Publications:

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The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review.

Journal Of Clinical Medicine

Koumpagioti, Despoina D; Moriki, Dafni D; Boutopoulou, Barbara B; Matziou, Vasiliki V; Loukou, Ioanna I; Priftis, Kostas N KN; Douros, Konstantinos K

Publication Date: 2023-03-21

Variant appearance in text: CFTR: G576A

PubMed Link: 36983403

Variant Present in the following documents:

• Main text
• jcm-12-02403.pdf

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: CFTR: G576A

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.

Molecular Medicine (Cambridge, Mass.)

Tavano, Francesca F; Gioffreda, Domenica D; Fontana, Andrea A; Palmieri, Orazio O; Gentile, Annamaria A; Latiano, Tiziana T; Latiano, Anna A; Latiano, Tiziana Pia TP; Scaramuzzi, Matteo M; Maiello, Evaristo E; Bazzocchi, Francesca F; Perri, Francesco F

Publication Date: 2023-01-30

Variant appearance in text: CFTR: 1727G>C; Gly576Ala

PubMed Link: 36717774

Variant Present in the following documents:

• 10020_2023_600_MOESM1_ESM.xlsx, sheet 1

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: G576A

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

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Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.

Cells

Baldassarri, Margherita M; Zguro, Kristina K; Tomati, Valeria V; Pastorino, Cristina C; Fava, Francesca F; Croci, Susanna S; Bruttini, Mirella M; Picchiotti, Nicola N; Furini, Simone S; Gen-Covid Multicenter Study, ; Pedemonte, Nicoletta N; Gabbi, Chiara C; Renieri, Alessandra A; Fallerini, Chiara C

Publication Date: 2022-12-16

Variant appearance in text: CFTR: G576A

PubMed Link: 36552859

Variant Present in the following documents:

• Main text
• cells-11-04096.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: CFTR: G576A; rs1800098

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Advances

Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q

Publication Date: 2022-09-27

Variant appearance in text: CFTR: G576A

PubMed Link: 35687490

Variant Present in the following documents:

• advancesADV2021006654-suppl4.xlsx, sheet 6
• advancesADV2021006654-suppl12.xlsx, sheet 1

View BVdb publication page

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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: 2022-04-13

Variant appearance in text: CFTR: G576A

PubMed Link: 35418593

Variant Present in the following documents:

• 42003_2022_Article_3302.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CFTR: G576A; rs1800098

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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: rs1800098

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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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: rs1800098

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells.

The European Respiratory Journal

Sette, Giovanni G; Lo Cicero, Stefania S; Blaconà, Giovanna G; Pierandrei, Silvia S; Bruno, Sabina Maria SM; Salvati, Valentina V; Castelli, Germana G; Falchi, Mario M; Fabrizzi, Benedetta B; Cimino, Giuseppe G; De Maria, Ruggero R; Biffoni, Mauro M; Eramo, Adriana A; Lucarelli, Marco M

Publication Date: 2021-12

Variant appearance in text: CFTR: Gly576Ala

PubMed Link: 34413153

Variant Present in the following documents:

• Main text
• ERJ-00908-2021.pdf

View BVdb publication page

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Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells.

The European Respiratory Journal

Sette, Giovanni G; Lo Cicero, Stefania S; Blaconà, Giovanna G; Pierandrei, Silvia S; Bruno, Sabina Maria SM; Salvati, Valentina V; Castelli, Germana G; Falchi, Mario M; Fabrizzi, Benedetta B; Cimino, Giuseppe G; De Maria, Ruggero R; Biffoni, Mauro M; Eramo, Adriana A; Lucarelli, Marco M

Publication Date: 2021-12

Variant appearance in text: CFTR: Gly576Ala

PubMed Link: 34413153

Variant Present in the following documents:

• Main text
• ERJ-00908-2021.pdf

View BVdb publication page

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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: 1727G>C; G576A

PubMed Link: 34350279

Variant Present in the following documents:

• 00856-2020.supplement.pdf

View BVdb publication page

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Association of the CFTR gene with asthma and airway mucus hypersecretion.

