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: 2052dupA; Gln685Thrfs

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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Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.

Diagnostics (Basel, Switzerland)

Auzenbaha, Madara M; Aleksejeva, Elina E; Taurina, Gita G; Kornejeva, Liene L; Kempa, Inga I; Svabe, Vija V; Gailite, Linda L

Publication Date: 2022-11-21

Variant appearance in text: CFTR: 2052dupA

PubMed Link: 36428953

Variant Present in the following documents:

• diagnostics-12-02893.pdf

View BVdb publication page

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Screening by high-throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies.

Journal Of Cellular And Molecular Medicine

de Melo, Ana Cristina Vieira ACV; de Souza, Karla Simone Costa KSC; da Silva, Heglayne Pereira Vital HPV; Maia, Jussara Melo de Cerqueira JMC; Dantas, Vera Maria VM; Bezerra, João Felipe JF; de Rezende, Adriana Augusto AA

Publication Date: 2022-12

Variant appearance in text: CFTR: 2052_2053insA

PubMed Link: 36369753

Variant Present in the following documents:

• Main text
• JCMM-26-5943.pdf

View BVdb publication page

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Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].

Current Issues In Molecular Biology

Kondratyeva, Elena E; Bulatenko, Nataliya N; Melyanovskaya, Yuliya Y; Efremova, Anna A; Zhekaite, Elena E; Sherman, Viktoriya V; Voronkova, Anna A; Asherova, Irina I; Polyakov, Alexander A; Adyan, Tagui T; Kovalskaia, Valeriia V; Bukharova, Tatiana T; Goldshtein, Dmitry D; Kutsev, Sergey S

Publication Date: 2022-10-21

Variant appearance in text: CFTR: 2052dupA

PubMed Link: 36286063

Variant Present in the following documents:

• Main text
• cimb-44-00349.pdf

View BVdb publication page

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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: 2052dupA; Gln685ThrfsX4

PubMed Link: 35858753

Variant Present in the following documents:

• jmg-2022-108501supp001.pdf

View BVdb publication page

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A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Clinical And Translational Medicine

Jian, Min M; Wang, Xiaohong X; Sui, Yuanyuan Y; Fang, Mingyan M; Feng, Chenchen C; Huang, Yingping Y; Liu, Chunhua C; Guo, Ruidong R; Guan, Yuanning Y; Gao, Yuxiao Y; Wang, Zhiwei Z; Li, Shuli S; Cheng, Bochen B; Sun, Lina L; Cui, Fenghua F; Guo, Jia J; Zhan, Ying Y; Zhang, Guohong G; Zheng, Ling L; Su, Fengxia F; Xue, Wei W; Qian, Puyi P; Gao, Shaobo S; Chen, Jiayu J; Guan, Lingyao L; Lu, Haorong H; Kristiansen, Karsten K; Jin, Xin X; Chen, Fang F; Zhao, Yuhuan Y; Hammarström, Lennart L; Jiang, Xiaojing X; Liu, Junnian J; Gao, Ya Y

Publication Date: 2022-06

Variant appearance in text: CFTR: 2052_2053insA

PubMed Link: 35665479

Variant Present in the following documents:

• CTM2-12-e843-s002.xlsx, sheet 6
• CTM2-12-e843-s002.xlsx, sheet 10

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: 2045_2046insA; Q685fs

PubMed Link: 35313924

Variant Present in the following documents:

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

View BVdb publication page

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Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis.

Genetics And Molecular Biology

Lima, Eliandra da Silveira EDS; Pezzin, Luíse Sgarabotto LS; Fensterseifer, Ana Carolina AC; Pinto, Leonardo Araújo LA

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34874053

Variant Present in the following documents:

View BVdb publication page

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Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis.

Genetics And Molecular Biology

Lima, Eliandra da Silveira EDS; Pezzin, Luíse Sgarabotto LS; Fensterseifer, Ana Carolina AC; Pinto, Leonardo Araújo LA

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34874053

Variant Present in the following documents:

View BVdb publication page

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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: 2052dupA

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

View BVdb publication page

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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: 2052dupA

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

View BVdb publication page

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Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation.

Frontiers In Genetics

Petrova, Nika N; Balinova, Natalia N; Marakhonov, Andrey A; Vasilyeva, Tatyana T; Kashirskaya, Nataliya N; Galkina, Varvara V; Ginter, Evgeniy E; Kutsev, Sergey S; Zinchenko, Rena R

Publication Date: 2021

Variant appearance in text: CFTR: 2052_2053insA; Gln685ThrfsX4

PubMed Link: 34220950

Variant Present in the following documents:

• Main text
• fgene-12-678374.pdf

View BVdb publication page

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Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Archives Of Disease In Childhood

Dai, Dan D; Mei, Mei M; Hu, Liyuan L; Cao, Yun Y; Wang, Xiaochuan X; Wang, Libo L; Lu, Yulan Y; Yang, Lin L; Dong, Xinran X; Wang, Huijun H; Wu, Bingbing B; Qian, Liling L

Publication Date: 2022-02

Variant appearance in text: CFTR: Q685Tfs*4

PubMed Link: 34134972

Variant Present in the following documents:

• archdischild-2021-322058supp001.pdf

View BVdb publication page

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DNA Methylation at ATP11A cg11702988 Is a Biomarker of Lung Disease Severity in Cystic Fibrosis: A Longitudinal Study.

