rongjing R; Enver, Tariq T; Wu, Shixiu S

Publication Date: 2022-08

Variant appearance in text: SDHB: R230H; rs587782604

PubMed Link: 35785618

Variant Present in the following documents:

• mmc1.xlsx, sheet 2

View BVdb publication page

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Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers.

Endocrine Connections

White, Gemma G; Velusamy, Anand A; Anandappa, Samantha S; Masucci, Michael M; Breen, Louise A LA; Joshi, Mamta M; McGowan, Barbara B; Hubbard, Johnathan G H JGH; Obholzer, Rupert R; Christodoulou, Dimitra D; Jacques, Audrey A; Touska, Philip P; Hassan, Fahim-Ul FU; Izatt, Louise L; Carroll, Paul V PV

Publication Date: 2022-02-16

Variant appearance in text: SDHB: 689G>A

PubMed Link: 35060925

Variant Present in the following documents:

• Main text
• EC-21-0602.pdf

View BVdb publication page

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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

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

Garrett, Alice A; Loveday, Chey C; King, Laura L; Butler, Samantha S; Robinson, Rachel R; Horton, Carrie C; Yussuf, Amal A; Choi, Subin S; Torr, Beth B; Durkie, Miranda M; Burghel, George J GJ; Drummond, James J; Berry, Ian I; Wallace, Andrew A; Callaway, Alison A; Eccles, Diana D; Tischkowitz, Marc M; Tatton-Brown, Katrina K; Snape, Katie K; McVeigh, Terri T; Izatt, Louise L; Woodward, Emma R ER; Burnichon, Nelly N; Gimenez-Roqueplo, Anne-Paule AP; Mazzarotto, Francesco F; Whiffin, Nicola N; Ware, James J; Hanson, Helen H; Pesaran, Tina T; LaDuca, Holly H; Buffet, Alexandre A; Maher, Eamonn R ER; Turnbull, Clare C; ,

Publication Date: 2021-11-19

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

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

Garrett, Alice A; Loveday, Chey C; King, Laura L; Butler, Samantha S; Robinson, Rachel R; Horton, Carrie C; Yussuf, Amal A; Choi, Subin S; Torr, Beth B; Durkie, Miranda M; Burghel, George J GJ; Drummond, James J; Berry, Ian I; Wallace, Andrew A; Callaway, Alison A; Eccles, Diana D; Tischkowitz, Marc M; Tatton-Brown, Katrina K; Snape, Katie K; McVeigh, Terri T; Izatt, Louise L; Woodward, Emma R ER; Burnichon, Nelly N; Gimenez-Roqueplo, Anne-Paule AP; Mazzarotto, Francesco F; Whiffin, Nicola N; Ware, James J; Hanson, Helen H; Pesaran, Tina T; LaDuca, Holly H; Buffet, Alexandre A; Maher, Eamonn R ER; Turnbull, Clare C; ,

Publication Date: 2022-01

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.

Clinical Case Reports

Milionis, Vassilis V; Goutas, Dimitrios D; Vlachodimitropoulos, Dimitrios D; Katsoulas, Nikolaos N; Kyriazis, Iason D ID; Liatsikos, Evangelos N EN; Marinakis, Nikolaos N; Joanne, Traeger-Synodinos TS; Lazaris, Andreas C AC; Goutas, Nikolaos N

Publication Date: 2021-10

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 34703596

Variant Present in the following documents:

• Main text
• CCR3-9-e04605.pdf

View BVdb publication page

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Familial SDHB gene mutation in disseminated non-hypoxia-related malignant paraganglioma treated with [90Y]Y/[177Lu]Lu- DOTATATE.

Intractable & Rare Diseases Research

Łoń, Izabela I; Kunikowska, Jolanta J; Jędrusik, Piotr P; Góra, Jarosław J; Toutounchi, Sadegh S; Placha, Grzegorz G; Gaciong, Zbigniew Z

Publication Date: 2021-08

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 34466344

Variant Present in the following documents:

• Main text

View BVdb publication page

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International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

Journal Of Medical Genetics

Ben Aim, Laurene L; Maher, Eamonn R ER; Cascon, Alberto A; Barlier, Anne A; Giraud, Sophie S; Ercolino, Tonino T; Pigny, Pascal P; Clifton-Bligh, Roderick J RJ; Mirebeau-Prunier, Delphine D; Mohamed, Amira A; Favier, Judith J; Gimenez-Roqueplo, Anne-Paule AP; Schiavi, Francesca F; Toledo, Rodrigo A RA; Dahia, Patricia L PL; Robledo, Mercedes M; Bayley, Jean Pierre JP; Burnichon, Nelly N

Publication Date: 2022-08

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 34452955

Variant Present in the following documents:

• jmedgenet-2020-107652supp002.xlsx, sheet 1

View BVdb publication page

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Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.

