Publications:

Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.

Acta Neuropathologica

Holdhof, Dörthe D; Johann, Pascal D PD; Spohn, Michael M; Bockmayr, Michael M; Safaei, Sepehr S; Joshi, Piyush P; Masliah-Planchon, Julien J; Ho, Ben B; Andrianteranagna, Mamy M; Bourdeaut, Franck F; Huang, Annie A; Kool, Marcel M; Upadhyaya, Santhosh A SA; Bendel, Anne E AE; Indenbirken, Daniela D; Foulkes, William D WD; Bush, Jonathan W JW; Creytens, David D; Kordes, Uwe U; Frühwald, Michael C MC; Hasselblatt, Martin M; Schüller, Ulrich U

Publication Date: 2021-02

Variant appearance in text: SMARCA4: 1757_1760del; K586Rfs*26

PubMed Link: 33331994

Variant Present in the following documents:

• Main text
• 401_2020_Article_2250.pdf

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Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts.

Gynecologic Oncology

Connor, Yamicia D YD; Miao, Diana D; Lin, Douglas I DI; Hayne, Cynthia C; Howitt, Brooke E BE; Dalrymple, John L JL; DeLeonardis, Kimberly R KR; Hacker, Michele R MR; Esselen, Katharine M KM; Shea, Meghan M

Publication Date: 2020-04

Variant appearance in text: SMARCA4: Lys586fs*26

PubMed Link: 31954538

Variant Present in the following documents:

• Main text

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: SMARCA4: 1757_1760delAGAA; Lys586Argfs

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s002.xlsx, sheet 1

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