Publications:

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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: 761C>T; Pro254Leu

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: 761C>T; Pro254Leu

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: 761C>T; Pro254Leu; rs948484408

PubMed Link: 34452955

Variant Present in the following documents:

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

View BVdb publication page

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Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.

Cancers

Rijken, Johannes A JA; van Hulsteijn, Leonie T LT; Dekkers, Olaf M OM; Niemeijer, Nicolasine D ND; Leemans, C René CR; Eijkelenkamp, Karin K; van der Horst-Schrivers, Anouk N A ANA; Kerstens, Michiel N MN; van Berkel, Anouk A; Timmers, Henri J L M HJLM; Kunst, Henricus P M HPM; Bisschop, Peter H L T PHLT; Dreijerink, Koen M A KMA; van Dooren, Marieke F MF; Hes, Frederik J FJ; Jansen, Jeroen C JC; Corssmit, Eleonora P M EPM; Hensen, Erik F EF

Publication Date: 2019-01-17

Variant appearance in text: SDHB: 761C>T; Pro254Leu

PubMed Link: 30658386

Variant Present in the following documents:

• Main text
• cancers-11-00103.pdf

View BVdb publication page

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Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations.

Bjs Open

Rijken, J A JA; Niemeijer, N D ND; Leemans, C R CR; Eijkelenkamp, K K; van der Horst-Schrivers, A N A ANA; van Berkel, A A; Timmers, H J L M HJLM; Kunst, H P M HPM; Bisschop, P H L T PHLT; van Dooren, M F MF; Hes, F J FJ; Jansen, J C JC; Corssmit, E P M EPM; Hensen, E F EF

Publication Date: 2018-04

Variant appearance in text: SDHB: 761C>T; pro254Leu

PubMed Link: 29951630

Variant Present in the following documents:

• Main text
• BJS5-2-62.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: 761C>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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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: 761C>T; Pro254Leu

PubMed Link: 20208144

Variant Present in the following documents:

• ACP-2010-32-4-312760.pdf

View BVdb publication page

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