Publications:

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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: CFTR: 1766+5G>T

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.

Frontiers In Genetics

Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Chui, Martin Man Chun MMC; Yu, Mullin Ho Chung MHC; Fung, Jasmine Lee Fong JLF; Mak, Christopher Chun Yu CCY; Chau, Christy Shuk-Kuen CS; Siu, Ka Ka KK; Hung, Jacqueline J; Yeung, Kit San KS; Kwong, Anna Ka Yee AKY; O'Callaghan, Christopher C; Lau, Yu Lung YL; Lee, Chun-Wai Davy CD; Chung, Brian Hon-Yin BH; Lee, So-Lun SL

Publication Date: 2022

Variant appearance in text: CFTR: 1766+5G>T

PubMed Link: 36003331

Variant Present in the following documents:

• Main text
• fgene-13-933381.pdf

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Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics

Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S

Publication Date: 2022-07-20

Variant appearance in text: CFTR: 1766+5G>T

PubMed Link: 35858753

Variant Present in the following documents:

• Main text
• jmg-2022-108501supp001.pdf
• jmg-2022-108501.pdf

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1766+5G>T; rs121908796

PubMed Link: 35313924

Variant Present in the following documents:

• Main text
• 13023_2022_2279_MOESM3_ESM.xls, sheet 1
• 13023_2022_Article_2279.pdf
• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

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Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.

The European Respiratory Journal

Muilwijk, Danya D; de Poel, Eyleen E; van Mourik, Peter P; Suen, Sylvia W F SWF; Vonk, Annelotte M AM; Brunsveld, Jesse E JE; Kruisselbrink, Evelien E; Oppelaar, Hugo H; Hagemeijer, Marne C MC; Berkers, Gitte G; de Winter-de Groot, Karin M KM; Heida-Michel, Sabine S; Jans, Stephan R SR; van Panhuis, Hannah H; van der Eerden, Menno M MM; van der Meer, Renske R; Roukema, Jolt J; Dompeling, Edward E; Weersink, Els J M EJM; Koppelman, Gerard H GH; Vries, Robert R; Zomer-van Ommen, Domenique D DD; Eijkemans, Marinus J C MJC; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM

Publication Date: 2022-08

Variant appearance in text: CFTR: 1766+5G>T

PubMed Link: 35086832

Variant Present in the following documents:

• ERJ-00508-2021.Supplement.pdf

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A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 1766+5G>T

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

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A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 1766+5G>T

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

View BVdb publication page

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Abstracts of the 14th Asian Congress of Pediatric Nephrology, Taipei, Taiwan, March 2021.

Pediatric Nephrology (Berlin, Germany)

Publication Date: 2021-06-09

Variant appearance in text: CFTR: 1766+5G>T

PubMed Link: 34106318

Variant Present in the following documents:

• 467_2021_Article_5079.pdf

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: CFTR: 1766+5G>T; rs121908796

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: CFTR: 1766+5G>T; rs121908796

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.

World Journal Of Clinical Cases

Wang, Yu-Qing YQ; Hao, Chuang-Li CL; Jiang, Wu-Jun WJ; Lu, Yan-Hong YH; Sun, Hui-Quan HQ; Gao, Chun-Yan CY; Wu, Min M

Publication Date: 2019-08-06

Variant appearance in text: CFTR: 1766+5G>T

PubMed Link: 31423445

Variant Present in the following documents:

• Main text
• WJCC-7-2110.pdf

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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: CFTR: 1766+5G>T

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Beauchamp, Kyle A KA; Johansen Taber, Katherine A KA; Grauman, Peter V PV; Spurka, Lindsay L; Lim-Harashima, Jeraldine J; Svenson, Ashley A; Goldberg, James D JD; Muzzey, Dale D

Publication Date: 2019-11

Variant appearance in text: CFTR: 1766+5G>T

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

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Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Frontiers In Pediatrics

Li, Haiyan H; Lin, Li L; Hu, Xiaoguang X; Li, Changchong C; Zhang, Hailin H

Publication Date: 2019

Variant appearance in text: CFTR: 1766+5G>T

PubMed Link: 30842938

Variant Present in the following documents:

• Main text
• fped-07-00036.pdf

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: CFTR: 1766+5G>T; rs121908796

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

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CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.

Molecular Genetics & Genomic Medicine

Leung, Gordon K C GK; Ying, Dingge D; Mak, Christopher C Y CC; Chen, Xin-Ying XY; Xu, Weiyi W; Yeung, Kit-San KS; Wong, Wai-Lap WL; Chu, Yoyo W Y YW; Mok, Gary T K GT; Chau, Christy S K CS; McLuskey, Jenna J; Ong, Winnie P T WP; Leong, Huey-Yin HY; Chan, Kelvin Y K KY; Yang, Wanling W; Chen, Jeng-Haur JH; Li, Albert M AM; Sham, Pak C PC; Lau, Yu-Lung YL; Chung, Brian H Y BH; Lee, So-Lun SL

Publication Date: 2017-01

Variant appearance in text: CFTR: 1766+5G>T

PubMed Link: 28116329

Variant Present in the following documents:

• Main text

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p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.

Human Genome Variation

Tian, Xinlun X; Liu, Yaping Y; Yang, Jun J; Wang, Han H; Liu, Tao T; Xu, Wenbing W; Li, Xue X; Zhu, Yuanjue Y; Xu, Kai-Feng KF; Zhang, Xue X

Publication Date: 2016

Variant appearance in text: CFTR: 1766+5G>T

PubMed Link: 27081564

Variant Present in the following documents:

• Main text

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