Cancers

Sarkadi, Balazs B; Liko, Istvan I; Nyiro, Gabor G; Igaz, Peter P; Butz, Henriett H; Patocs, Attila A

Publication Date: 2021-08-22

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 34439371

Variant Present in the following documents:

• Main text
• cancers-13-04219.pdf

View BVdb publication page

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Mutation Profile of Aggressive Pheochromocytoma and Paraganglioma with Comparison of TCGA Data.

Cancers

Choi, Yun Mi YM; Lim, Jinyeong J; Jeon, Min Ji MJ; Lee, Yu-Mi YM; Sung, Tae-Yon TY; Hong, Eun-Gyoung EG; Lee, Ji-Young JY; Jang, Se Jin SJ; Kim, Won Gu WG; Song, Dong Eun DE; Chun, Sung-Min SM

Publication Date: 2021-05-14

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 34069252

Variant Present in the following documents:

• Main text
• cancers-13-02389.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: SDHB: R230H

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Frontiers In Endocrinology

Ma, Xiaosen X; Li, Ming M; Tong, Anli A; Wang, Fen F; Cui, Yunying Y; Zhang, Xuebin X; Zhang, Yushi Y; Chen, Shi S; Li, Yuxiu Y

Publication Date: 2020

Variant appearance in text: SDHB: 689G>A; R230H

PubMed Link: 33362715

Variant Present in the following documents:

• Main text
• fendo-11-574662.pdf

View BVdb publication page

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Human Mitochondrial Pathologies of the Respiratory Chain and ATP Synthase: Contributions from Studies of Saccharomyces cerevisiae.

Life (Basel, Switzerland)

Franco, Leticia V R LVR; Bremner, Luca L; Barros, Mario H MH

Publication Date: 2020-11-23

Variant appearance in text: SDHB: R230H

PubMed Link: 33238568

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic basis of isolated mitochondrial complex II deficiency.

Molecular Genetics And Metabolism

Fullerton, Millie M; McFarland, Robert R; Taylor, Robert W RW; Alston, Charlotte L CL

Publication Date: 2020

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 33162331

Variant Present in the following documents:

• Main text

View BVdb publication page

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The SDHB Arg230His mutation causing familial paraganglioma alters glycolysis in a new Caenorhabditis elegans model.

Disease Models & Mechanisms

Saskői, Éva É; Hujber, Zoltán Z; Nyírő, Gábor G; Likó, István I; Mátyási, Barbara B; Petővári, Gábor G; Mészáros, Katalin K; Kovács, Attila L AL; Patthy, László L; Supekar, Shreyas S; Fan, Hao H; Sváb, Gergely G; Tretter, László L; Sarkar, Arunabh A; Nazir, Aamir A; Sebestyén, Anna A; Patócs, Attila A; Mehta, Anil A; Takács-Vellai, Krisztina K

Publication Date: 2020-10-15

Variant appearance in text: SDHB: R230H

PubMed Link: 32859697

Variant Present in the following documents:

• Main text
• dmm-13-044925-s1.pdf

View BVdb publication page

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Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.

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

Greenberg, Samantha E SE; Jacobs, Michelle F MF; Wachtel, Heather H; Anson, Amanda A; Buchmann, Luke L; Cohen, Debbie L DL; Bonanni, Maria M; Bennett, Bonita B; Naumer, Anne A; Schaefer, Amanda M AM; Kohlmann, Wendy W; Nathanson, Katherine L KL; Else, Tobias T; Fishbein, Lauren L

Publication Date: 2020-12

Variant appearance in text: SDHB: Arg230His

PubMed Link: 32741965

Variant Present in the following documents:

• NIHMS1619684-supplement-Supplemental_Tables_S1-S3.xlsx, sheet 2

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: SDHB: R230H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.

Journal Of Medical Genetics

Bao, Minghui M; Li, Ping P; Li, Qifu Q; Chen, Hui H; Zhong, Ying Y; Li, Shuangyue S; Jin, Ling L; Wang, Wenjie W; Chen, Zhenzhen Z; Zhong, Jiuchang J; Geng, Bin B; Fan, Yuxin Y; Yang, Xinchun X; Cai, Jun J

Publication Date: 2020-08

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 32561571

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report.

Bmc Medical Genetics

Chen, Heye H; Yao, Wei W; He, Qing Q; Yu, Xuefang X; Bian, Bo B

Publication Date: 2020-05-27

Variant appearance in text: SDHB: 689G>A; R230H

PubMed Link: 32460727

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1049.pdf

View BVdb publication page

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Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.