Plos One

Crespo-Lessmann, Astrid A; Bernal, Sara S; Del Río, Elisabeth E; Rojas, Ester E; Martínez-Rivera, Carlos C; Marina, Nuria N; Pallarés-Sanmartín, Abel A; Pascual, Silvia S; García-Rivero, Juan Luis JL; Padilla-Galo, Alicia A; Curto, Elena E; Cisneros, Carolina C; Serrano, José J; Baiget, Montserrat M; Plaza, Vicente V; ,

Publication Date: 2021

Variant appearance in text: CFTR: 1727G>C; Gly576Ala

PubMed Link: 34086689

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G576A

PubMed Link: 34086412

Variant Present in the following documents:

• PHY2-9-e14886-s002.pdf

View BVdb publication page

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Potential of Intestinal Current Measurement for Personalized Treatment of Patients with Cystic Fibrosis.

Journal Of Personalized Medicine

Graeber, Simon Y SY; Vitzthum, Constanze C; Mall, Marcus A MA

Publication Date: 2021-05-08

Variant appearance in text: CFTR: G576A

PubMed Link: 34066648

Variant Present in the following documents:

• Main text
• jpm-11-00384.pdf

View BVdb publication page

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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: G576A

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology

Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R

Publication Date: 2021

Variant appearance in text: CFTR: 1727G>C

PubMed Link: 33747920

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 6

View BVdb publication page

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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: 1727G>C; Gly576Ala; rs1800098

PubMed Link: 33613790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes

Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A

Publication Date: 2021-01-31

Variant appearance in text: CFTR: G576A

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

View BVdb publication page

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Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract.

Diagnostics (Basel, Switzerland)

Sterrantino, Manuela M; Fuso, Andrea A; Pierandrei, Silvia S; Bruno, Sabina Maria SM; Testino, Giancarlo G; Cimino, Giuseppe G; Angeloni, Antonio A; Lucarelli, Marco M

Publication Date: 2021-01-25

Variant appearance in text: CFTR: 1727G>C; Gly576Ala

PubMed Link: 33504063

Variant Present in the following documents:

• Main text
• diagnostics-11-00168.pdf

View BVdb publication page

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Extensive CFTR Gene Analysis Revealed a Higher Occurrence of Cystic Fibrosis Transmembrane Regulator-Related Disorders (CFTR-RD) among CF Carriers.

Journal Of Clinical Medicine

Esposito, Maria Valeria MV; Aveta, Achille A; Comegna, Marika M; Cernera, Gustavo G; Iacotucci, Paola P; Carnovale, Vincenzo V; Taccetti, Giovanni G; Terlizzi, Vito V; Castaldo, Giuseppe G

Publication Date: 2020-11-27

Variant appearance in text: CFTR: G576A

PubMed Link: 33260873

Variant Present in the following documents:

• Main text
• jcm-09-03853.pdf

View BVdb publication page

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Liposomes Loaded With Phosphatidylinositol 5-Phosphate Improve the Antimicrobial Response to Pseudomonas aeruginosa in Impaired Macrophages From Cystic Fibrosis Patients and Limit Airway Inflammatory Response.

Frontiers In Immunology

Poerio, Noemi N; De Santis, Federica F; Rossi, Alice A; Ranucci, Serena S; De Fino, Ida I; Henriquez, Ana A; D'Andrea, Marco M MM; Ciciriello, Fabiana F; Lucidi, Vincenzina V; Nisini, Roberto R; Bragonzi, Alessandra A; Fraziano, Maurizio M

Publication Date: 2020

Variant appearance in text: CFTR: G576A

PubMed Link: 33117337

Variant Present in the following documents:

• Main text

View BVdb publication page

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The histopathology of SPINK1-associated chronic pancreatitis.

Pancreatology : Official Journal Of The International Association Of Pancreatology (Iap) ... [Et Al.]

Jones, Terrell E TE; Bellin, Melena D MD; Yadav, Dhiraj D; Freeman, Martin L ML; Schwarzenberg, Sarah J SJ; Slivka, Adam A; Chennat, Jennifer S JS; Beilman, Gregory J GJ; Chinnakotla, Srinath S; Pruett, Timothy L TL; Kirchner, Varvara V; Humar, Abhinav A; Wijkstrom, Martin M; Zureikat, Amer H AH; Nikiforova, Marina N MN; Wald, Abigail I AI; Whitcomb, David C DC; Singhi, Aatur D AD

Publication Date: 2020-12

Variant appearance in text: CFTR: G576A

PubMed Link: 33097431

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1727G>C; Gly576Ala; rs1800098

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.

International Journal Of Neonatal Screening

Marcão, Ana A; Barreto, Celeste C; Pereira, Luísa L; Vaz, Luísa Guedes LG; Cavaco, José J; Casimiro, Ana A; Félix, Miguel M; Silva, Teresa Reis TR; Barbosa, Telma T; Freitas, Cristina C; Nunes, Sidónia S; Felício, Verónica V; Lopes, Lurdes L; Amaral, Margarida M; Vilarinho, Laura L

Publication Date: 2018-09

Variant appearance in text: CFTR: G576A

PubMed Link: 33072945

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.

