Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: SDHAF2: 232G>A; Gly78Arg

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Hypothesis: Why Different Types of SDH Gene Variants Cause Divergent Tumor Phenotypes.

Genes

Bayley, Jean-Pierre JP; Devilee, Peter P

Publication Date: 2022-06-07

Variant appearance in text: SDHAF2: Gly78Arg

PubMed Link: 35741787

Variant Present in the following documents:

• Main text
• genes-13-01025.pdf

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: SDHAF2: 232G>A; Gly78Arg

PubMed Link: 35171114

Variant Present in the following documents:

• Main text
• ERC-21-0359.pdf

View BVdb publication page

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Head and Neck Paragangliomas-A Genetic Overview.

International Journal Of Molecular Sciences

Majewska, Anna A; Budny, Bartłomiej B; Ziemnicka, Katarzyna K; Ruchała, Marek M; Wierzbicka, Małgorzata M

Publication Date: 2020-10-16

Variant appearance in text: SDHAF2: Gly78Arg

PubMed Link: 33081307

Variant Present in the following documents:

• Main text
• ijms-21-07669.pdf

View BVdb publication page

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Tinnitus With Unexpected Spanish Roots: Head and Neck Paragangliomas Caused by SDHAF2 Mutation.

Journal Of The Endocrine Society

Roose, Laura Maria LM; Rupp, Niels J NJ; Röösli, Christof C; Valcheva, Nadejda N; Weber, Achim A; Beuschlein, Felix F; Tschopp, Oliver O

Publication Date: 2020-03-01

Variant appearance in text: SDHAF2: 232G>A

PubMed Link: 32133432

Variant Present in the following documents:

• Main text
• bvaa016.pdf

View BVdb publication page

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A Family With a Carotid Body Paraganglioma and Thyroid Neoplasias With a New SDHAF2 Germline Variant.

Journal Of The Endocrine Society

Wolf, Katherine I KI; Jacobs, Michelle F MF; Mehra, Rohit R; Begani, Priya P; Davenport, Matthew S MS; Marentette, Lawrence J LJ; Basura, Gregory J GJ; Hughes, David T DT; Else, Tobias T

Publication Date: 2019-11-01

Variant appearance in text: SDHAF2: 232G>A; Gly78Arg

PubMed Link: 31687641

Variant Present in the following documents:

• Main text
• js.2018-00353.pdf

View BVdb publication page

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A systematic review on the genetic analysis of paragangliomas: primarily focused on head and neck paragangliomas.

Neoplasma

Guha, A A; Musil, Z Z; Vicha, A A; Zelinka, T T; Pacak, K K; Astl, J J; Chovanec, M M

Publication Date: 2019-09

Variant appearance in text: N/A

PubMed Link: 31307198

Variant Present in the following documents:

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: SDHAF2: 232G>A; Gly78Arg

PubMed Link: 31212687

Variant Present in the following documents:

• Main text
• cancers-11-00809.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: SDHAF2: 232G>A; Gly78Arg

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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Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Nature Communications

, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; Piñero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P

Publication Date: 2019-01-02

Variant appearance in text: PGL2: G78R

PubMed Link: 30602777

Variant Present in the following documents:

• 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1

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: SDHAF2: 232G>A; Gly78Arg; rs113560320

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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Human diseases associated with defects in assembly of OXPHOS complexes.

Essays In Biochemistry

Ghezzi, Daniele D; Zeviani, Massimo M

Publication Date: 2018-07-20

Variant appearance in text: SDHAF2: G78R

PubMed Link: 30030362

Variant Present in the following documents:

• Main text
• ebc-62-ebc20170099.pdf

View BVdb publication page

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Alternative assembly of respiratory complex II connects energy stress to metabolic checkpoints.

Nature Communications

Bezawork-Geleta, Ayenachew A; Wen, He H; Dong, LanFeng L; Yan, Bing B; Vider, Jelena J; Boukalova, Stepana S; Krobova, Linda L; Vanova, Katerina K; Zobalova, Renata R; Sobol, Margarita M; Hozak, Pavel P; Novais, Silvia Magalhaes SM; Caisova, Veronika V; Abaffy, Pavel P; Naraine, Ravindra R; Pang, Ying Y; Zaw, Thiri T; Zhang, Ping P; Sindelka, Radek R; Kubista, Mikael M; Zuryn, Steven S; Molloy, Mark P MP; Berridge, Michael V MV; Pacak, Karel K; Rohlena, Jakub J; Park, Sunghyouk S; Neuzil, Jiri J

Publication Date: 2018-06-07

Variant appearance in text: rs113560320

PubMed Link: 29880867

Variant Present in the following documents:

• 41467_2018_4603_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Crystal structure of bacterial succinate:quinone oxidoreductase flavoprotein SdhA in complex with its assembly factor SdhE.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Maher, Megan J MJ; Herath, Anuradha S AS; Udagedara, Saumya R SR; Dougan, David A DA; Truscott, Kaye N KN

Publication Date: 2018-03-20

Variant appearance in text: N/A

PubMed Link: 29514959

Variant Present in the following documents:

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: SDHAF2: 232G>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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Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.

