Publications:

---

The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

International Journal Of Molecular Sciences

Makarova, Maria M; Nemtsova, Marina M; Danishevich, Anastasiia A; Chernevskiy, Denis D; Belenikin, Maxim M; Krinitsina, Anastasiia A; Baranova, Elena E; Sagaydak, Olesya O; Vorontsova, Maria M; Khatkov, Igor I; Zhukova, Lyudmila L; Bodunova, Natalia N; Nikolaev, Sergey S; Byakhova, Mariya M; Semenova, Anna A; Galkin, Vsevolod V; Gadzhieva, Saida S

Publication Date: 2023-04-27

Variant appearance in text: CFTR: 617T>G; Leu206Trp; rs121908752

PubMed Link: 37175647

Variant Present in the following documents:

• ijms-24-07940.pdf

View BVdb publication page

---

Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.

Journal Of Assisted Reproduction And Genetics

Pereira, R R; Carvalho, V V; Dias, C C; Barbosa, T T; Oliveira, J J; Alves, Â Â; Oliveira, E E; Sá, R R; Sousa, M M

Publication Date: 2023-03-01

Variant appearance in text: CFTR: 617T>G

PubMed Link: 36856967

Variant Present in the following documents:

• Main text
• 10815_2023_Article_2755.pdf

View BVdb publication page

---

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: 617T>G; Leu206Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: L206W

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

---

Role of inhaled antibiotics in the era of highly effective CFTR modulators.

European Respiratory Review : An Official Journal Of The European Respiratory Society

Elborn, J Stuart JS; Blasi, Francesco F; Burgel, Pierre-Régis PR; Peckham, Daniel D

Publication Date: 2023-03-31

Variant appearance in text: CFTR: L206W

PubMed Link: 36631132

Variant Present in the following documents:

• Main text
• ERR-0154-2022.pdf

View BVdb publication page

---

Acting on the CFTR Membrane-Spanning Domains Interface Rescues Some Misfolded Mutants.

International Journal Of Molecular Sciences

Baatallah, Nesrine N; Elbahnsi, Ahmad A; Chevalier, Benoit B; Castanier, Solène S; Mornon, Jean-Paul JP; Pranke, Iwona I; Edelman, Aleksander A; Sermet-Gaudelus, Isabelle I; Callebaut, Isabelle I; Hinzpeter, Alexandre A

Publication Date: 2022-12-19

Variant appearance in text: CFTR: L206W

PubMed Link: 36555865

Variant Present in the following documents:

• Main text
• ijms-23-16225.pdf

View BVdb publication page

---

Redefining Hypo- and Hyper-Responding Phenotypes of CFTR Mutants for Understanding and Therapy.

International Journal Of Molecular Sciences

Hillenaar, Tamara T; Beekman, Jeffrey J; van der Sluijs, Peter P; Braakman, Ineke I

Publication Date: 2022-12-02

Variant appearance in text: CFTR: L206W

PubMed Link: 36499495

Variant Present in the following documents:

• Main text
• ijms-23-15170.pdf

View BVdb publication page

---

Cystic fibrosis and jejunoileal atresia: A clinical case.

Clinical Case Reports

da Cunha, Sara Bernardes SB; Rasteiro, Cátia C; Silva, Manuela M; Dias, Mariana M; Araújo, Célia C; Ramalho, Carla C

Publication Date: 2022-08

Variant appearance in text: CFTR: L206W

PubMed Link: 35949411

Variant Present in the following documents:

• Main text
• CCR3-10-e05869.pdf

View BVdb publication page

---

Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.

Orphanet Journal Of Rare Diseases

Rueda-Nieto, Senay S; Mondejar-Lopez, Pedro P; Mira-Escolano, María-Pilar MP; Cutillas-Tolín, Ana A; Maceda-Roldán, Luis Alberto LA; Arense-Gonzalo, Julián Jesús JJ; Palomar-Rodríguez, Joaquín A JA

Publication Date: 2022-06-13

Variant appearance in text: CFTR: Leu206Trp

PubMed Link: 35698092

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2373.pdf

View BVdb publication page

---

CFTR Modulators in People with Cystic Fibrosis: Real-World Evidence in France.

Cells

Regard, Lucile L; Martin, Clémence C; Burnet, Espérie E; Da Silva, Jennifer J; Burgel, Pierre-Régis PR

Publication Date: 2022-05-28

Variant appearance in text: CFTR: L206W

PubMed Link: 35681464

Variant Present in the following documents:

• cells-11-01769.pdf

View BVdb publication page

---

Accounting for population structure in genetic studies of cystic fibrosis.

