Publications:

Circulating succinate-modifying metabolites accurately classify and reflect the status of fumarate hydratase-deficient renal cell carcinoma.

The Journal Of Clinical Investigation

Zheng, Liang L; Zhu, Zi-Ran ZR; Sneh, Tal T; Zhang, Weituo W; Wang, Zao-Yu ZY; Wu, Guang-Yu GY; He, Wei W; Qi, Hong-Gang HG; Wang, Hang H; Wu, Xiao-Yu XY; Fernández-García, Jonatan J; Abramovich, Ifat I; Xu, Yun-Ze YZ; Zhang, Jin J; Gottlieb, Eyal E

Publication Date: 2023-04-13

Variant appearance in text: FH: M382V

PubMed Link: 37053010

Variant Present in the following documents:

• Main text
• jci-133-165028.pdf

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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 1144A>G; Met382Val

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5

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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: FH: 1144A>G; M382V

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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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: FH: 1144A>G

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

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Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.

Endocrine-Related Cancer

Aissani, Brahim B; Zhang, Kui K; Mensenkamp, Arjen R AR; Menko, Fred H FH; Wiener, Howard W HW

Publication Date: 2015-08

Variant appearance in text: FH: Met382Val

PubMed Link: 26113603

Variant Present in the following documents:

• Main text
• ERC150208.pdf

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