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: 328G>C; Asp110His; rs113993958

PubMed Link: 37175647

Variant Present in the following documents:

• ijms-24-07940.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: 328G>C; Asp110His

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: D110H

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: D110H

PubMed Link: 36631132

Variant Present in the following documents:

• Main text
• ERR-0154-2022.pdf

View BVdb publication page

---

Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.

International Journal Of Neonatal Screening

Bianchimani, Chiara C; Dolce, Daniela D; Centrone, Claudia C; Campana, Silvia S; Ravenni, Novella N; Orioli, Tommaso T; Camera, Erica E; Mergni, Gianfranco G; Fevola, Cristina C; Bonomi, Paolo P; Taccetti, Giovanni G; Terlizzi, Vito V

Publication Date: 2022-08-03

Variant appearance in text: CFTR: D110H

PubMed Link: 35997436

Variant Present in the following documents:

• IJNS-08-00046.pdf

View BVdb publication page

---

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: CFTR: 328G>C; D110H; rs113993958

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

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: D110H

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

View BVdb publication page

---

The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Balkan Medical Journal

Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A

Publication Date: 2021-11

Variant appearance in text: CFTR: 328G>C; rs113993958

PubMed Link: 34860163

Variant Present in the following documents:

• bmj-38-6-357.pdf

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: D110H

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: rs113993958

PubMed Link: 34541464

Variant Present in the following documents:

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

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: D110H

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: 328G>C; Asp110His

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

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: 328G>C; Asp110His; rs113993958

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Fertility, Pregnancy and Lactation Considerations for Women with CF in the CFTR Modulator Era.

Journal Of Personalized Medicine

Jain, Raksha R; Taylor-Cousar, Jennifer L JL

Publication Date: 2021-05-15

Variant appearance in text: CFTR: 328G>C; D110H

PubMed Link: 34063507

Variant Present in the following documents:

• Main text

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: D110H

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters.

Diagnostics (Basel, Switzerland)

Zeyda, Maximilian M; Schanzer, Andrea A; Basek, Pavel P; Bauer, Vera V; Eber, Ernst E; Ellemunter, Helmut H; Kallinger, Margit M; Riedler, Josef J; Thir, Christina C; Wadlegger, Franz F; Zacharasiewicz, Angela A; Renner, Sabine S

Publication Date: 2021-02-13

Variant appearance in text: CFTR: D110H

PubMed Link: 33668470

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: D110H

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

View BVdb publication page

---

Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes.

Clinical Kidney Journal

Bamgbola, Oluwatoyin Fatai OF; Ahmed, Youssef Y

Publication Date: 2021-01

Variant appearance in text: CFTR: D110H

PubMed Link: 33564404

Variant Present in the following documents:

• Main text

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: D110H

PubMed Link: 33282281

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Multicentre feasibility of multiple-breath washout in preschool children with cystic fibrosis and other lung diseases.

Erj Open Research

Stahl, Mirjam M; Joachim, Cornelia C; Kirsch, Ines I; Uselmann, Tatjana T; Yu, Yin Y; Alfeis, Nadine N; Berger, Christiane C; Minso, Rebecca R; Rudolf, Isa I; Stolpe, Cornelia C; Bovermann, Xenia X; Liboschik, Lena L; Steinmetz, Alena A; Tennhardt, Dunja D; Dörfler, Friederike F; Röhmel, Jobst J; Unorji-Frank, Klaudia K; Rückes-Nilges, Claudia C; von Stoutz, Bianca B; Naehrlich, Lutz L; Kopp, Matthias V MV; Dittrich, Anna-Maria AM; Sommerburg, Olaf O; Mall, Marcus A MA

Publication Date: 2020-10

Variant appearance in text: CFTR: D110H

PubMed Link: 33263048

Variant Present in the following documents:

• 00408-2020.SUPPLEMENT.pdf

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: D110H

PubMed Link: 33073036

Variant Present in the following documents:

• IJNS-06-00046-s001.xlsx, sheet 1

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: D110H

PubMed Link: 32934006

Variant Present in the following documents:

• mmc1.pdf

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: 328G>C; D110H

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: D110H

PubMed Link: 32414011

Variant Present in the following documents:

• Main text

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: D110H

PubMed Link: 32357917

Variant Present in the following documents:

• Main text
• 12881_2020_Article_958.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: D110H

PubMed Link: 32168995

Variant Present in the following documents:

• Main text

View BVdb publication page

---

CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine.

Frontiers In Pharmacology

Lopes-Pacheco, Miquéias M

Publication Date: 2019

Variant appearance in text: CFTR: D110H

PubMed Link: 32153386

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: D110H

PubMed Link: 32130336

Variant Present in the following documents:

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

View BVdb publication page

---

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: CFTR: 328G>C; Asp110His

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

---

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

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CFTR: 328G>C; D110H

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

---

Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.

