Publications:

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Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia.

Nature Communications

Bassal, Mahmoud A MA; Samaraweera, Saumya E SE; Lim, Kelly K; Benard, Brooks A BA; Bailey, Sheree S; Kaur, Satinder S; Leo, Paul P; Toubia, John J; Thompson-Peach, Chloe C; Nguyen, Tran T; Maung, Kyaw Ze Ya KZY; Casolari, Debora A DA; Iarossi, Diana G DG; Pagani, Ilaria S IS; Powell, Jason J; Pitson, Stuart S; Natera, Siria S; Roessner, Ute U; Lewis, Ian D ID; Brown, Anna L AL; Tenen, Daniel G DG; Robinson, Nirmal N; Ross, David M DM; Majeti, Ravindra R; Gonda, Thomas J TJ; Thomas, Daniel D; D'Andrea, Richard J RJ

Publication Date: 2022-05-12

Variant appearance in text: SDHB: R242C

PubMed Link: 35551192

Variant Present in the following documents:

• 41467_2022_30223_MOESM4_ESM.xlsx, sheet 1

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: 724C>T; Arg242Cys

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: 724C>T; Arg242Cys

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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: 724C>T; Arg242Cys; rs786203251

PubMed Link: 34452955

Variant Present in the following documents:

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

View BVdb publication page

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Head and Neck Paragangliomas: Patterns of Otolaryngology Referrals for Genetic Testing Over 2 Decades.

Oto Open

Smith, Joshua D JD; Bellile, Emily L EL; Else, Tobias T; Basura, Gregory G

Publication Date: 2021

Variant appearance in text: SDHB: 724C>T; Arg242Cys

PubMed Link: 33748650

Variant Present in the following documents:

• Main text
• 10.1177_2473974X21995453.pdf

View BVdb publication page

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature

Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A

Publication Date: 2020-10

Variant appearance in text: SDHB: 724C>T; Arg242Cys

PubMed Link: 33087929

Variant Present in the following documents:

• 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1

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: 724C>T; R242C

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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Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Cancers

Gieldon, Laura L; William, Doreen D; Hackmann, Karl K; Jahn, Winnie W; Jahn, Arne A; Wagner, Johannes J; Rump, Andreas A; Bechmann, Nicole N; Nölting, Svenja S; Knösel, Thomas T; Gudziol, Volker V; Constantinescu, Georgiana G; Masjkur, Jimmy J; Beuschlein, Felix F; Timmers, Henri Jlm HJ; Canu, Letizia L; Pacak, Karel K; Robledo, Mercedes M; Aust, Daniela D; Schröck, Evelin E; Eisenhofer, Graeme G; Richter, Susan S; Klink, Barbara B

Publication Date: 2019-06-11

Variant appearance in text: SDHB: 724C>T; Arg242Cys

PubMed Link: 31212687

Variant Present in the following documents:

• Main text
• cancers-11-00809.pdf

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: R242C

PubMed Link: 31194233

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-frequency actionable pathogenic exome variants in an average-risk cohort.

Cold Spring Harbor Molecular Case Studies

Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP

Publication Date: 2018-12

Variant appearance in text: SDHB: 724C>T; R242C

PubMed Link: 30487145

Variant Present in the following documents:

• Main text
• MCS003178Reg.pdf

View BVdb publication page

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Secondary findings in 421 whole exome-sequenced Chinese children.

Human Genomics

Chen, Wen W; Li, Wenke W; Ma, Yi Y; Zhang, Yujing Y; Han, Bianmei B; Liu, Xuewen X; Zhao, Kun K; Zhang, Meixian M; Mi, Jie J; Fu, Yuanyuan Y; Zhou, Zhou Z

Publication Date: 2018-09-14

Variant appearance in text: SDHB: 724C>T; Arg242Cys

PubMed Link: 30217213

Variant Present in the following documents:

• Main text
• 40246_2018_Article_174.pdf

View BVdb publication page

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Exome analysis of carotid body tumor.

Bmc Medical Genomics

Snezhkina, Anastasiya V AV; Lukyanova, Elena N EN; Kalinin, Dmitry V DV; Pokrovsky, Anatoly V AV; Dmitriev, Alexey A AA; Koroban, Nadezhda V NV; Pudova, Elena A EA; Fedorova, Maria S MS; Volchenko, Nadezhda N NN; Stepanov, Oleg A OA; Zhevelyuk, Ekaterina A EA; Kharitonov, Sergey L SL; Lipatova, Anastasiya V AV; Abramov, Ivan S IS; Golovyuk, Alexander V AV; Yegorov, Yegor E YE; Vishnyakova, Khava S KS; Moskalev, Alexey A AA; Krasnov, George S GS; Melnikova, Nataliya V NV; Shcherbo, Dmitry S DS; Kiseleva, Marina V MV; Kaprin, Andrey D AD; Alekseev, Boris Y BY; Zaretsky, Andrew R AR; Kudryavtseva, Anna V AV

Publication Date: 2018-02-13

Variant appearance in text: SDHB: 724C>T; Arg242Cys; rs786203251

PubMed Link: 29504908

Variant Present in the following documents:

• Main text
• 12920_2018_327_MOESM3_ESM.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: 724C>T; Arg242Cys

PubMed Link: 29386252

Variant Present in the following documents:

• Main text
• jmedgenet-2017-105127.pdf

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: SDHB: 724C>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

View BVdb publication page

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SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.

Journal Of The National Cancer Institute

Saxena, Neetu N; Maio, Nunziata N; Crooks, Daniel R DR; Ricketts, Christopher J CJ; Yang, Youfeng Y; Wei, Ming-Hui MH; Fan, Teresa W-M TW; Lane, Andrew N AN; Sourbier, Carole C; Singh, Anamika A; Killian, J Keith JK; Meltzer, Paul S PS; Vocke, Cathy D CD; Rouault, Tracey A TA; Linehan, W Marston WM

Publication Date: 2016-01

Variant appearance in text: SDHB: 724C>T; R242C

PubMed Link: 26719882

Variant Present in the following documents:

• Main text

View BVdb publication page

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