Publications:

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Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex.

Frontiers In Genetics

Giannikou, Krinio K; Martin, Katie R KR; Abdel-Azim, Ahmad G AG; Pamir, Kaila J KJ; Hougard, Thomas R TR; Bagwe, Shefali S; Tang, Yan Y; MacKeigan, Jeffrey P JP; Kwiatkowski, David J DJ; Henske, Elizabeth P EP; Lam, Hilaire C HC

Publication Date: 2022

Variant appearance in text: SDHB: Arg90Gln

PubMed Link: 36793390

Variant Present in the following documents:

• Main text
• fgene-13-917993.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: 269G>A; Arg90Gln

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: 269G>A; Arg90Gln

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: 269G>A; Arg90Gln; rs570278423

PubMed Link: 34452955

Variant Present in the following documents:

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

View BVdb publication page

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Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Human Genome Variation

Moradian, Mike M MM; Babikyan, Davit T DT; Markarian, Sione S; Petrosyan, Jonny G JG; Avanesian, Nare N; Arutunyan, Tereza T; Sarkisian, Tamara F TF

Publication Date: 2021-02-09

Variant appearance in text: SDHB: 269G>A; Arg90Gln

PubMed Link: 33558524

Variant Present in the following documents:

• Main text
• 41439_2021_140_MOESM3_ESM.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: R90Q

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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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: 269G>A

PubMed Link: 32460727

Variant Present in the following documents:

• 12881_2020_Article_1049.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: SDHB: 269G>A; R90Q

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM8_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 6
• 41467_2020_16067_MOESM9_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 5

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: 269G>A; R90Q

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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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SDHB: R90Q

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Breast cancer metastasis to gynaecological organs: a clinico-pathological and molecular profiling study.

The Journal Of Pathology. Clinical Research

Kutasovic, Jamie R JR; McCart Reed, Amy E AE; Males, Renique R; Sim, Sarah S; Saunus, Jodi M JM; Dalley, Andrew A; McEvoy, Christopher R CR; Dedina, Liana L; Miller, Gregory G; Peyton, Stephen S; Reid, Lynne L; Lal, Samir S; Niland, Colleen C; Ferguson, Kaltin K; Fellowes, Andrew P AP; Al-Ejeh, Fares F; Lakhani, Sunil R SR; Cummings, Margaret C MC; Simpson, Peter T PT

Publication Date: 2019-01

Variant appearance in text: SDHB: 269G>A; Arg90Gln

PubMed Link: 30246500

Variant Present in the following documents:

• CJP2-5-25-s002.xlsx, sheet 11

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: 269G>A

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

View BVdb publication page

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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: SDHB: R90Q

PubMed Link: 26273102

Variant Present in the following documents:

• ERC150268.pdf

View BVdb publication page

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KIT Mutation and Loss of 14q May Be Sufficient for the Development of Clinically Symptomatic Very Low-Risk GIST.

Plos One

Klinke, Olaf Karl OK; Mizani, Tuba T; Baldwin, Gouri G; Bancel, Brigitte B; Devouassoux-Shisheboran, Mojgan M; Scoazec, Jean-Yves JY; Bringuier, Pierre-Paul PP; Feederle, Regina R; Jauch, Anna A; Hinderhofer, Katrin K; Taniere, Philippe P; Delecluse, Henri-Jacques HJ

Publication Date: 2015

Variant appearance in text: SDHB: Arg90Gln; rs570278423

PubMed Link: 26102504

Variant Present in the following documents:

• Main text

View BVdb publication page

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Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.

Cellular Oncology : The Official Journal Of The International Society For Cellular Oncology

Hermsen, Mario A MA; Sevilla, María A MA; Llorente, José Luis JL; Weiss, Marjan M MM; Grimbergen, Anneliese A; Allonca, Eva E; Garcia-Inclán, Cristina C; Balbín, Milagros M; Suárez, Carlos C

Publication Date: 2010-01-01

Variant appearance in text: SDHB: 269G>A; Arg90Gln

PubMed Link: 20208144

Variant Present in the following documents:

• ACP-2010-32-4-312760.pdf

View BVdb publication page

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