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: R75Q

PubMed Link: 36983403

Variant Present in the following documents:

• Main text
• jcm-12-02403.pdf

View BVdb publication page

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Genetic outline of the hermeneutics of the diseases connection phenomenon in human.

Vavilovskii Zhurnal Genetiki I Selektsii

Bragina, E Yu EY; Puzyrev, V P VP

Publication Date: 2023-03

Variant appearance in text: CFTR: R75Q

PubMed Link: 36923482

Variant Present in the following documents:

• VJGB-27-2303.pdf

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: R75Q

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: 224G>A; Arg75Gln

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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Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis.

Plos One

Berke, Gergő G; Gede, Noémi N; Szadai, Letícia L; Ocskay, Klementina K; Hegyi, Péter P; Sahin-Tóth, Miklós M; Hegyi, Eszter E

Publication Date: 2022

Variant appearance in text: CFTR: Arg75Gln

PubMed Link: 36264955

Variant Present in the following documents:

• Main text
• pone.0276397.pdf

View BVdb publication page

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Persistent Eosinophilia and Fever in Pancreatitis: A Clinical Conundrum.

Journal Of Investigative Medicine High Impact Case Reports

Noel, John J; Fields, Abbott A; Rami, Arrouk A; Nirupma, Sharma S

Publication Date: 2022

Variant appearance in text: CFTR: R75Q

PubMed Link: 35723281

Variant Present in the following documents:

• Main text
• 10.1177_23247096221104465.pdf

View BVdb publication page

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Splicing mutations in the CFTR gene as therapeutic targets.

Gene Therapy

Deletang, Karine K; Taulan-Cadars, Magali M

Publication Date: 2022-08

Variant appearance in text: CFTR: 224G>A

PubMed Link: 35650428

Variant Present in the following documents:

• Main text
• 41434_2022_Article_347.pdf

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: CFTR: 224G>A; Arg75Gln

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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: R75Q

PubMed Link: 35418593

Variant Present in the following documents:

• Main text
• 42003_2022_Article_3302.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: 224G>A; R75Q; rs1800076

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

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: R75Q; rs1800076

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Hereditary pancreatitis: An updated review in pediatrics.

World Journal Of Clinical Pediatrics

Panchoo, Arvind Vasant AV; VanNess, Grant H GH; Rivera-Rivera, Edgardo E; Laborda, Trevor J TJ

Publication Date: 2022-01-09

Variant appearance in text: CFTR: R75Q

PubMed Link: 35096544

Variant Present in the following documents:

• WJCP-11-27.pdf

View BVdb publication page

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Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.

Cells

Angyal, Dora D; Bijvelds, Marcel J C MJC; Bruno, Marco J MJ; Peppelenbosch, Maikel P MP; de Jonge, Hugo R HR

Publication Date: 2021-12-24

Variant appearance in text: CFTR: R75Q

PubMed Link: 35011616

Variant Present in the following documents:

• Main text
• cells-11-00054.pdf

View BVdb publication page

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Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.

Cells

Angyal, Dora D; Bijvelds, Marcel J C MJC; Bruno, Marco J MJ; Peppelenbosch, Maikel P MP; de Jonge, Hugo R HR

Publication Date: 2021-12-24

Variant appearance in text: CFTR: R75Q

PubMed Link: 35011616

Variant Present in the following documents:

• Main text
• cells-11-00054.pdf

View BVdb publication page

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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: 224G>A; R75Q

PubMed Link: 34842611

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology

Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD

Publication Date: 2021-11-18

Variant appearance in text: CFTR: R75Q

PubMed Link: 34797250

Variant Present in the following documents:

• Main text
• ct9-12-e00431.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: rs1800076

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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Dysfunction in the Cystic Fibrosis Transmembrane Regulator in Chronic Obstructive Pulmonary Disease as a Potential Target for Personalised Medicine.

Biomedicines

Carrasco-Hernández, Laura L; Quintana-Gallego, Esther E; Calero, Carmen C; Reinoso-Arija, Rocío R; Ruiz-Duque, Borja B; López-Campos, José Luis JL

Publication Date: 2021-10-10

Variant appearance in text: CFTR: R75Q

PubMed Link: 34680554

Variant Present in the following documents:

• Main text
• biomedicines-09-01437.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: rs1800076

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Cystic fibrosis transmembrane conductance regulator-related male infertility: Relevance of genetic testing & counselling in Indian population.

