Publications:

Identification of sequence variants associated with severe microtia-astresia by targeted sequencing.

Bmc Medical Genomics

Wang, Pu P; Wang, Yibei Y; Fan, Xinmiao X; Liu, Yaping Y; Fan, Yue Y; Liu, Tao T; Chen, Chongjian C; Zhang, Shuyang S; Chen, Xiaowei X

Publication Date: 2019-01-28

Variant appearance in text: rs12288387

PubMed Link: 30691450

Variant Present in the following documents:

• Main text
• 12920_2019_Article_475.pdf

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Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse.

Molecular Genetics & Genomic Medicine

Clemenceau, Alisson A; Bérubé, Jean-Christophe JC; Bélanger, Paméla P; Gaudreault, Nathalie N; Lamontagne, Maxime M; Toubal, Oumhani O; Clavel, Marie-Annick MA; Capoulade, Romain R; Mathieu, Patrick P; Pibarot, Philippe P; Bosse, Yohan Y

Publication Date: 2018-01

Variant appearance in text: rs12288387

PubMed Link: 29224215

Variant Present in the following documents:

• Main text
• MGG3-6-114.pdf
• MGG3-6-114-s003.xlsx, sheet 1

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs12288387

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

Plos One

Egan, Jan B JB; Barrett, Michael T MT; Champion, Mia D MD; Middha, Sumit S; Lenkiewicz, Elizabeth E; Evers, Lisa L; Francis, Princy P; Schmidt, Jessica J; Shi, Chang-Xin CX; Van Wier, Scott S; Badar, Sandra S; Ahmann, Gregory G; Kortuem, K Martin KM; Boczek, Nicole J NJ; Fonseca, Rafael R; Craig, David W DW; Carpten, John D JD; Borad, Mitesh J MJ; Stewart, A Keith AK

Publication Date: 2014

Variant appearance in text: rs12288387

PubMed Link: 24505276

Variant Present in the following documents:

• pone.0087113.s004.xls, sheet 1

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