Genes

Pineau, Fanny F; Caimmi, Davide D; Taviaux, Sylvie S; Reveil, Maurane M; Brosseau, Laura L; Rivals, Isabelle I; Drevait, Margot M; Vachier, Isabelle I; Claustres, Mireille M; Chiron, Raphaël R; De Sario, Albertina A

Publication Date: 2021-03-19

Variant appearance in text: CFTR: Gln685Thrfs*4

PubMed Link: 33808877

Variant Present in the following documents:

• Main text
• genes-12-00441.pdf

View BVdb publication page

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Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT.

International Journal Of Neonatal Screening

Sadik, Ilham I; Pérez de Algaba, Inmaculada I; Jiménez, Rocío R; Benito, Carmen C; Blasco-Alonso, Javier J; Caro, Pilar P; Navas-López, Víctor M VM; Pérez-Frías, Javier J; Pérez, Estela E; Serrano, Juliana J; Yahyaoui, Raquel R

Publication Date: 2019-09

Variant appearance in text: CFTR: Gln685Thrfs

PubMed Link: 33072991

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.

Genes

Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Krasovskiy, Stanislav A SA; Amelina, Elena L EL; Kondratyeva, Elena I EI; Marakhonov, Andrey V AV; Vasilyeva, Tatyana A TA; Voronkova, Anna Y AY; Sherman, Victoria D VD; Ginter, Evgeny K EK; Kutsev, Sergey I SI; Zinchenko, Rena A RA

Publication Date: 2020-09-27

Variant appearance in text: CFTR: 2052_2053insA; Gln685ThrfsX4

PubMed Link: 32992607

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine

Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2020-09-22

Variant appearance in text: CFTR: 2052dup; Gln685fs

PubMed Link: 32971794

Variant Present in the following documents:

• jpm-10-00140-s001.pdf

View BVdb publication page

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Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes

Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA

Publication Date: 2020-05-15

Variant appearance in text: CFTR: 2052_2053insA

PubMed Link: 32429104

Variant Present in the following documents:

• Main text
• genes-11-00554.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: CFTR: 2052dupA

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 7
• 41467_2020_16067_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.

Bmc Pediatrics

Lascano-Vaca, Yazmina Y; Ortiz-Prado, Esteban E; Gomez-Barreno, Lenin L; Simbaña-Rivera, Katherine K; Vasconez, Eduardo E; Lister, Alexander A; Arteaga-Espinosa, María Emilia ME; Perez, Geovanny F GF

Publication Date: 2020-03-06

Variant appearance in text: CFTR: 2052dupA; Gln685Thrfs

PubMed Link: 32143663

Variant Present in the following documents:

• Main text
• 12887_2020_Article_2013.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: CFTR: 2052dupA; Gln685fs

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.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: 2052_2053insA; Gln685Thrfs*4

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: 2045_2046insA

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: 2052_2053insA

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: 2052dupA

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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Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

Bmc Medical Genetics

Petrova, N V NV; Kashirskaya, N Y NY; Saydaeva, D K DK; Polyakov, A V AV; Adyan, T A TA; Simonova, O I OI; Gorinova, Y V YV; Kondratyeva, E I EI; Sherman, V D VD; Novoselova, O G OG; Vasilyeva, T A TA; Marakhonov, A V AV; Macek, M M; Ginter, E K EK; Zinchenko, R A RA

Publication Date: 2019-03-21

Variant appearance in text: CFTR: 2052_2053insA; Gln685ThrfsX4

PubMed Link: 30898088

Variant Present in the following documents:

• Main text
• 12881_2019_Article_785.pdf

View BVdb publication page

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: CFTR: 2045_2046insA; Gln685fs

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 18

View BVdb publication page

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Long-Term In Vitro Expansion of Epithelial Stem Cells Enabled by Pharmacological Inhibition of PAK1-ROCK-Myosin II and TGF-β Signaling.

Cell Reports

Zhang, Chengkang C; Lee, Hyung Joo HJ; Shrivastava, Anura A; Wang, Ruipeng R; McQuiston, Travis J TJ; Challberg, Sharon S SS; Pollok, Brian A BA; Wang, Ting T

Publication Date: 2018-10-16

Variant appearance in text: CFTR: Q685TfsX4

PubMed Link: 30332641

Variant Present in the following documents:

• Main text
• nihms-1510941.pdf

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: 2052dupA

PubMed Link: 29504914

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.