The Indian Journal Of Medical Research

Gaikwad, Avinash A; Khan, Shagufta S; Kadam, Seema S; Shah, Rupin R; Kulkarni, Vijay V; Kumaraswamy, Rangaswamy R; Kadam, Kaushiki K; Dighe, Vikas V; Gajbhiye, Rahul R

Publication Date: 2020-12

Variant appearance in text: CFTR: 224G>A; R75Q

PubMed Link: 34145097

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: R75Q

PubMed Link: 34086412

Variant Present in the following documents:

• PHY2-9-e14886.pdf

View BVdb publication page

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Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.

Genes

Wertheim-Tysarowska, Katarzyna K; Oracz, Grzegorz G; Rygiel, Agnieszka Magdalena AM

Publication Date: 2021-05-20

Variant appearance in text: CFTR: Arg75Gln

PubMed Link: 34065437

Variant Present in the following documents:

• Main text
• genes-12-00785.pdf

View BVdb publication page

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Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

Genes

Mekki, Chadia C; Aissat, Abdel A; Mirlesse, Véronique V; Mayer Lacrosniere, Sophie S; Eche, Elsa E; Le Floch, Annick A; Whalen, Sandra S; Prud'Homme, Cecile C; Remus, Christelle C; Funalot, Benoit B; Castaigne, Vanina V; Fanen, Pascale P; de Becdelièvre, Alix A

Publication Date: 2021-04-29

Variant appearance in text: CFTR: 224G>A; R75Q; rs1800076

PubMed Link: 33946859

Variant Present in the following documents:

• Main text

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: R75Q

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: 224G>A; Arg75Gln

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: 224G>A; Arg75Gln; rs1800076

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: R75Q

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.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: R75Q

PubMed Link: 33262486

Variant Present in the following documents:

• Main text
• 41431_2020_Article_741.pdf

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: Arg75Gln; rs1800076

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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Genetic markers for treatment-related pancreatitis in a cohort of Hispanic children with acute lymphoblastic leukemia.

Supportive Care In Cancer : Official Journal Of The Multinational Association Of Supportive Care In Cancer

Grimes, Allison C AC; Chen, Yidong Y; Bansal, Hima H; Aguilar, Christine C; Perez Prado, Luz L; Quezada, Gerardo G; Estrada, Jaime J; Tomlinson, Gail E GE

Publication Date: 2021-02

Variant appearance in text: CFTR: R75Q

PubMed Link: 32447501

Variant Present in the following documents:

• Main text

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: R75Q

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: 224G>A; R75Q

PubMed Link: 32288518

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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First custom next-generation sequencing infertility panel in Latin America: design and first results.

Jbra Assisted Reproduction

Lorenzi, Daniela D; Fernández, Cecilia C; Bilinski, Melina M; Fabbro, Mónica M; Galain, Micaela M; Menazzi, Sebastián S; Miguens, Mariana M; Perassi, Pamela Nicotra PN; Fulco, María Florencia MF; Kopelman, Susana S; Fiszbajn, Gabriel G; Nodar, Florencia F; Papier, Sergio S

Publication Date: 2020-05-01

Variant appearance in text: CFTR: 224G>A; Arg75Gln

PubMed Link: 32155011

Variant Present in the following documents:

• Main text

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: R75Q

PubMed Link: 31978131

Variant Present in the following documents:

• Main text
• pone.0227668.pdf

View BVdb publication page

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Regulation of CFTR Bicarbonate Channel Activity by WNK1: Implications for Pancreatitis and CFTR-Related Disorders.

Cellular And Molecular Gastroenterology And Hepatology

Kim, Yonjung Y; Jun, Ikhyun I; Shin, Dong Hoon DH; Yoon, Jihoon G JG; Piao, He H; Jung, Jinsei J; Park, Hyun Woo HW; Cheng, Mary Hongying MH; Bahar, Ivet I; Whitcomb, David C DC; Lee, Min Goo MG

Publication Date: 2020

Variant appearance in text: CFTR: R75Q

PubMed Link: 31561038

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: CFTR: R75Q; rs1800076

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6

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: 224G>A; Arg75Gln; rs1800076

PubMed Link: 30563187

Variant Present in the following documents:

• jpm-08-00040-s001.xlsx, sheet 1

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: R75Q

PubMed Link: 30379828

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs1800076

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.

