Publications:

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Frontiers In Genetics

Ghorbani, Fatemeh F; Alimohamed, Mohamed Z MZ; Vilacha, Juliana F JF; Van Dijk, Krista K KK; De Boer-Bergsma, Jelkje J; Fokkens, Michiel R MR; Lemmink, Henny H; Sijmons, Rolf H RH; Sikkema-Raddatz, Birgit B; Groves, Matthew R MR; Verschuuren-Bemelmans, Corien C CC; Verbeek, Dineke S DS; Van Diemen, Cleo C CC; Westers, Helga H

Publication Date: 2022

Variant appearance in text: FAT1: 1940C>T; A647V

PubMed Link: 35401678

Variant Present in the following documents:

• Main text

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TERT promoter mutation and chromosome 6 loss define a high-risk subtype of ependymoma evolving from posterior fossa subependymoma.

Acta Neuropathologica

Thomas, Christian C; Thierfelder, Felix F; Träger, Malte M; Soschinski, Patrick P; Müther, Michael M; Edelmann, Dominic D; Förster, Alexandra A; Geiler, Carola C; Kim, Hee-Yeong HY; Filipski, Katharina K; Harter, Patrick N PN; Schittenhelm, Jens J; Eckert, Franziska F; Ntoulias, Georgios G; May, Sven-Axel SA; Stummer, Walter W; Onken, Julia J; Vajkoczy, Peter P; Schüller, Ulrich U; Heppner, Frank L FL; Capper, David D; Koch, Arend A; Kaul, David D; Paulus, Werner W; Hasselblatt, Martin M; Schweizer, Leonille L

Publication Date: 2021-06

Variant appearance in text: FAT1: A647V

PubMed Link: 33755803

Variant Present in the following documents:

• 401_2021_2300_MOESM3_ESM.xlsx, sheet 1

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Phase Ib study evaluating safety and clinical activity of the anti-HER3 antibody lumretuzumab combined with the anti-HER2 antibody pertuzumab and paclitaxel in HER3-positive, HER2-low metastatic breast cancer.

Investigational New Drugs

Schneeweiss, Andreas A; Park-Simon, Tjoung-Won TW; Albanell, Joan J; Lassen, Ulrik U; Cortés, Javier J; Dieras, Veronique V; May, Marcus M; Schindler, Christoph C; Marmé, Frederik F; Cejalvo, Juan Miguel JM; Martinez-Garcia, Maria M; Gonzalez, Iria I; Lopez-Martin, Jose J; Welt, Anja A; Levy, Christelle C; Joly, Florence F; Michielin, Francesca F; Jacob, Wolfgang W; Adessi, Céline C; Moisan, Annie A; Meneses-Lorente, Georgina G; Racek, Tomas T; James, Ian I; Ceppi, Maurizio M; Hasmann, Max M; Weisser, Martin M; Cervantes, Andrés A

Publication Date: 2018-10

Variant appearance in text: FAT1: A647V

PubMed Link: 29349598

Variant Present in the following documents:

• 10637_2018_562_MOESM2_ESM.xlsx, sheet 1

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: FAT1: A647V

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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