Bmc Genomics

Ivády, Gergely G; Madar, László L; Dzsudzsák, Erika E; Koczok, Katalin K; Kappelmayer, János J; Krulisova, Veronika V; Macek, Milan M; Horváth, Attila A; Balogh, István I

Publication Date: 2018-02-21

Variant appearance in text: CFTR: 2052_2053insA

PubMed Link: 29466940

Variant Present in the following documents:

• Main text
• 12864_2018_Article_4544.pdf

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: 2052dupA; Gln685Thrfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genomic diagnosis for children with intellectual disability and/or developmental delay.

Genome Medicine

Bowling, Kevin M KM; Thompson, Michelle L ML; Amaral, Michelle D MD; Finnila, Candice R CR; Hiatt, Susan M SM; Engel, Krysta L KL; Cochran, J Nicholas JN; Brothers, Kyle B KB; East, Kelly M KM; Gray, David E DE; Kelley, Whitley V WV; Lamb, Neil E NE; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Whittle, Jana S JS; Weaver, Benjamin T BT; Nesmith, Amy S AS; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM

Publication Date: 2017-05-30

Variant appearance in text: CFTR: 2052dupA; Gln685Thrfs

PubMed Link: 28554332

Variant Present in the following documents:

• 13073_2017_433_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: 2052dupA; Gln685Thrfs*4

PubMed Link: 28546993

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Journal Of Medical Biochemistry

Ivády, Gergely G; Koczok, Katalin K; Madar, Laszlo L; Gombos, Eva E; Toth, Izabella I; Gyori, Klaudia K; Balogh, István I

Publication Date: 2015-01

Variant appearance in text: CFTR: 2052_2053insA

PubMed Link: 28356823

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.

Journal Of Inborn Errors Of Metabolism And Screening

Hendrix, Miyono M MM; Foster, Stephanie L SL; Cordovado, Suzanne K SK

Publication Date: 2016

Variant appearance in text: CFTR: 2052dupA

PubMed Link: 28261631

Variant Present in the following documents:

• Main text
• nihms822513.pdf

View BVdb publication page

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: CFTR: 2045_2046insA

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

View BVdb publication page

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Poster Session Abstracts.

Pediatric Pulmonology

Publication Date: 2016-10

Variant appearance in text: CFTR: 2052dup

PubMed Link: 27653516

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.

Iranian Biomedical Journal

Mohseni, Marzieh M; Razzaghmanesh, Mohammad M; Parsi Mehr, Elham E; Zare, Hanieh H; Beheshtian, Maryam M; Najmabadi, Hossein H

Publication Date: 2016-09

Variant appearance in text: CFTR: 2052_2053insA

PubMed Link: 27017198

Variant Present in the following documents:

• IBJ-20-201.pdf

View BVdb publication page

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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg

Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M

Publication Date: 2016-04

Variant appearance in text: CFTR: 2052_2053insA; Gln685Thrfs*4

PubMed Link: 26014425

Variant Present in the following documents:

• Main text
• ejhg201599a.pdf

View BVdb publication page

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A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)

Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R

Publication Date: 2015-04-21

Variant appearance in text: CFTR: 2052_2053insA; Gln685ThrfsX4

PubMed Link: 25910067

Variant Present in the following documents:

• Main text

View BVdb publication page

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SNaPshot assay for the detection of the most common CFTR mutations in infertile men.

Plos One

Noveski, Predrag P; Madjunkova, Svetlana S; Mircevska, Marija M; Plaseski, Toso T; Filipovski, Vanja V; Plaseska-Karanfilska, Dijana D

Publication Date: 2014

Variant appearance in text: CFTR: 2052_2053insA

PubMed Link: 25386751

Variant Present in the following documents:

• Main text

View BVdb publication page

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CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Plos One

Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M

Publication Date: 2014

Variant appearance in text: CFTR: 2052_2053insA; Q685TfsX4

PubMed Link: 24586523

Variant Present in the following documents:

• Main text
• pone.0089094.pdf

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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics

Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR

Publication Date: 2013-10

Variant appearance in text: CFTR: 2052_2053insA; Gln685ThrfsX4

PubMed Link: 23974870

Variant Present in the following documents:

• NIHMS512446-supplement-12.xlsx, sheet 1

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Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.

Bmc Genetics

Chin, Ephrem L H EL; da Silva, Cristina C; Hegde, Madhuri M

Publication Date: 2013-02-19

Variant appearance in text: CFTR: 2052_2053insA

PubMed Link: 23418865

Variant Present in the following documents:

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• 1471-2156-14-6.pdf

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The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

The Journal Of Molecular Diagnostics : Jmd

Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A

Publication Date: 2010-09

Variant appearance in text: CFTR: 2052insA

PubMed Link: 20616359

Variant Present in the following documents:

• Main text

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