Human Molecular Genetics

Qiao, Dandi D; Ameli, Asher A; Prokopenko, Dmitry D; Chen, Han H; Kho, Alvin T AT; Parker, Margaret M MM; Morrow, Jarrett J; Hobbs, Brian D BD; Liu, Yanhong Y; Beaty, Terri H TH; Crapo, James D JD; Barnes, Kathleen C KC; Nickerson, Deborah A DA; Bamshad, Michael M; Hersh, Craig P CP; Lomas, David A DA; Agusti, Alvar A; Make, Barry J BJ; Calverley, Peter M A PMA; Donner, Claudio F CF; Wouters, Emiel F EF; Vestbo, Jørgen J; Paré, Peter D PD; Levy, Robert D RD; Rennard, Stephen I SI; Tal-Singer, Ruth R; Spitz, Margaret R MR; Sharma, Amitabh A; Ruczinski, Ingo I; Lange, Christoph C; Silverman, Edwin K EK; Cho, Michael H MH

Publication Date: 2018-11-01

Variant appearance in text: rs1800076

PubMed Link: 30060175

Variant Present in the following documents:

• Main text

View BVdb publication page

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: CFTR: 224G>A; Arg75Gln; rs1800076

PubMed Link: 30026549

Variant Present in the following documents:

• 41598_2018_29279_MOESM1_ESM.pdf

View BVdb publication page

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Known genetic susceptibility factors for chronic pancreatitis in patients of European ancestry are rare in patients of African ancestry.

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

Phillips, Anna Evans AE; LaRusch, Jessica J; Greer, Phil P; Abberbock, Judah J; Alkaade, Samer S; Amann, Stephen T ST; Anderson, Michelle A MA; Baillie, John J; Banks, Peter A PA; Brand, Randall E RE; Conwell, Darwin D; Coté, Gregory A GA; Forsmark, Christopher E CE; Gardner, Timothy B TB; Gelrud, Andres A; Guda, Nalini N; Lewis, Michele M; Money, Mary E ME; Muniraj, Thiruvengadam T; Sandhu, Bimaljit S BS; Sherman, Stuart S; Singh, Vikesh K VK; Slivka, Adam A; Tang, Gong G; Wilcox, C Mel CM; Whitcomb, David C DC; Yadav, Dhiraj D

Publication Date: 2018-07

Variant appearance in text: CFTR: R75Q

PubMed Link: 29859674

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cigarette Smoke-Induced Acquired Dysfunction of Cystic Fibrosis Transmembrane Conductance Regulator in the Pathogenesis of Chronic Obstructive Pulmonary Disease.

Oxidative Medicine And Cellular Longevity

Shi, Juan J; Li, Hui H; Yuan, Chao C; Luo, Meihui M; Wei, Jun J; Liu, Xiaoming X

Publication Date: 2018

Variant appearance in text: CFTR: R75Q

PubMed Link: 29849907

Variant Present in the following documents:

• Main text
• OMCL2018-6567578.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: 224G>A; R75Q

PubMed Link: 29805046

Variant Present in the following documents:

• Main text

View BVdb publication page

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Settling the score: variant prioritization and Mendelian disease.

Nature Reviews. Genetics

Eilbeck, Karen K; Quinlan, Aaron A; Yandell, Mark M

Publication Date: 2017-10

Variant appearance in text: CFTR: Arg75Gln

PubMed Link: 28804138

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: 224G>A; Arg75Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible.

Clinical Case Reports

Hinzpeter, Alexandre A; Reboul, Marie-Pierre MP; Callebaut, Isabelle I; Zordan, Cécile C; Costes, Bruno B; Guichoux, Julie J; Iron, Albert A; Lacombe, Didier D; Martin, Natacha N; Arveiler, Benoit B; Fanen, Pascale P; Fergelot, Patricia P; Girodon, Emmanuelle E

Publication Date: 2017-05

Variant appearance in text: CFTR: 224G>A; Arg75Gln

PubMed Link: 28469871

Variant Present in the following documents:

• Main text
• CCR3-5-658.pdf

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: CFTR: R75Q; rs1800076

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

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Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Bmc Medical Genomics

Fang, Han H; Wu, Yiyang Y; Yang, Hui H; Yoon, Margaret M; Jiménez-Barrón, Laura T LT; Mittelman, David D; Robison, Reid R; Wang, Kai K; Lyon, Gholson J GJ

Publication Date: 2017-02-23

Variant appearance in text: CFTR: 224G>A; R75Q

PubMed Link: 28228131

Variant Present in the following documents:

• 12920_2017_246_MOESM2_ESM.pdf

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Hereditary pancreatitis: current perspectives.

Clinical And Experimental Gastroenterology

Raphael, Kara L KL; Willingham, Field F FF

Publication Date: 2016

Variant appearance in text: CFTR: R75Q

PubMed Link: 27555793

Variant Present in the following documents:

• Main text
• ceg-9-197.pdf

View BVdb publication page

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