Publications:

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Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.

Frontiers In Genetics

Srivastava, Priyanka P; Bamba, Chitra C; Chopra, Seema S; Rohilla, Minakshi M; Chaudhry, Chakshu C; Kaur, Anupriya A; Panigrahi, Inusha I; Mandal, Kausik K

Publication Date: 2023

Variant appearance in text: CFTR: 3209G>A; Arg1070Gln

PubMed Link: 37260775

Variant Present in the following documents:

• Main text
• fgene-14-1155211.pdf

View BVdb publication page

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Magnetic resonance imaging detects onset and association with lung disease severity of bronchial artery dilatation in cystic fibrosis.

Erj Open Research

Leutz-Schmidt, Patricia P; Optazaite, Daiva-Elzbieta DE; Sommerburg, Olaf O; Eichinger, Monika M; Wege, Sabine S; Steinke, Eva E; Graeber, Simon Y SY; Puderbach, Michael U MU; Schenk, Jens-Peter JP; Alrajab, Abdulsattar A; Triphan, Simon M F SMF; Kauczor, Hans-Ulrich HU; Stahl, Mirjam M; Mall, Marcus A MA; Wielpütz, Mark O MO

Publication Date: 2023-03

Variant appearance in text: CFTR: R1070Q

PubMed Link: 37009019

Variant Present in the following documents:

• 00473-2022.SUPPLEMENT.pdf

View BVdb publication page

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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: 3209G>A; Arg1070Gln

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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Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)

Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2022-12-20

Variant appearance in text: CFTR: R1070Q

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

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Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.

Scientific Reports

Qu, Xiaowei X; Li, Lingyi L; Cui, Chenchen C; Feng, Ke K; Xia, Yanqing Y; Wan, Feng F; Zhang, Cuilian C; Guo, Haibin H

Publication Date: 2023-01-05

Variant appearance in text: CFTR: 3209G>A; Arg1070Gln

PubMed Link: 36604502

Variant Present in the following documents:

• 41598_2022_26384_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Nature Communications

Chan, Sock Hoai SH; Bylstra, Yasmin Y; Teo, Jing Xian JX; Kuan, Jyn Ling JL; Bertin, Nicolas N; Gonzalez-Porta, Mar M; Hebrard, Maxime M; Tirado-Magallanes, Roberto R; Tan, Joanna Hui Juan JHJ; Jeyakani, Justin J; Li, Zhihui Z; Chai, Jin Fang JF; Chong, Yap Seng YS; Davila, Sonia S; Goh, Liuh Ling LL; Lee, Eng Sing ES; Wong, Eleanor E; Wong, Tien Yin TY; , ; Prabhakar, Shyam S; Liu, Jianjun J; Cheng, Ching-Yu CY; Eisenhaber, Birgit B; Karnani, Neerja N; Leong, Khai Pang KP; Sim, Xueling X; Yeo, Khung Keong KK; Chambers, John C JC; Tai, E-Shyong ES; Tan, Patrick P; Jamuar, Saumya S SS; Ngeow, Joanne J; Lim, Weng Khong WK

Publication Date: 2022-11-05

Variant appearance in text: rs78769542

PubMed Link: 36335097

Variant Present in the following documents:

• Main text
• 41467_2022_Article_34116.pdf

View BVdb publication page

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Author Correction: Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology

Anglès, Frédéric F; Wang, Chao C; Balch, William E WE

Publication Date: 2022-05-18

Variant appearance in text: CFTR: R1070Q

PubMed Link: 35585144

Variant Present in the following documents:

• 42003_2022_3457_MOESM1_ESM.pdf

View BVdb publication page

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CFTR Modulator Therapies: Potential Impact on Airway Infections in Cystic Fibrosis.

Cells

Saluzzo, Francesca F; Riberi, Luca L; Messore, Barbara B; Loré, Nicola Ivan NI; Esposito, Irene I; Bignamini, Elisabetta E; De Rose, Virginia V

Publication Date: 2022-04-06

Variant appearance in text: CFTR: R1070Q

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

View BVdb publication page

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Pharmacogenomic landscape of Indian population using whole genomes.

Clinical And Translational Science

Sahana, S S; Bhoyar, Rahul C RC; Sivadas, Ambily A; Jain, Abhinav A; Imran, Mohamed M; Rophina, Mercy M; Senthivel, Vigneshwar V; Kumar Diwakar, Mohit M; Sharma, Disha D; Mishra, Anushree A; Sivasubbu, Sridhar S; Scaria, Vinod V

Publication Date: 2022-04

Variant appearance in text: rs78769542

PubMed Link: 35338580

Variant Present in the following documents:

• Main text
• CTS-15-866.pdf

View BVdb publication page

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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: 3209G>A; R1070Q; rs78769542

PubMed Link: 35313924

Variant Present in the following documents:

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

View BVdb publication page

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Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open

Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y

Publication Date: 2022-02-01

Variant appearance in text: CFTR: 3209G>A; Arg1070Gln

PubMed Link: 35171259

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open

Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y

Publication Date: 2022-02-01

Variant appearance in text: CFTR: 3209G>A; Arg1070Gln

PubMed Link: 35171259

Variant Present in the following documents:

• Main text

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: CFTR: R1070Q; rs78769542

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 4

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: CFTR: R1070Q; rs78769542

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 4

View BVdb publication page

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Can two wrongs make a right? F508del-CFTR ion channel rescue by second-site mutations in its transmembrane domains.