Journal Of The American Heart Association

Jiang, Xuan X; Shao, Yanqiu Y; Araj, Faris G FG; Amin, Alpesh A AA; Greenberg, Benjamin M BM; Drazner, Mark H MH; Xing, Chao C; Mammen, Pradeep P A PPA

Publication Date: 2020-10-20

Variant appearance in text: CFTR: G576A; rs1800098

PubMed Link: 33003980

Variant Present in the following documents:

• JAH3-9-e016799.pdf
• JAH3-9-e016799-s001.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: CFTR: G576A

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: G576A

PubMed Link: 32512765

Variant Present in the following documents:

• Main text
• genes-11-00619.pdf

View BVdb publication page

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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: G576A

PubMed Link: 32357917

Variant Present in the following documents:

• Main text

View BVdb publication page

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.

Emc. Pediatria

Noël, S S; Sermet-Gaudelus, I I

Publication Date: 2020-03

Variant appearance in text: CFTR: G576A

PubMed Link: 32288518

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One

Ivey, Gabrianne G; Youker, Robert T RT

Publication Date: 2020

Variant appearance in text: CFTR: G576A

PubMed Link: 31978131

Variant Present in the following documents:

• Main text
• pone.0227668.pdf

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: 1727G>C; Gly576Ala; rs1800098

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Initial regional evaluation of the Cystic Fibrosis Newborn Screening Program: data from the Mediterranean coast of Turkey

Turkish Journal Of Medical Sciences

Başaran, Abdurrahman Erdem AE; Başaran, Ayşen A; Kocacik, Dilara Fatma DF; Alper, Özgül Ö; Acican, Deniz D; Bingöl, Ayşen A

Publication Date: 2019-12-16

Variant appearance in text: CFTR: G576A

PubMed Link: 31655510

Variant Present in the following documents:

• turkjmedsci-49-1655.pdf

View BVdb publication page

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Chronic Bacterial Infection Prevalence, Risk Factors, and Characteristics: A Bronchiectasis Population-Based Prospective Study.

Journal Of Clinical Medicine

Amorim, Adelina A; Meira, Leonor L; Redondo, Margarida M; Ribeiro, Manuela M; Castro, Ricardo R; Rodrigues, Márcio M; Martins, Natália N; Hespanhol, Venceslau V

Publication Date: 2019-03-06

Variant appearance in text: CFTR: Gly576Ala

PubMed Link: 30845638

Variant Present in the following documents:

• Main text

View BVdb publication page

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The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Moghrabi, Nabil N; Alotaibi, Tariq T; Alotaibi, Sami S; Gamalmaz, Hisham H

Publication Date: 2017-03

Variant appearance in text: CFTR: G576A

PubMed Link: 30805499

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Prevalence of abnormal glucose metabolism in pediatric acute, acute recurrent and chronic pancreatitis.

Plos One

Abu-El-Haija, Maisam M; Hornung, Lindsey L; Denson, Lee A LA; Husami, Ammar A; Lin, Tom K TK; Matlock, Kristal K; Nathan, Jaimie D JD; Palermo, Joseph J JJ; Thompson, Tyler T; Valencia, C Alexander CA; Wang, Xinjian X; Woo, Jessica J; Zhang, Keijan K; Elder, Deborah D

Publication Date: 2018

Variant appearance in text: CFTR: G576A

PubMed Link: 30379828

Variant Present in the following documents:

• Main text
• pone.0204979.pdf

View BVdb publication page

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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

American Journal Of Human Genetics

Raraigh, Karen S KS; Han, Sangwoo T ST; Davis, Emily E; Evans, Taylor A TA; Pellicore, Matthew J MJ; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhou Z; Atalar, Melis M; Sharma, Neeraj N; Sheridan, Molly B MB; Sosnay, Patrick R PR; Cutting, Garry R GR

Publication Date: 2018-06-07

Variant appearance in text: CFTR: 1727G>C; G576A

PubMed Link: 29805046

Variant Present in the following documents:

• Main text

View BVdb publication page

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Revisiting sweat chloride test results based on recent guidelines for diagnosis of cystic fibrosis.

