Publications:

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Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series.

Clinical Case Reports

Franke, Keith K; Vagher, Jennie J; Boyle, Julie J; Hall, April A; Smith-Simmer, Kelcy K

Publication Date: 2022-03

Variant appearance in text: FH: A308T

PubMed Link: 35251648

Variant Present in the following documents:

• Main text
• CCR3-10-e05513.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: 922G>A; Ala308Thr

PubMed Link: 32612247

Variant Present in the following documents:

• Main text
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_Article_596.pdf
• 41379_2020_596_MOESM3_ESM.pdf

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Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease

Semenova, Anna E AE; Sergienko, Igor V IV; García-Giustiniani, Diego D; Monserrat, Lorenzo L; Popova, Anna B AB; Nozadze, Diana N DN; Ezhov, Marat V MV

Publication Date: 2020-05-14

Variant appearance in text: FH: 922G>A

PubMed Link: 32423031

Variant Present in the following documents:

• Main text
• jcdd-07-00016.pdf

View BVdb publication page

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Biochemical Characterization of Two Clinically-Relevant Human Fumarase Variants Defective for Oligomerization.

The Open Biochemistry Journal

Bulku, Artemisa A; Weaver, Todd M TM; Berkmen, Melanie B MB

Publication Date: 2018

Variant appearance in text: FH: 922G>A; A308T

PubMed Link: 29456767

Variant Present in the following documents:

• Main text
• TOBIOCJ-12-1.pdf

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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: FH: A308T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Structural basis of fumarate hydratase deficiency.

Journal Of Inherited Metabolic Disease

Picaud, Sarah S; Kavanagh, Kathryn L KL; Yue, Wyatt W WW; Lee, Wen Hwa WH; Muller-Knapp, Susanne S; Gileadi, Opher O; Sacchettini, James J; Oppermann, Udo U

Publication Date: 2011-06

Variant appearance in text: FH: 922G>A; A308T

PubMed Link: 21445611

Variant Present in the following documents:

• Main text
• 10545_2011_Article_9294.pdf

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: FH: A308T

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 2
• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

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The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

Bmc Medical Genetics

Bayley, Jean-Pierre JP; Launonen, Virpi V; Tomlinson, Ian P M IP

Publication Date: 2008-03-25

Variant appearance in text: FH: Ala308Thr

PubMed Link: 18366737

Variant Present in the following documents:

• 1471-2350-9-20.pdf

View BVdb publication page

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