Publications:

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Letter to the Editor from Berthon: "Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma".

The Journal Of Clinical Endocrinology And Metabolism

Berthon, Annabel A; Libe, Rossella R; Bertherat, Jérôme J; Stratakis, Constantine A CA

Publication Date: 2020-11-01

Variant appearance in text: FH: Y270C

PubMed Link: 32808982

Variant Present in the following documents:

• Main text

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: 809A>G; Tyr270Cys; rs202060616

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 8
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia.

Schizophrenia Bulletin

Balakrishna, Thivia T; Curtis, David D

Publication Date: 2020-02-26

Variant appearance in text: FH: Y270C

PubMed Link: 31112269

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell

Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ

Publication Date: 2017-08-14

Variant appearance in text: FH: Y270C

PubMed Link: 28810143

Variant Present in the following documents:

• mmc4.xlsx, sheet 3

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: FH: Y270C; rs202060616

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.

Oncotarget

Lasorsa, Vito Alessandro VA; Formicola, Daniela D; Pignataro, Piero P; Cimmino, Flora F; Calabrese, Francesco Maria FM; Mora, Jaume J; Esposito, Maria Rosaria MR; Pantile, Marcella M; Zanon, Carlo C; De Mariano, Marilena M; Longo, Luca L; Hogarty, Michael D MD; de Torres, Carmen C; Tonini, Gian Paolo GP; Iolascon, Achille A; Capasso, Mario M

Publication Date: 2016-04-19

Variant appearance in text: FH: 809A>G; Y270C; rs202060616

PubMed Link: 27009842

Variant Present in the following documents:

• oncotarget-07-21840-s008.xlsx, sheet 1

View BVdb publication page

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