Journal Of Cancer Research And Clinical Oncology

Jochmanova, Ivana I; Abcede, April Melody T AMT; Guerrero, Ruby Jane S RJS; Malong, Chandy Lou P CLP; Wesley, Robert R; Huynh, Thanh T; Gonzales, Melissa K MK; Wolf, Katherine I KI; Jha, Abhishek A; Knue, Marianne M; Prodanov, Tamara T; Nilubol, Naris N; Mercado-Asis, Leilani B LB; Stratakis, Constantine A CA; Pacak, Karel K

Publication Date: 2020-04

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 32062700

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: SDHB: 689G>A; R230H

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Neck paraganglioma and follicular lymphoma: a case report.

Journal Of Medical Case Reports

Marchetti, Lara L; Perrucci, Luca L; D'Ercole, Francesca F; Zatelli, Maria Chiara MC; Ambrosio, Maria Rosaria MR; Giganti, Melchiore M; Carnevale, Aldo A

Publication Date: 2019-12-20

Variant appearance in text: SDHB: Arg230His

PubMed Link: 31856921

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.

Oncotarget

Albattal, Shatha S; Alswailem, Meshael M; Moria, Yosra Y; Al-Hindi, Hindi H; Dasouki, Majed M; Abouelhoda, Mohamed M; Alkhail, Hala Aba HA; Alsuhaibani, Entissar E; Alzahrani, Ali S AS

Publication Date: 2019-10-15

Variant appearance in text: SDHB: 689G>A; R230H

PubMed Link: 31666924

Variant Present in the following documents:

• Main text
• oncotarget-10-5919.pdf

View BVdb publication page

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The Impact Of Succinate Dehydrogenase Gene (SDH) Mutations In Renal Cell Carcinoma (RCC): A Systematic Review.

Oncotargets And Therapy

Aghamir, Seyed Mohammad Kazem SMK; Heshmat, Ramin R; Ebrahimi, Mehdi M; Ketabchi, Seyed Ebrahim SE; Parichehreh Dizaji, Somayeh S; Khatami, Fatemeh F

Publication Date: 2019

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 31579262

Variant Present in the following documents:

• Main text
• ott-12-7929.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: SDHB: 689G>A; R230H

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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Characterization of Malignant Head and Neck Paragangliomas at a Single Institution Across Multiple Decades.

Jama Otolaryngology-- Head & Neck Surgery

McCrary, Hilary C HC; Babajanian, Eric E; Calquin, Matias M; Carpenter, Patrick P; Casazza, Geoffrey G; Naumer, Anne A; Greenberg, Samantha S; Kohlmann, Wendy W; Cannon, Richard R; Monroe, Marcus M MM; Hunt, Jason P JP; Buchmann, Luke L

Publication Date: 2019-07-01

Variant appearance in text: SDHB: R230H

PubMed Link: 31194233

Variant Present in the following documents:

• Main text

View BVdb publication page

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Paraganglioma of the tongue with SDHB gene mutation in a patient with Graves' disease.

Clinical Case Reports

Duran Alvarez, Marcela Adriana MA; Tavarez Rodriguez, Juan Jose JJ; Robledo, Mercedes M

Publication Date: 2019-04

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 30997073

Variant Present in the following documents:

• Main text
• CCR3-7-726.pdf

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Hormone And Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme

Xekouki, Paraskevi P; Brennand, Ana A; Whitelaw, Ben B; Pacak, Karel K; Stratakis, Constantine A CA

Publication Date: 2019-07

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 30273935

Variant Present in the following documents:

• Main text

View BVdb publication page

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Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

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

Richter, Susan S; Gieldon, Laura L; Pang, Ying Y; Peitzsch, Mirko M; Huynh, Thanh T; Leton, Rocio R; Viana, Bruna B; Ercolino, Tonino T; Mangelis, Anastasios A; Rapizzi, Elena E; Menschikowski, Mario M; Aust, Daniela D; Kroiss, Matthias M; Beuschlein, Felix F; Gudziol, Volker V; Timmers, Henri Jlm HJ; Lenders, Jacques J; Mannelli, Massimo M; Cascon, Alberto A; Pacak, Karel K; Robledo, Mercedes M; Eisenhofer, Graeme G; Klink, Barbara B

Publication Date: 2019-03

Variant appearance in text: SDHB: 689G>A; Arg230His; rs587782604

PubMed Link: 30050099

Variant Present in the following documents:

• Main text
• NIHMS1505462-supplement-Supplementary_information_3.xlsx, sheet 1

View BVdb publication page

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Treatment responses to antiangiogenetic therapy and chemotherapy in nonsecreting paraganglioma (PGL4) of urinary bladder with SDHB mutation: A case report.