Bmc Cancer

Dwight, Trisha T; Na, Un U; Kim, Edward E; Zhu, Ying Y; Richardson, Anne Louise AL; Robinson, Bruce G BG; Tucker, Katherine M KM; Gill, Anthony J AJ; Benn, Diana E DE; Clifton-Bligh, Roderick J RJ; Winge, Dennis R DR

Publication Date: 2017-07-24

Variant appearance in text: N/A

PubMed Link: 28738844

Variant Present in the following documents:

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: SDHAF2: 232G>A; Gly78Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

Jama Oncology

Bausch, Birke B; Schiavi, Francesca F; Ni, Ying Y; Welander, Jenny J; Patocs, Attila A; Ngeow, Joanne J; Wellner, Ulrich U; Malinoc, Angelica A; Taschin, Elisa E; Barbon, Giovanni G; Lanza, Virginia V; Söderkvist, Peter P; Stenman, Adam A; Larsson, Catharina C; Svahn, Fredrika F; Chen, Jin-Lian JL; Marquard, Jessica J; Fraenkel, Merav M; Walter, Martin A MA; Peczkowska, Mariola M; Prejbisz, Aleksander A; Jarzab, Barbara B; Hasse-Lazar, Kornelia K; Petersenn, Stephan S; Moeller, Lars C LC; Meyer, Almuth A; Reisch, Nicole N; Trupka, Arnold A; Brase, Christoph C; Galiano, Matthias M; Preuss, Simon F SF; Kwok, Pingling P; Lendvai, Nikoletta N; Berisha, Gani G; Makay, Özer Ö; Boedeker, Carsten C CC; Weryha, Georges G; Racz, Karoly K; Januszewicz, Andrzej A; Walz, Martin K MK; Gimm, Oliver O; Opocher, Giuseppe G; Eng, Charis C; Neumann, Hartmut P H HPH; ,

Publication Date: 2017-09-01

Variant appearance in text: SDHAF2: 232G>A

PubMed Link: 28384794

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mitochondrial Complex II: At the Crossroads.

Trends In Biochemical Sciences

Bezawork-Geleta, Ayenachew A; Rohlena, Jakub J; Dong, Lanfeng L; Pacak, Karel K; Neuzil, Jiri J

Publication Date: 2017-04

Variant appearance in text: SDHAF2: G78R

PubMed Link: 28185716

Variant Present in the following documents:

• Main text

View BVdb publication page

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Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.

Oncotarget

Hoekstra, Attje S AS; Hensen, Erik F EF; Jordanova, Ekaterina S ES; Korpershoek, Esther E; van der Horst-Schrivers, Anouk Na AN; Cornelisse, Cees C; Corssmit, Eleonora P M EP; Hes, Frederik J FJ; Jansen, Jeroen C JC; Kunst, Henricus P M HP; Timmers, Henri J L M HJ; Bateman, Adrian A; Eccles, Diana D; Bovée, Judith V M G JV; Devilee, Peter P; Bayley, Jean-Pierre JP

Publication Date: 2017-02-28

Variant appearance in text: SDHAF2: 232G>A; Gly78Arg

PubMed Link: 28099933

Variant Present in the following documents:

• Main text
• oncotarget-08-14525-s002.xls, sheet 1
• oncotarget-08-14525.pdf

View BVdb publication page

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The Assembly Factor SDHAF2 Is Dispensable for Flavination of the Catalytic Subunit of Mitochondrial Complex II in Breast Cancer Cells.

The Journal Of Biological Chemistry

Bezawork-Geleta, Ayenachew A; Dong, Lanfeng L; Rohlena, Jakub J; Neuzil, Jiri J

Publication Date: 2016-10-07

Variant appearance in text: N/A

PubMed Link: 27587393

Variant Present in the following documents:

View BVdb publication page

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Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.

Oncotarget

Hoekstra, Attje S AS; de Graaff, Marieke A MA; Briaire-de Bruijn, Inge H IH; Ras, Cor C; Seifar, Reza Maleki RM; van Minderhout, Ivonne I; Cornelisse, Cees J CJ; Hogendoorn, Pancras C W PC; Breuning, Martijn H MH; Suijker, Johnny J; Korpershoek, Esther E; Kunst, Henricus P M HP; Frizzell, Norma N; Devilee, Peter P; Bayley, Jean-Pierre JP; Bovée, Judith V M G JV

Publication Date: 2015-11-17

Variant appearance in text: SDHAF2: 232G>A

PubMed Link: 26472283

Variant Present in the following documents:

• oncotarget-06-38777-s002.xlsx, sheet 1

View BVdb publication page

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Decoding Warburg's hypothesis: tumor-related mutations in the mitochondrial respiratory chain.

Oncotarget

Garcia-Heredia, Jose M JM; Carnero, Amancio A

Publication Date: 2015-12-08

Variant appearance in text: SDHAF2: G78R

PubMed Link: 26462158

Variant Present in the following documents:

• Main text
• oncotarget-06-41582.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: N/A

PubMed Link: 26206375

Variant Present in the following documents:

View BVdb publication page

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Paragangliomas/Pheochromocytomas: clinically oriented genetic testing.

International Journal Of Endocrinology

Martins, Rute R; Bugalho, Maria João MJ

Publication Date: 2014

Variant appearance in text: SDHAF2: 232G>A

PubMed Link: 24899893

Variant Present in the following documents:

• Main text
• IJE2014-794187.pdf

View BVdb publication page

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Sequence diversity and conservation in factors influencing succinate dehydrogenase flavinylation.

Plant Signaling & Behavior

Huang, Shaobai S; Millar, A Harvey AH

Publication Date: 2013-02

Variant appearance in text: N/A

PubMed Link: 23154507

Variant Present in the following documents:

View BVdb publication page

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Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

Cancer Genetics

Fishbein, Lauren L; Nathanson, Katherine L KL

Publication Date: 2012

Variant appearance in text: SDH5: 232G>A

PubMed Link: 22429592

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma.

Familial Cancer

Hensen, Erik F EF; Bayley, Jean-Pierre JP

Publication Date: 2011-06

Variant appearance in text: SDHAF2: 232G>A

PubMed Link: 21082267

Variant Present in the following documents:

• Main text
• 10689_2010_Article_9402.pdf

View BVdb publication page

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