Publications:

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SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.

Genes

Schipani, Angela A; Nannini, Margherita M; Astolfi, Annalisa A; Pantaleo, Maria A MA

Publication Date: 2023-03-04

Variant appearance in text: SDHA: 1753C>T; R585W

PubMed Link: 36980917

Variant Present in the following documents:

• Main text
• genes-14-00646.pdf

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Cognitive functioning and mental health in children with a primary mitochondrial disease.

Orphanet Journal Of Rare Diseases

van de Loo, Kim F E KFE; Custers, José A E JAE; de Boer, Lonneke L; van Lieshout, Marloes M; de Vries, Maaike C MC; Janssen, Mirian C H MCH; Verhaak, Christianne M CM

Publication Date: 2022-10-01

Variant appearance in text: SDHA: 1753C>T; Arg585Trp

PubMed Link: 36183138

Variant Present in the following documents:

• 13023_2022_Article_2510.pdf

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: SDHA: 1753C>T; Arg585Trp

PubMed Link: 35938916

Variant Present in the following documents:

• Main text
• ERC-22-0157.pdf

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Paclitaxel and cisplatin with or without cetuximab in metastatic esophageal squamous cell carcinoma: a randomized, multicenter phase II trial.

Innovation (Cambridge (Mass.))

Lu, Zhihao Z; Zhang, Yanqiao Y; Fan, Qingxia Q; Pan, Yueyin Y; Jiang, Da D; Lu, Ping P; Zhang, Jingdong J; Yuan, Xianglin X; Feng, Jifeng J; Yang, Shujun S; Yue, Wenbin W; Zhao, Lin L; Xu, Yunhua Y; Luo, Jinhua J; Shen, Lin L

Publication Date: 2022-05-10

Variant appearance in text: SDHA: 1753C>T; R585W

PubMed Link: 35509869

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.

Endocrine-Related Cancer

Richter, Susan S; Qiu, Bei B; Ghering, Mirthe M; Kunath, Carola C; Constantinescu, Georgiana G; Luths, Charlotte C; Pamporaki, Christina C; Bechmann, Nicole N; Meuter, Leah L; Kwapiszewska, Aleksandra A; Deutschbein, Timo T; Nölting, Svenja S; Peitzsch, Mirko M; Robledo, Mercedes M; Prejbisz, Aleksander A; Pacak, Karel K; Gudziol, Volker V; Timmers, Henri J L M HJLM; Eisenhofer, Graeme G

Publication Date: 2022-03-21

Variant appearance in text: SDHA: 1753C>T; Arg585Trp

PubMed Link: 35171114

Variant Present in the following documents:

• Main text
• ERC-21-0359.pdf

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Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Ebiomedicine

Tan, Jing J; Wagner, Matias M; Stenton, Sarah L SL; Strom, Tim M TM; Wortmann, Saskia B SB; Prokisch, Holger H; Meitinger, Thomas T; Oexle, Konrad K; Klopstock, Thomas T

Publication Date: 2020-04

Variant appearance in text: SDHA: 1753C>T; Arg585Trp

PubMed Link: 32305867

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: R585W

PubMed Link: 30680959

Variant Present in the following documents:

• MGG3-7-na.pdf
• MGG3-7-na-s007.xlsx, sheet 3

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: SDHA: 1753C>T; Arg585Trp; rs200397144

PubMed Link: 30050099

Variant Present in the following documents:

• Main text
• NIHMS1505462-supplement-Supplementary_information_3.xlsx, sheet 1
• nihms-1505462.pdf

View BVdb publication page

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Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).

Journal Of The Endocrine Society

Maniam, Pavithran P; Zhou, Kaixin K; Lonergan, Mike M; Berg, Jonathan N JN; Goudie, David R DR; Newey, Paul J PJ

Publication Date: 2018-07-01

Variant appearance in text: SDHA: Arg585Trp

PubMed Link: 29978154

Variant Present in the following documents:

• Main text
• js.2018-00120.pdf

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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: SDHA: 1753C>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: SDHA: 1753C>T; Arg585Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Molecular Genetics & Genomic Medicine

Casey, Ruth T RT; Ascher, David B DB; Rattenberry, Eleanor E; Izatt, Louise L; Andrews, Katrina A KA; Simpson, Helen L HL; Challis, Benjamen B; Park, Soo-Mi SM; Bulusu, Venkata R VR; Lalloo, Fiona F; Pires, Douglas E V DEV; West, Hannah H; Clark, Graeme R GR; Smith, Philip S PS; Whitworth, James J; Papathomas, Thomas G TG; Taniere, Phillipe P; Savisaar, Rosina R; Hurst, Laurence D LD; Woodward, Emma R ER; Maher, Eamonn R ER

Publication Date: 2017-05

Variant appearance in text: SDHA: 1753C>T; Arg585Trp

PubMed Link: 28546994

Variant Present in the following documents:

• Main text
• MGG3-5-237.pdf

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15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.

Endocrine-Related Cancer

Benn, Diana E DE; Robinson, Bruce G BG; Clifton-Bligh, Roderick J RJ

Publication Date: 2015-08

Variant appearance in text: SDHA: R585W

PubMed Link: 26273102

Variant Present in the following documents:

• ERC150268.pdf

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