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: PALB2: 1050_1051delinsTCT; Gln350fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: PALB2: 1050_1051delAAinsTCT; Q350fs; rs180177098

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Germline breast cancer susceptibility gene mutations and breast cancer outcomes.

Bmc Cancer

Wang, Yong Alison YA; Jian, Jhih-Wei JW; Hung, Chen-Fang CF; Peng, Hung-Pin HP; Yang, Chi-Fan CF; Cheng, Hung-Chun Skye HS; Yang, An-Suei AS

Publication Date: 2018-03-22

Variant appearance in text: PALB2: 1050_1051delAAinsTCT; Gln350Hisfs; rs180177098

PubMed Link: 29566657

Variant Present in the following documents:

• Main text
• 12885_2018_Article_4229.pdf
• 12885_2018_4229_MOESM2_ESM.xlsx, sheet 1

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Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.

Plos One

Yang, Xiaochen X; Wu, Jiong J; Lu, Jingsong J; Liu, Guangyu G; Di, Genhong G; Chen, Canming C; Hou, Yifeng Y; Sun, Menghong M; Yang, Wentao W; Xu, Xiaojing X; Zhao, Ying Y; Hu, Xin X; Li, Daqiang D; Cao, Zhigang Z; Zhou, Xiaoyan X; Huang, Xiaoyan X; Liu, Zhebin Z; Chen, Huan H; Gu, Yanzi Y; Chi, Yayun Y; Yan, Xia X; Han, Qixia Q; Shen, Zhenzhou Z; Shao, Zhimin Z; Hu, Zhen Z

Publication Date: 2015

Variant appearance in text: PALB2: 1050_1051delinsTCT; Q350Hfs*11

PubMed Link: 25927356

Variant Present in the following documents:

• Main text

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PALB2 and breast cancer: ready for clinical translation!

The Application Of Clinical Genetics

Southey, Melissa C MC; Teo, Zhi L ZL; Winship, Ingrid I

Publication Date: 2013

Variant appearance in text: N/A

PubMed Link: 23935381

Variant Present in the following documents:

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