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: 1029del

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 1029delC; Cys343Ter

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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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: 1029delC; Cys343*

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka.

Bmc Medical Genetics

Indika, Neluwa Liyanage Ruwan NLR; Vidanapathirana, Dinesha Maduri DM; Dilanthi, Hewa Warawitage HW; Kularatnam, Grace Angeline Malarnangai GAM; Chandrasiri, Nambage Dona Priyani Dhammika NDPD; Jasinge, Eresha E

Publication Date: 2019-05-24

Variant appearance in text: CFTR: 1029delC

PubMed Link: 31126253

Variant Present in the following documents:

• Main text
• 12881_2019_Article_815.pdf

View BVdb publication page

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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: 1029delC; C343*

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CFTR: 1029delC; Cys343Terfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.

Plos Genetics

Henderson, Lindsay B LB; Doshi, Vishal K VK; Blackman, Scott M SM; Naughton, Kathleen M KM; Pace, Rhonda G RG; Moskovitz, Jackob J; Knowles, Michael R MR; Durie, Peter R PR; Drumm, Mitchell L ML; Cutting, Garry R GR

Publication Date: 2012

Variant appearance in text: CFTR: 1029delC; Cys343X

PubMed Link: 22438829

Variant Present in the following documents:

• Main text
• pgen.1002580.pdf

View BVdb publication page

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