Practical Laboratory Medicine

Pagaduan, Jayson V JV; Ali, Mahesheema M; Dowlin, Michael M; Suo, Liye L; Ward, Tabitha T; Ruiz, Fadel F; Devaraj, Sridevi S

Publication Date: 2018-03

Variant appearance in text: CFTR: G576A

PubMed Link: 29326970

Variant Present in the following documents:

• Main text

View BVdb publication page

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Thirty Years of Sweat Chloride Testing at One Referral Center.

Frontiers In Pediatrics

Faria, Alethéa Guimarães AG; Marson, Fernando Augusto Lima FAL; Gomez, Carla Cristina Souza CCS; Servidoni, Maria de Fátima MF; Ribeiro, Antônio Fernando AF; Ribeiro, José Dirceu JD

Publication Date: 2017

Variant appearance in text: CFTR: G576A

PubMed Link: 29124052

Variant Present in the following documents:

• Main text
• fped-05-00222.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: 1727G>C; Gly576Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.

The Journal Of Pediatrics

Giefer, Matthew J MJ; Lowe, Mark E ME; Werlin, Steven L SL; Zimmerman, Bridget B; Wilschanski, Michael M; Troendle, David D; Schwarzenberg, Sarah Jane SJ; Pohl, John F JF; Palermo, Joseph J; Ooi, Chee Y CY; Morinville, Veronique D VD; Lin, Tom K TK; Husain, Sohail Z SZ; Himes, Ryan R; Heyman, Melvin B MB; Gonska, Tanja T; Gariepy, Cheryl E CE; Freedman, Steven D SD; Fishman, Douglas S DS; Bellin, Melena D MD; Barth, Bradley B; Abu-El-Haija, Maisam M; Uc, Aliye A

Publication Date: 2017-07

Variant appearance in text: CFTR: G576A

PubMed Link: 28502372

Variant Present in the following documents:

• Main text

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Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.

Human Mutation

Kundu, Kunal K; Pal, Lipika R LR; Yin, Yizhou Y; Moult, John J

Publication Date: 2017-09

Variant appearance in text: CFTR: 1727G>C; G576A; rs1800098

PubMed Link: 28497567

Variant Present in the following documents:

• Main text

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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: 1727G>C; G576A

PubMed Link: 28356823

Variant Present in the following documents:

• Main text
• jomb-2014-0055.pdf

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: CFTR: 1727G>C; G576A

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

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Poster Session Abstracts.

Pediatric Pulmonology

Publication Date: 2016-10

Variant appearance in text: CFTR: G576A

PubMed Link: 27653516

Variant Present in the following documents:

• Main text

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The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation

Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL

Publication Date: 2016

Variant appearance in text: rs1800098

PubMed Link: 27408750

Variant Present in the following documents:

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: CFTR: G576A; rs1800098

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

Molecular Medicine (Cambridge, Mass.)

Sofia, Valentina Maria VM; Da Sacco, Letizia L; Surace, Cecilia C; Tomaiuolo, Anna Cristina AC; Genovese, Silvia S; Grotta, Simona S; Gnazzo, Maria M; Ciocca, Laura L; Petrocchi, Stefano S; Alghisi, Federico F; Montemitro, Enza E; Martemucci, Luigi L; Elce, Ausilia A; Lucidi, Vincenzina V; Castaldo, Giuseppe G; Angioni, Adriano A

Publication Date: 2016-09

Variant appearance in text: CFTR: 1727G>C; G576A

PubMed Link: 27264265

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: G576A

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: 1727G>C; G576A

PubMed Link: 26900683

Variant Present in the following documents:

• Main text

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Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.

Plos Genetics

Soukarieh, Omar O; Gaildrat, Pascaline P; Hamieh, Mohamad M; Drouet, Aurélie A; Baert-Desurmont, Stéphanie S; Frébourg, Thierry T; Tosi, Mario M; Martins, Alexandra A

Publication Date: 2016-01

Variant appearance in text: CFTR: 1727G>C; G576A

PubMed Link: 26761715

Variant Present in the following documents:

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs1800098

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.

Plos One

Delio, Maria M; Patel, Kunjan K; Maslov, Alex A; Marion, Robert W RW; McDonald, Thomas V TV; Cadoff, Evan M EM; Golden, Aaron A; Greally, John M JM; Vijg, Jan J; Morrow, Bernice B; Montagna, Cristina C

Publication Date: 2015

Variant appearance in text: CFTR: G576A

PubMed Link: 26214305

Variant Present in the following documents:

• Main text
• pone.0133742.s005.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CFTR: G576A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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