Publications:

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Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas.

Npj Genomic Medicine

Ichikawa, Daisuke D; Yamashita, Kyoko K; Okuno, Yusuke Y; Muramatsu, Hideki H; Murakami, Norihiro N; Suzuki, Kyogo K; Kojima, Daiei D; Kataoka, Shinsuke S; Hamada, Motoharu M; Taniguchi, Rieko R; Nishikawa, Eri E; Kawashima, Nozomu N; Narita, Atsushi A; Nishio, Nobuhiro N; Hama, Asahito A; Kasai, Kenji K; Mizuno, Seiji S; Shimoyama, Yoshie Y; Nakaguro, Masato M; Okita, Hajime H; Kojima, Seiji S; Nakazawa, Atsuko A; Takahashi, Yoshiyuki Y

Publication Date: 2021-06-15

Variant appearance in text: SMARCA4: 3168+1G>A

PubMed Link: 34131151

Variant Present in the following documents:

• Main text
• 41525_2021_Article_210.pdf

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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: 3168+1G>A

PubMed Link: 33331994

Variant Present in the following documents:

• 401_2020_2250_MOESM1_ESM.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: 3168+1G>A

PubMed Link: 31954538

Variant Present in the following documents:

• Main text

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An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.

Journal Of Cancer

Lu, Bingjian B; Shi, Haiyan H

Publication Date: 2019

Variant appearance in text: SMARCA4: 3168+1G>A

PubMed Link: 30662543

Variant Present in the following documents:

• Main text
• jcav10p0223.pdf

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SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

The Journal Of Pathology

Errichiello, Edoardo E; Mustafa, Noor N; Vetro, Annalisa A; Notarangelo, Lucia Dora LD; de Jonge, Hugo H; Rinaldi, Berardo B; Vergani, Debora D; Giglio, Sabrina Rita SR; Morbini, Patrizia P; Zuffardi, Orsetta O

Publication Date: 2017-09

Variant appearance in text: SMARCA4: 3168+1G>A

PubMed Link: 28608987

Variant Present in the following documents:

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Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

Nature Genetics

Ramos, Pilar P; Karnezis, Anthony N AN; Craig, David W DW; Sekulic, Aleksandar A; Russell, Megan L ML; Hendricks, William P D WP; Corneveaux, Jason J JJ; Barrett, Michael T MT; Shumansky, Karey K; Yang, Yidong Y; Shah, Sohrab P SP; Prentice, Leah M LM; Marra, Marco A MA; Kiefer, Jeffrey J; Zismann, Victoria L VL; McEachron, Troy A TA; Salhia, Bodour B; Prat, Jaime J; D'Angelo, Emanuela E; Clarke, Blaise A BA; Pressey, Joseph G JG; Farley, John H JH; Anthony, Stephen P SP; Roden, Richard B S RB; Cunliffe, Heather E HE; Huntsman, David G DG; Trent, Jeffrey M JM

Publication Date: 2014-05

Variant appearance in text: SMARCA4: 3168+1G>A

PubMed Link: 24658001

Variant Present in the following documents:

• Main text

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