The Journal Of Biological Chemistry

Prins, Stella S; Corradi, Valentina V; Sheppard, David N DN; Tieleman, D Peter DP; Vergani, Paola P

Publication Date: 2022-03

Variant appearance in text: CFTR: R1070Q

PubMed Link: 35065958

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs78769542

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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State of the Art on Approved Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators and Triple-Combination Therapy.

Pharmaceuticals (Basel, Switzerland)

Meoli, Aniello A; Fainardi, Valentina V; Deolmi, Michela M; Chiopris, Giulia G; Marinelli, Francesca F; Caminiti, Caterina C; Esposito, Susanna S; Pisi, Giovanna G

Publication Date: 2021-09-15

Variant appearance in text: CFTR: R1070Q

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.pdf

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs78769542

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: CFTR: 3209G>A; rs78769542

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

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F1099L-CFTR (c.3297C>G) has Impaired Channel Function and Associates with Mild Disease Phenotypes in Two Pediatric Patients.

Life (Basel, Switzerland)

Zhang, Xiaoying X; Hothi, Jaspal S JS; Zhang, Yanhui H YH; Ren, Aixia A; Rock, Michael J MJ; Srinivasan, Saumini S; Stokes, Dennis C DC; Naren, Anjaparavanda P AP; Zhang, Weiqiang W

Publication Date: 2021-02-08

Variant appearance in text: CFTR: R1070Q

PubMed Link: 33567498

Variant Present in the following documents:

• Main text
• life-11-00131.pdf

View BVdb publication page

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Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg

Publication Date: 2020-12

Variant appearance in text: CFTR: 3209G>A; Arg1070Gln

PubMed Link: 33262486

Variant Present in the following documents:

• Main text
• 41431_2020_Article_741.pdf

View BVdb publication page

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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Npj Genomic Medicine

Cheema, Huma H; Bertoli-Avella, Aida M AM; Skrahina, Volha V; Anjum, Muhammad Nadeem MN; Waheed, Nadia N; Saeed, Anjum A; Beetz, Christian C; Perez-Lopez, Jordi J; Rocha, Maria Eugenia ME; Alawbathani, Salem S; Pereira, Catarina C; Hovakimyan, Marina M; Patric, Irene Rosita Pia IRP; Paknia, Omid O; Ameziane, Najim N; Cozma, Claudia C; Bauer, Peter P; Rolfs, Arndt A

Publication Date: 2020

Variant appearance in text: CFTR: 3209G>A; Arg1070Gln

PubMed Link: 33083013

Variant Present in the following documents:

• 41525_2020_150_MOESM1_ESM.pdf

View BVdb publication page

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Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.

The Journal Of Biological Chemistry

Prins, Stella S; Langron, Emily E; Hastings, Cato C; Hill, Emily J EJ; Stefan, Andra C AC; Griffin, Lewis D LD; Vergani, Paola P

Publication Date: 2020-12-04

Variant appearance in text: CFTR: R1070Q

PubMed Link: 32934006

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Transcriptomic and Proteostasis Networks of CFTR and the Development of Small Molecule Modulators for the Treatment of Cystic Fibrosis Lung Disease.

Genes

Strub, Matthew D MD; McCray, Paul B PB

Publication Date: 2020-05-13

Variant appearance in text: CFTR: R1070Q

PubMed Link: 32414011

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

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

Westemeyer, Maggie M; Saucier, Jennifer J; Wallace, Jody J; Prins, Sarah A SA; Shetty, Aparna A; Malhotra, Meenakshi M; Demko, Zachary P ZP; Eng, Christine M CM; Weckstein, Louis L; Boostanfar, Robert R; Rabinowitz, Matthew M; Benn, Peter P; Keen-Kim, Dianne D; Billings, Paul P

Publication Date: 2020-08

Variant appearance in text: CFTR: 3209G>A; R1070Q

PubMed Link: 32366966

Variant Present in the following documents:

• Main text
• 41436_2020_Article_807.pdf

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: 3209G>A; Arg1070Gln; rs78769542

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapy: A Review for the Otolaryngologist.