Scientific Reports

Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Rivera, Amber A AA; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Haggie, Peter M PM; Verkman, Alan S AS

Publication Date: 2019-11-27

Variant appearance in text: CFTR: D110H

PubMed Link: 31776420

Variant Present in the following documents:

• Main text
• 41598_2019_Article_54158.pdf

View BVdb publication page

---

Cystic fibrosis precision therapeutics: Emerging considerations.

Pediatric Pulmonology

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

Publication Date: 2019-11

Variant appearance in text: CFTR: D110H

PubMed Link: 31715091

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 328G>C; Asp110His; rs113993958

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---

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

Scientific Reports

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

Publication Date: 2019-09-04

Variant appearance in text: CFTR: 328G>C; D110H

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Acute Recurrent and Chronic Pancreatitis as Initial Manifestations of Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders.

Pancreas

Baldwin, Christina C; Zerofsky, Melissa M; Sathe, Meghana M; Troendle, David M DM; Perito, Emily R ER

Publication Date: 2019-08

Variant appearance in text: CFTR: D110H

PubMed Link: 31268981

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 328G>C; D110H

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

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

Scientific Reports

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

Publication Date: 2019-04-17

Variant appearance in text: CFTR: 328G>C; Asp110His; rs113993958

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

View BVdb publication page

---

Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.

Frontiers In Pharmacology

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

Publication Date: 2019

Variant appearance in text: CFTR: 328G>C; Asp110His

PubMed Link: 30930780

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Orphanet Journal Of Rare Diseases

Najafi, Maryam M; Kordi-Tamandani, Dor Mohammad DM; Behjati, Farkhondeh F; Sadeghi-Bojd, Simin S; Bakey, Zeineb Z; Karimiani, Ehsan Ghayoor EG; Schüle, Isabel I; Azarfar, Anoush A; Schmidts, Miriam M

Publication Date: 2019-02-13

Variant appearance in text: CFTR: D110H

PubMed Link: 30760291

Variant Present in the following documents:

• Main text
• 13023_2018_Article_981.pdf

View BVdb publication page

---

Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.

Genomics & Informatics

Yoon, Kyong-Ah KA; Woo, Sang Myung SM; Kim, Yun-Hee YH; Kong, Sun-Young SY; Han, Sung-Sik SS; Park, Sang-Jae SJ; Lee, Woo Jin WJ

Publication Date: 2018-12

Variant appearance in text: CFTR/MRP: 328G>C

PubMed Link: 30602096

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Asp110His; rs113993958

PubMed Link: 30563187

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)

Sofia, Valentina Maria VM; Surace, Cecilia C; Terlizzi, Vito V; Da Sacco, Letizia L; Alghisi, Federico F; Angiolillo, Antonella A; Braggion, Cesare C; Cirilli, Natalia N; Colombo, Carla C; Di Lullo, Antonella A; Padoan, Rita R; Quattrucci, Serena S; Raia, Valeria V; Tuccio, Giuseppe G; Zarrilli, Federica F; Tomaiuolo, Anna Cristina AC; Novelli, Antonio A; Lucidi, Vincenzina V; Lucarelli, Marco M; Castaldo, Giuseppe G; Angioni, Adriano A

Publication Date: 2018-07-27

Variant appearance in text: CFTR: D110H

PubMed Link: 30134826

Variant Present in the following documents:

• Main text
• 10020_2018_Article_41.pdf

View BVdb publication page

---

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

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

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

Publication Date: 2019-02

Variant appearance in text: CFTR: D110H

PubMed Link: 29858578

Variant Present in the following documents:

• NIHMS965181-supplement-Sup_file.xlsx, sheet 10

View BVdb publication page

---

CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations.

Journal Of Reproduction & Infertility

Karimi, Nasibeh N; Alibakhshi, Reza R; Almasi, Shekoufeh S

Publication Date: 2018

Variant appearance in text: CFTR: D110H

PubMed Link: 29850441

Variant Present in the following documents:

• Main text
• JRI-19-3.pdf

View BVdb publication page

---

Cystic Fibrosis: Translating Molecular Mechanisms into Effective Therapies.

Annals Of The American Thoracic Society

Jennings, Mark T MT; Flume, Patrick A PA

Publication Date: 2018-08

Variant appearance in text: CFTR: D110H

PubMed Link: 29812963

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: D110H

PubMed Link: 29124052

Variant Present in the following documents:

• Main text
• fped-05-00222.pdf

View BVdb publication page

---

The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: CFTR: 328G>C; Asp110His; rs113993958

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

---

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

Physiological Genomics

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

Publication Date: 2017-10-01

Variant appearance in text: CFTR: D110H

PubMed Link: 28887371

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 328G>C; Asp110His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

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: 328G>C; D110H

PubMed Link: 28152038

Variant Present in the following documents:

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

View BVdb publication page

---

CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis.

Frontiers In Pharmacology

Lopes-Pacheco, Miquéias M

Publication Date: 2016

Variant appearance in text: CFTR: D110H

PubMed Link: 27656143

Variant Present in the following documents:

• Main text

View BVdb publication page

---