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: 3717+40A>G

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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Splicing mutations in the CFTR gene as therapeutic targets.

Gene Therapy

Deletang, Karine K; Taulan-Cadars, Magali M

Publication Date: 2022-08

Variant appearance in text: CFTR: 3717+40A>G

PubMed Link: 35650428

Variant Present in the following documents:

• 41434_2022_347_MOESM2_ESM.pdf

View BVdb publication page

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Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Plos Genetics

Joynt, Anya T AT; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis-Marcisak, Emily F EF; Aksit, Melis A MA; Eastman, Alice C AC; Patel, Shivani U SU; Paul, Kathleen C KC; Osorio, Derek L DL; Bowling, Alyssa D AD; Cotton, Calvin U CU; Raraigh, Karen S KS; West, Natalie E NE; Merlo, Christian A CA; Cutting, Garry R GR; Sharma, Neeraj N

Publication Date: 2020-10

Variant appearance in text: CFTR: 3717+40A>G

PubMed Link: 33085659

Variant Present in the following documents:

• Main text
• pgen.1009100.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: CFTR: 3717+40A>G

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: 3717+40A>G

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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Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

American Journal Of Human Genetics

Lee, Melissa M; Roos, Patrick P; Sharma, Neeraj N; Atalar, Melis M; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Lam, Anh-Thu N AN; Stanley, Susan E SE; Khalil, Sara E SE; Solomon, George M GM; Walker, Doug D; Raraigh, Karen S KS; Vecchio-Pagan, Briana B; Armanios, Mary M; Cutting, Garry R GR

Publication Date: 2017-05-04

Variant appearance in text: CFTR: 3717+40A>G; rs397508595

PubMed Link: 28475858

Variant Present in the following documents:

• Main text

View BVdb publication page

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