American Journal Of Rhinology & Allergy

Lee, Saangyoung E SE; Farzal, Zainab Z; Daniels, M Leigh Anne MLA; Thorp, Brian D BD; Zanation, Adam M AM; Senior, Brent A BA; Ebert, Charles S CS; Kimple, Adam J AJ

Publication Date: 2020-07

Variant appearance in text: CFTR: R1070Q

PubMed Link: 32168995

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cost of precision medicine at a referral center for cystic fibrosis.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia

Marson, Fernando Augusto Lima FAL

Publication Date: 2020-03-02

Variant appearance in text: CFTR: R1070Q

PubMed Link: 32130336

Variant Present in the following documents:

• Main text
• 1806-3713-jbpneu-46-02-e20190308.pdf

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CFTR: 3209G>A; R1070Q

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: CFTR: 3209G>A; Arg1070Gln; rs78769542

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 16
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 13
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Cystic fibrosis precision therapeutics: Emerging considerations.

Pediatric Pulmonology

Joshi, Disha D; Ehrhardt, Annette A; Hong, Jeong S JS; Sorscher, Eric J EJ

Publication Date: 2019-11

Variant appearance in text: CFTR: R1070Q

PubMed Link: 31715091

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: CFTR: 3209G>A; Arg1070Gln

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s001.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: CFTR: 3209G>A; R1070Q

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Molecular Genetics & Genomic Medicine

Petrova, Guergana G; Yaneva, Nadezhda N; Hrbková, Jana J; Libik, Malgorzata M; Savov, Alexey A; Macek, Milan M

Publication Date: 2019-08

Variant appearance in text: CFTR: 3209G>A; R1070Q

PubMed Link: 31245908

Variant Present in the following documents:

• Main text

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: 3209G>A; Arg1070Gln

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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: 3209G>A; R1070Q

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Scientific Reports

Pereira, Stéphanie Villa-Nova SV; Ribeiro, José Dirceu JD; Ribeiro, Antônio Fernando AF; Bertuzzo, Carmen Sílvia CS; Marson, Fernando Augusto Lima FAL

Publication Date: 2019-04-17

Variant appearance in text: CFTR: 3209G>A; R1070Q; rs78769542

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: CFTR: 3209G>A; Arg1070Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.

Frontiers In Pharmacology

Hočevar, Keli K; Maver, Aleš A; Peterlin, Borut B

Publication Date: 2019

Variant appearance in text: CFTR: 3209G>A; Arg1070Gln

PubMed Link: 30930780

Variant Present in the following documents:

• Main text

View BVdb publication page

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Emerging Therapeutic Approaches for Cystic Fibrosis. From Gene Editing to Personalized Medicine.

Frontiers In Pharmacology

Pranke, Iwona I; Golec, Anita A; Hinzpeter, Alexandre A; Edelman, Aleksander A; Sermet-Gaudelus, Isabelle I

Publication Date: 2019

Variant appearance in text: CFTR: R1070Q

PubMed Link: 30873022

Variant Present in the following documents:

• Main text
• fphar-10-00121.pdf

View BVdb publication page

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ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

Journal Of Personalized Medicine

López-Fernández, Luis A LA

Publication Date: 2018-12-05

Variant appearance in text: CFTR: Arg1070Gln; rs78769542

PubMed Link: 30563187

Variant Present in the following documents:

• Main text
• jpm-08-00040.pdf

View BVdb publication page

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Pharmacogenetic testing in the Veterans Health Administration (VHA): policy recommendations from the VHA Clinical Pharmacogenetics Subcommittee.

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

Vassy, Jason L JL; Stone, Annjanette A; Callaghan, John T JT; Mendes, Margaret M; Meyer, Laurence J LJ; Pratt, Victoria M VM; Przygodzki, Ronald M RM; Scheuner, Maren T MT; Wang-Rodriguez, Jessica J; Schichman, Steven A SA; ,

Publication Date: 2019-02

Variant appearance in text: CFTR: R1070Q

PubMed Link: 29858578

Variant Present in the following documents:

• NIHMS965181-supplement-Sup_file.xlsx, sheet 10

View BVdb publication page

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Cystic Fibrosis: Translating Molecular Mechanisms into Effective Therapies.

Annals Of The American Thoracic Society

Jennings, Mark T MT; Flume, Patrick A PA

Publication Date: 2018-08

Variant appearance in text: CFTR: R1070Q

PubMed Link: 29812963

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.

Bmc Medical Genomics

Ivanov, Maxim M; Matsvay, Alina A; Glazova, Olga O; Krasovskiy, Stanislav S; Usacheva, Mariya M; Amelina, Elena E; Chernyak, Aleksandr A; Ivanov, Mikhail M; Musienko, Sergey S; Prodanov, Timofey T; Kovalenko, Sergey S; Baranova, Ancha A; Khafizov, Kamil K

Publication Date: 2018-02-13

Variant appearance in text: CFTR: 3209G>A; Arg1070Gln

PubMed Link: 29504914

Variant Present in the following documents:

• Main text

View BVdb publication page

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Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.