Hgg Advances

Kingston, Hanley H; Stilp, Adrienne M AM; Gordon, William W; Broome, Jai J; Gogarten, Stephanie M SM; Ling, Hua H; Barnard, John J; Dugan-Perez, Shannon S; Ellinor, Patrick T PT; Gabriel, Stacey S; Germer, Soren S; Gibbs, Richard A RA; Gupta, Namrata N; Rice, Kenneth K; Smith, Albert V AV; Zody, Michael C MC; , ; , ; Blackman, Scott M SM; Cutting, Garry G; Knowles, Michael R MR; Zhou, Yi-Hui YH; Rosenfeld, Margaret M; Gibson, Ronald L RL; Bamshad, Michael M; Fohner, Alison A; Blue, Elizabeth E EE

Publication Date: 2022-07-14

Variant appearance in text: CFTR: L206W

PubMed Link: 35647563

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

---

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: L206W

PubMed Link: 35585144

Variant Present in the following documents:

• 42003_2022_3457_MOESM1_ESM.pdf

View BVdb publication page

---

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: L206W

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

View BVdb publication page

---

Distinct proteostasis states drive pharmacologic chaperone susceptibility for cystic fibrosis transmembrane conductance regulator misfolding mutants.

Molecular Biology Of The Cell

McDonald, Eli Fritz EF; Sabusap, Carleen Mae P CMP; Kim, Minsoo M; Plate, Lars L

Publication Date: 2022-06-01

Variant appearance in text: CFTR: L206W

PubMed Link: 35389766

Variant Present in the following documents:

• mbc-33-ar62-s006.xlsx, sheet 1

View BVdb publication page

---

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: 617T>G; L206W

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

View BVdb publication page

---

Targeting the E1 ubiquitin-activating enzyme (UBA1) improves elexacaftor/tezacaftor/ivacaftor efficacy towards F508del and rare misfolded CFTR mutants.

Cellular And Molecular Life Sciences : Cmls

Borgo, Christian C; D'Amore, Claudio C; Capurro, Valeria V; Tomati, Valeria V; Sondo, Elvira E; Cresta, Federico F; Castellani, Carlo C; Pedemonte, Nicoletta N; Salvi, Mauro M

Publication Date: 2022-03-16

Variant appearance in text: CFTR: L206W

PubMed Link: 35292885

Variant Present in the following documents:

• Main text
• 18_2022_Article_4215.pdf

View BVdb publication page

---

Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.

Nature Communications

Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M

Publication Date: 2022-03-04

Variant appearance in text: CFTR: L206W; rs121908752

PubMed Link: 35246524

Variant Present in the following documents:

• 41467_2022_28648_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Progress in precision medicine in cystic fibrosis: a focus on CFTR modulator therapy.

Breathe (Sheffield, England)

Tewkesbury, Daniel H DH; Robey, Rebecca C RC; Barry, Peter J PJ

Publication Date: 2021-12

Variant appearance in text: CFTR: L206W

PubMed Link: 35035569

Variant Present in the following documents:

• Main text
• EDU-0112-2021.pdf

View BVdb publication page

---

Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells

Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD

Publication Date: 2022-01-01

Variant appearance in text: CFTR: L206W

PubMed Link: 35011698

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells

Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD

Publication Date: 2022-01-01

Variant appearance in text: CFTR: L206W

PubMed Link: 35011698

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Revisiting CFTR Interactions: Old Partners and New Players.

International Journal Of Molecular Sciences

Farinha, Carlos M CM; Gentzsch, Martina M

Publication Date: 2021-12-07

Variant appearance in text: CFTR: L206W

PubMed Link: 34947992

Variant Present in the following documents:

• Main text
• ijms-22-13196.pdf

View BVdb publication page

---

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: CFTR: L206W

PubMed Link: 34874053

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: CFTR: L206W

PubMed Link: 34874053

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A Comparative Analysis of Pricing and Reimbursement of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Europe.

Frontiers In Pharmacology

Abdallah, Khadidja K; De Boeck, Kris K; Dooms, Marc M; Simoens, Steven S

Publication Date: 2021

Variant appearance in text: CFTR: L206W

PubMed Link: 34858177

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.

International Journal Of Neonatal Screening

Sicko, Robert J RJ; Stevens, Colleen F CF; Hughes, Erin E EE; Leisner, Melissa M; Ling, Helen H; Saavedra-Matiz, Carlos A CA; Caggana, Michele M; Kay, Denise M DM

Publication Date: 2021-11-02

Variant appearance in text: CFTR: 617T>G; L206W

PubMed Link: 34842611

Variant Present in the following documents:

• Main text
• IJNS-07-00073.pdf

View BVdb publication page

---

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: rs121908752

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

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: L206W

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.pdf

View BVdb publication page

---

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: rs121908752

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

---

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: CFTR: L206W

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.

Erj Open Research

Zampoli, Marco M; Verstraete, Janine J; Frauendorf, Marlize M; Kassanjee, Reshma R; Workman, Lesley L; Morrow, Brenda M BM; Zar, Heather J HJ

Publication Date: 2021-07

Variant appearance in text: CFTR: 617T>G; Leu206Trp

PubMed Link: 34350279

Variant Present in the following documents:

• 00856-2020.supplement.pdf

View BVdb publication page

---

New Therapies to Correct the Cystic Fibrosis Basic Defect.

