Publications:

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A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

Human Genome Variation

Yagi, Yasuto Y; Abeto, Naoko N; Shiraishi, Junichi J; Miyata, Chieko C; Inoue, Satomi S; Murakami, Haruka H; Nakashima, Moeko M; Sugano, Kokichi K; Ushiama, Mineko M; Yoshida, Teruhiko T; Yamazawa, Kazuki K

Publication Date: 2022-01-17

Variant appearance in text: FH: 1021G>A; Asp341Asn

PubMed Link: 35034951

Variant Present in the following documents:

• 41439_2021_180_MOESM1_ESM.pdf

View BVdb publication page

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A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

Human Genome Variation

Yagi, Yasuto Y; Abeto, Naoko N; Shiraishi, Junichi J; Miyata, Chieko C; Inoue, Satomi S; Murakami, Haruka H; Nakashima, Moeko M; Sugano, Kokichi K; Ushiama, Mineko M; Yoshida, Teruhiko T; Yamazawa, Kazuki K

Publication Date: 2022-01-17

Variant appearance in text: FH: 1021G>A; Asp341Asn

PubMed Link: 35034951

Variant Present in the following documents:

• 41439_2021_180_MOESM1_ESM.pdf

View BVdb publication page

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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: 1021G>A; Asp341Asn

PubMed Link: 32612247

Variant Present in the following documents:

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

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: FH: 1021G>A; Asp341Asn

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s005.xlsx, sheet 1
• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas.

Bmc Research Notes

Kuwada, Masaomi M; Chihara, Yoshitomo Y; Lou, Yi Y; Torimoto, Kazumasa K; Kagebayashi, Yoriaki Y; Tamura, Kenji K; Shuin, Taro T; Fujimoto, Kiyohide K; Kuniyasu, Hiroki H; Samma, Shoji S

Publication Date: 2014-03-31

Variant appearance in text: FH: 1021G>A; D341N

PubMed Link: 24684806

Variant Present in the following documents:

• Main text
• 1756-0500-7-203.pdf

View BVdb publication page

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Exploring a glycolytic inhibitor for the treatment of an FH-deficient type-2 papillary RCC.

Nature Reviews. Urology

Yamasaki, Toshinari T; Tran, Tram Anh T TA; Oz, Orhan K OK; Raj, Ganesh V GV; Schwarz, Roderich E RE; Deberardinis, Ralph J RJ; Zhang, Xuewu X; Brugarolas, James J

Publication Date: 2011-03

Variant appearance in text: FH: 1021G>A; Asp341Asn

PubMed Link: 21304509

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

Journal Of Medical Genetics

Edghill, E L EL; Bingham, C C; Ellard, S S; Hattersley, A T AT

Publication Date: 2006-01

Variant appearance in text: FH: 1021G>A

PubMed Link: 15930087

Variant Present in the following documents:

• Main text

View BVdb publication page

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