Publications:

Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: FH: A274T

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

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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: 820G>A; Ala274Thr

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

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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: 820G>A; A274T

PubMed Link: 21445611

Variant Present in the following documents:

• Main text
• 10545_2011_Article_9294.pdf

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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: Ala274Thr

PubMed Link: 18366737

Variant Present in the following documents:

• 1471-2350-9-20.pdf

View BVdb publication page