Bmc Medical Genetics

He, Wen-Bin WB; Tan, Yue-Qiu YQ; Hu, Xiao X; Li, Wen W; Xiong, Bo B; Luo, Ke-Li KL; Gong, Fei F; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J

Publication Date: 2018-01-24

Variant appearance in text: CFTR: 3209G>A; Arg1070Gln

PubMed Link: 29368589

Variant Present in the following documents:

• Main text
• 12881_2018_Article_525.pdf

View BVdb publication page

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Germline genetic variants with implications for disease risk and therapeutic outcomes.

Physiological Genomics

Pasternak, Amy L AL; Ward, Kristen M KM; Luzum, Jasmine A JA; Ellingrod, Vicki L VL; Hertz, Daniel L DL

Publication Date: 2017-10-01

Variant appearance in text: CFTR: R1070Q

PubMed Link: 28887371

Variant Present in the following documents:

• Main text

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: 3209G>A; Arg1070Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Molecular Genetics & Genomic Medicine

Behar, Doron M DM; Inbar, Ori O; Shteinberg, Michal M; Gur, Michal M; Mussaffi, Huda H; Shoseyov, David D; Ashkenazi, Moshe M; Alkrinawi, Soliman S; Bormans, Concetta C; Hakim, Fahed F; Mei-Zahav, Meir M; Cohen-Cymberknoh, Malena M; Dagan, Adi A; Prais, Dario D; Sarouk, Ifat I; Stafler, Patrick P; Bar Aluma, Bat El BE; Akler, Gidon G; Picard, Elie E; Aviram, Micha M; Efrati, Ori O; Livnat, Galit G; Rivlin, Joseph J; Bentur, Lea L; Blau, Hannah H; Kerem, Eitan E; Singer, Amihood A

Publication Date: 2017-05

Variant appearance in text: CFTR: 3209G>A; Arg1070Gln

PubMed Link: 28546993

Variant Present in the following documents:

• Main text

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Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.

Pancreas

Palermo, Joseph J JJ; Lin, Tom K TK; Hornung, Lindsey L; Valencia, C Alexander CA; Mathur, Abhinav A; Jackson, Kimberly K; Fei, Lin L; Abu-El-Haija, Maisam M

Publication Date: 2016-10

Variant appearance in text: CFTR: R1070Q

PubMed Link: 27171515

Variant Present in the following documents:

• Main text

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Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.

Plos One

Pagin, Adrien A; Devos, Aurore A; Figeac, Martin M; Truant, Maryse M; Willoquaux, Christelle C; Broly, Franck F; Lalau, Guy G

Publication Date: 2016

Variant appearance in text: CFTR: 3209G>A; R1070Q

PubMed Link: 26900683

Variant Present in the following documents:

• Main text

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From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

Molecular Biology Of The Cell

Veit, Gudio G; Avramescu, Radu G RG; Chiang, Annette N AN; Houck, Scott A SA; Cai, Zhiwei Z; Peters, Kathryn W KW; Hong, Jeong S JS; Pollard, Harvey B HB; Guggino, William B WB; Balch, William E WE; Skach, William R WR; Cutting, Garry R GR; Frizzell, Raymond A RA; Sheppard, David N DN; Cyr, Douglas M DM; Sorscher, Eric J EJ; Brodsky, Jeffrey L JL; Lukacs, Gergely L GL

Publication Date: 2016-02-01

Variant appearance in text: CFTR: R1070Q

PubMed Link: 26823392

Variant Present in the following documents:

• Main text
• 424.pdf

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An Unusual Presentation of Pediatric Autoimmune Pancreatitis.

Pancreas

Galloway, David P DP; Wallihan, Daniel D; Smith, Milton T MT; Abu-El-Haija, Maisam M

Publication Date: 2016-02

Variant appearance in text: CFTR: 3209G>A; R1070Q

PubMed Link: 26752256

Variant Present in the following documents:

• Main text

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Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Molecular Genetics & Genomic Medicine

Trujillano, Daniel D; Weiss, Maximilian E R ME; Köster, Julia J; Papachristos, Efstathios B EB; Werber, Martin M; Kandaswamy, Krishna Kumar KK; Marais, Anett A; Eichler, Sabrina S; Creed, Jenny J; Baysal, Erol E; Jaber, Iqbal Yousuf IY; Mehaney, Dina Ahmed DA; Farra, Chantal C; Rolfs, Arndt A

Publication Date: 2015-09

Variant appearance in text: CFTR: 3209G>A; R1070Q; rs78769542

PubMed Link: 26436105

Variant Present in the following documents:

• Main text

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