International Journal Of Molecular Sciences

Bergeron, Christelle C; Cantin, André M AM

Publication Date: 2021-06-08

Variant appearance in text: CFTR: L206W

PubMed Link: 34201249

Variant Present in the following documents:

• Main text
• ijms-22-06193.pdf

View BVdb publication page

---

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Human Mutation

Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S

Publication Date: 2021-09

Variant appearance in text: CFTR: 617T>G; Leu206Trp

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

View BVdb publication page

---

Tensin 1 (TNS1) is a modifier gene for low body mass index (BMI) in homozygous [F508del]CFTR patients.

Physiological Reports

Walton, Nathan I NI; Zhang, Xijun X; Soltis, Anthony R AR; Starr, Joshua J; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Conrad, Douglas D; Pollard, Harvey B HB

Publication Date: 2021-06

Variant appearance in text: CFTR: L206W

PubMed Link: 34086412

Variant Present in the following documents:

• PHY2-9-e14886-s002.pdf

View BVdb publication page

---

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: 617T>G; Leu206Trp; rs121908752

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.

Antibiotics (Basel, Switzerland)

Girón Moreno, Rosa María RM; García-Clemente, Marta M; Diab-Cáceres, Layla L; Martínez-Vergara, Adrián A; Martínez-García, Miguel Ángel MÁ; Gómez-Punter, Rosa Mar RM

Publication Date: 2021-04-23

Variant appearance in text: CFTR: L206W

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Disease Markers

Cambraia, Amanda A; Junior, Mario Campos MC; Zembrzuski, Verônica Marques VM; Junqueira, Ricardo Magrani RM; Cabello, Pedro Hernán PH; de Cabello, Giselda Maria Kalil GMK

Publication Date: 2021

Variant appearance in text: CFTR: 617T>G; Leu206Trp; rs121908752

PubMed Link: 33613790

Variant Present in the following documents:

• Main text
• DM2021-9812074.pdf

View BVdb publication page

---

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: 617T>G; rs121908752

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

---

Novel therapeutic approaches for the management of cystic fibrosis.

Multidisciplinary Respiratory Medicine

Jaques, Ryan R; Shakeel, Arslan A; Hoyle, Cameron C

Publication Date: 2020-01-28

Variant appearance in text: CFTR: L206W

PubMed Link: 33282281

Variant Present in the following documents:

• Main text
• mrm-15-1-690.pdf

View BVdb publication page

---

Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: CFTR: 617T>G; Leu206Trp; rs121908752

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

International Journal Of Neonatal Screening

Sinclair, Graham G; McMahon, Vanessa V; Schellenberg, Amy A; Nelson, Tanya N TN; Chilvers, Mark M; Vallance, Hilary H

Publication Date: 2020-06

Variant appearance in text: CFTR: L206W

PubMed Link: 33073036

Variant Present in the following documents:

• IJNS-06-00046-s001.xlsx, sheet 1

View BVdb publication page

---

Processing Newborn Bloodspot Screening Results for CF.

International Journal Of Neonatal Screening

Barben, Jürg J; Chudleigh, Jane J

Publication Date: 2020-06

Variant appearance in text: CFTR: L206W

PubMed Link: 33073022

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Leu206Trp

PubMed Link: 33072991

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L206W

PubMed Link: 32934006

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy.

Diagnostics (Basel, Switzerland)

Taccetti, Giovanni G; Botti, Matteo M; Terlizzi, Vito V; Cavicchi, Maria Chiara MC; Neri, Anna Silvia AS; Galici, Valeria V; Mergni, Gianfranco G; Centrone, Claudia C; Peroni, Diego G DG; Festini, Filippo F

Publication Date: 2020-07-01

Variant appearance in text: CFTR: L206W

PubMed Link: 32630227

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.

Genes

Bienvenu, Thierry T; Lopez, Maureen M; Girodon, Emmanuelle E

Publication Date: 2020-06-04

Variant appearance in text: CFTR: 617T>G; L206W

PubMed Link: 32512765

Variant Present in the following documents:

• Main text
• genes-11-00619.pdf

View BVdb publication page

---

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: L206W

PubMed Link: 32414011

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 617T>G; L206W

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

---

The true panel of cystic fibrosis mutations in the Sicilian population.

Bmc Medical Genetics

Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Fichera, Michele M; Venti, Ermanno E; Guglielmino, Antonino A

Publication Date: 2020-05-01

Variant appearance in text: CFTR: L206W

PubMed Link: 32357917

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Functional and Pharmacological Characterization of the Rare CFTR Mutation W361R.

Frontiers In Pharmacology

Billet, Arnaud A; Elbahnsi, Ahmad A; Jollivet-Souchet, Mathilde M; Hoffmann, Brice B; Mornon, Jean-Paul JP; Callebaut, Isabelle I; Becq, Frédéric F

Publication Date: 2020

Variant appearance in text: CFTR: L206W

PubMed Link: 32256364

Variant Present in the following documents:

• Main text
• fphar-11-00295.pdf

View BVdb publication page

---

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: L206W

PubMed Link: 32168995

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L206W

PubMed Link: 32130336

Variant Present in the following documents:

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

View BVdb publication page

---