Medicine

Stigliano, Antonio A; Lardo, Pina P; Cerquetti, Lidia L; Aschelter, Anna Maria AM; Matarazzo, Iolanda I; Capriotti, Gabriela G; Schiavi, Francesca F; Marchetti, Paolo P; Nardone, Maria Rosaria MR; Petrangeli, Elisa E; Toscano, Vincenzo V

Publication Date: 2018-07

Variant appearance in text: SDHB: Arg230His

PubMed Link: 30045248

Variant Present in the following documents:

• Main text
• medi-97-e10904.pdf

View BVdb publication page

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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

American Journal Of Human Genetics

Whitworth, James J; Smith, Philip S PS; Martin, Jose-Ezequiel JE; West, Hannah H; Luchetti, Andrea A; Rodger, Faye F; Clark, Graeme G; Carss, Keren K; Stephens, Jonathan J; Stirrups, Kathleen K; Penkett, Chris C; Mapeta, Rutendo R; Ashford, Sofie S; Megy, Karyn K; Shakeel, Hassan H; Ahmed, Munaza M; Adlard, Julian J; Barwell, Julian J; Brewer, Carole C; Casey, Ruth T RT; Armstrong, Ruth R; Cole, Trevor T; Evans, Dafydd Gareth DG; Fostira, Florentia F; Greenhalgh, Lynn L; Hanson, Helen H; Henderson, Alex A; Hoffman, Jonathan J; Izatt, Louise L; Kumar, Ajith A; Kwong, Ava A; Lalloo, Fiona F; Ong, Kai Ren KR; Paterson, Joan J; Park, Soo-Mi SM; Chen-Shtoyerman, Rakefet R; Searle, Claire C; Side, Lucy L; Skytte, Anne-Bine AB; Snape, Katie K; Woodward, Emma R ER; , ; Tischkowitz, Marc D MD; Maher, Eamonn R ER

Publication Date: 2018-07-05

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 29909963

Variant Present in the following documents:

• Main text
• main.pdf
• mmc7.pdf
• mmc6.xlsx, sheet 1

View BVdb publication page

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Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Journal Of Medical Genetics

Andrews, Katrina A KA; Ascher, David B DB; Pires, Douglas Eduardo Valente DEV; Barnes, Daniel R DR; Vialard, Lindsey L; Casey, Ruth T RT; Bradshaw, Nicola N; Adlard, Julian J; Aylwin, Simon S; Brennan, Paul P; Brewer, Carole C; Cole, Trevor T; Cook, Jackie A JA; Davidson, Rosemarie R; Donaldson, Alan A; Fryer, Alan A; Greenhalgh, Lynn L; Hodgson, Shirley V SV; Irving, Richard R; Lalloo, Fiona F; McConachie, Michelle M; McConnell, Vivienne P M VPM; Morrison, Patrick J PJ; Murday, Victoria V; Park, Soo-Mi SM; Simpson, Helen L HL; Snape, Katie K; Stewart, Susan S; Tomkins, Susan E SE; Wallis, Yvonne Y; Izatt, Louise L; Goudie, David D; Lindsay, Robert S RS; Perry, Colin G CG; Woodward, Emma R ER; Antoniou, Antonis C AC; Maher, Eamonn R ER

Publication Date: 2018-06

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 29386252

Variant Present in the following documents:

• Main text
• jmedgenet-2017-105127.pdf

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Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

The Journal Of Clinical Endocrinology And Metabolism

Casey, Ruth T RT; Warren, Anne Y AY; Martin, Jose Ezequiel JE; Challis, Benjamin G BG; Rattenberry, Eleanor E; Whitworth, James J; Andrews, Katrina A KA; Roberts, Thomas T; Clark, Graeme R GR; West, Hannah H; Smith, Philip S PS; Docquier, France M FM; Rodger, Fay F; Murray, Vicki V; Simpson, Helen L HL; Wallis, Yvonne Y; Giger, Olivier O; Tran, Maxine M; Tomkins, Susan S; Stewart, Grant D GD; Park, Soo-Mi SM; Woodward, Emma R ER; Maher, Eamonn R ER

Publication Date: 2017-11-01

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 28973655

Variant Present in the following documents:

• Main text

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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: SDHB: 689G>A

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

Journal Of Cancer Research And Clinical Oncology

Jochmanova, Ivana I; Wolf, Katherine I KI; King, Kathryn S KS; Nambuba, Joan J; Wesley, Robert R; Martucci, Victoria V; Raygada, Margarita M; Adams, Karen T KT; Prodanov, Tamara T; Fojo, Antonio Tito AT; Lazurova, Ivica I; Pacak, Karel K

Publication Date: 2017-08

Variant appearance in text: SDHB: 689G>A; Arg230His

PubMed Link: 28374168

Variant Present in the following documents:

• Main text

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