Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: APC: 3994dup; Thr1332fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: APC: 3992_3993insA; Thr1332Asnfs*10

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Wang, Dan D; Zhang, Zhao Z; Li, Yuwei Y; Xu, Chen C; Yu, Yongjun Y; Li, Mingsen M; Chen, Chao C; Zhang, Xipeng X

Publication Date: 2019-05-22

Variant appearance in text: APC: 3992_3993insA; Thr1332Asnfs*10

PubMed Link: 31113927

Variant Present in the following documents:

• Main text
• medscimonit-25-3796.pdf

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Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis.

Molecular Genetics & Genomic Medicine

Wang, Dan D; Liang, Shengyun S; Zhang, Xipeng X; Dey, Subrata Kumar SK; Li, Yuwei Y; Xu, Chen C; Yu, Yongjun Y; Li, Mingsen M; Zhao, Guoru G; Zhang, Zhao Z

Publication Date: 2019-01

Variant appearance in text: APC: 3992_3993insA; Thr1332Asnfs*10

PubMed Link: 30523670

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

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A Challenging Treatment Decision for a Rare Association: Case Report of Familial Turcot Syndrome With Fistulizing Crohn's Disease.

Frontiers In Pediatrics

Corbera-Hincapie, Montserrat M; Beasley, Genie L GL

Publication Date: 2018

Variant appearance in text: APC: 3994dupA

PubMed Link: 29670872

Variant Present in the following documents:

• Main text
• fped-06-00083.pdf

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