CFTR c.489+1G>T

Variant ID: 7-117171169-G-T

NM_000492.3(CFTR):c.489+1G>T

This variant was identified in 60 publications

View GRCh38 version.




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: 489+1G>T; rs78756941
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: 489+1G>T
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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

Diagnostics (Basel, Switzerland)
Auzenbaha, Madara M; Aleksejeva, Elina E; Taurina, Gita G; Kornejeva, Liene L; Kempa, Inga I; Svabe, Vija V; Gailite, Linda L
Publication Date: 2022-11-21

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 36428953
Variant Present in the following documents:
  • diagnostics-12-02893.pdf
View BVdb publication page



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

Current Issues In Molecular Biology
Kondratyeva, Elena E; Bulatenko, Nataliya N; Melyanovskaya, Yuliya Y; Efremova, Anna A; Zhekaite, Elena E; Sherman, Viktoriya V; Voronkova, Anna A; Asherova, Irina I; Polyakov, Alexander A; Adyan, Tagui T; Kovalskaia, Valeriia V; Bukharova, Tatiana T; Goldshtein, Dmitry D; Kutsev, Sergey S
Publication Date: 2022-10-21

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 36286063
Variant Present in the following documents:
  • Main text
  • cimb-44-00349.pdf
View BVdb publication page



Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

Npj Genomic Medicine
Boonsawat, Paranchai P; Horn, Anselm H C AHC; Steindl, Katharina K; Baumer, Alessandra A; Joset, Pascal P; Kraemer, Dennis D; Bahr, Angela A; Ivanovski, Ivan I; Cabello, Elena M EM; Papik, Michael M; Zweier, Markus M; Oneda, Beatrice B; Sirleto, Pietro P; Burkhardt, Tilo T; Sticht, Heinrich H; Rauch, Anita A
Publication Date: 2022-07-29

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 35906228
Variant Present in the following documents:
  • 41525_2022_316_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.

Cells
Ensinck, Marjolein M MM; Carlon, Marianne S MS
Publication Date: 2022-06-08

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 35740997
Variant Present in the following documents:
  • Main text
  • cells-11-01868.pdf
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: 489+1G>T
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
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: rs78756941
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_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: 489+1G>T
PubMed Link: 34350279
Variant Present in the following documents:
  • 00856-2020.supplement.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: 489+1G>T
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: 489+1G>T; rs78756941
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.

Journal Of Medical Genetics
Bchetnia, Mbarka M; Bouchard, Luigi L; Mathieu, Jean J; Campeau, Philippe M PM; Morin, Charles C; Brisson, Diane D; Laberge, Anne-Marie AM; Vézina, Hélène H; Gaudet, Daniel D; Laprise, Catherine C
Publication Date: 2021-10

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 33910931
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic Fibrosis Polymorphic Variants in a Russian Population.

Pharmacogenomics And Personalized Medicine
Kiseleva, Anna A; Klimushina, Marina M; Sotnikova, Evgeniia E; Skirko, Olga O; Divashuk, Mikhail M; Kurilova, Olga O; Ershova, Alexandra A; Khlebus, Eleonora E; Zharikova, Anastasia A; Efimova, Irina I; Pokrovskaya, Maria M; Slominsky, Petr A PA; Shalnova, Svetlana S; Meshkov, Alexey A; Drapkina, Oxana O
Publication Date: 2020

Variant appearance in text: rs78756941
PubMed Link: 33623413
Variant Present in the following documents:
  • Main text
  • pgpm-13-679.pdf
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Plos Genetics
Joynt, Anya T AT; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis-Marcisak, Emily F EF; Aksit, Melis A MA; Eastman, Alice C AC; Patel, Shivani U SU; Paul, Kathleen C KC; Osorio, Derek L DL; Bowling, Alyssa D AD; Cotton, Calvin U CU; Raraigh, Karen S KS; West, Natalie E NE; Merlo, Christian A CA; Cutting, Garry R GR; Sharma, Neeraj N
Publication Date: 2020-10

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 33085659
Variant Present in the following documents:
  • Main text
  • pgen.1009100.pdf
View BVdb publication page



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

Journal Of Personalized Medicine
Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2020-09-22

Variant appearance in text: CFTR: 489+1G>T; rs78756941
PubMed Link: 32971794
Variant Present in the following documents:
  • jpm-10-00140-s001.pdf
View BVdb publication page



Circulating brain-derived neurotrophic factor, leptin, neuropeptide Y, and their clinical correlates in cystic fibrosis: a cross-sectional study.

Archives Of Medical Science : Ams
Nowak, Jan K JK; Szczepanik, Mariusz M; Trypuć, Magdalena M; Pogorzelski, Andrzej A; Bobkowski, Waldemar W; Grytczuk, Marcin M; Minarowska, Alina A; Wójciak, Rafał R; Walkowiak, Jaroslaw J
Publication Date: 2020

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 32863993
Variant Present in the following documents:
  • Main text
  • AMS-16-5-32592.pdf
View BVdb publication page



Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing.

International Journal Of Neonatal Screening
Hendrix, Miyono M MM; Cuthbert, Carla D CD; Cordovado, Suzanne K SK
Publication Date: 2020-06

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 32514487
Variant Present in the following documents:
  • Main text
  • IJNS-06-00036.pdf
View BVdb publication page



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

Genes
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA
Publication Date: 2020-05-15

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 32429104
Variant Present in the following documents:
  • Main text
View BVdb publication page



.

Emc. Pediatria
Noël, S S; Sermet-Gaudelus, I I
Publication Date: 2020-03

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 32288518
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 32242007
Variant Present in the following documents:
  • 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



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

Bmc Pediatrics
Lascano-Vaca, Yazmina Y; Ortiz-Prado, Esteban E; Gomez-Barreno, Lenin L; Simbaña-Rivera, Katherine K; Vasconez, Eduardo E; Lister, Alexander A; Arteaga-Espinosa, María Emilia ME; Perez, Geovanny F GF
Publication Date: 2020-03-06

Variant appearance in text: rs78756941
PubMed Link: 32143663
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time

Balkan Medical Journal
Yalçıntepe, Sinem S; Gürkan, Hakan H; Atlı, Engin E; Sayın, Niyazi Cenk NC; Başaran, Ümit Nusret ÜN
Publication Date: 2020-08-11

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 32106665
Variant Present in the following documents:
  • Main text
  • BMJ-37-297.pdf
View BVdb publication page



Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics
Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P
Publication Date: 2019

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 31832098
Variant Present in the following documents:
  • 13039_2019_459_MOESM4_ESM.xlsx, sheet 1
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: 489+1G>T; rs78756941
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Molecular Genetics & Genomic Medicine
Petrova, Guergana G; Yaneva, Nadezhda N; Hrbková, Jana J; Libik, Malgorzata M; Savov, Alexey A; Macek, Milan M
Publication Date: 2019-08

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 31245908
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: 489+1G>T
PubMed Link: 31036917
Variant Present in the following documents:
  • 41436_2019_525_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

European Journal Of Human Genetics : Ejhg
Thauvin-Robinet, Christel C; Thevenon, Julien J; Nambot, Sophie S; Delanne, Julian J; Kuentz, Paul P; Bruel, Ange-Line AL; Chassagne, Aline A; Cretin, Elodie E; Pelissier, Aurore A; Peyron, Chritine C; Gautier, Elodie E; Lehalle, Daphné D; Jean-Marçais, Nolwenn N; Callier, Patrick P; Mosca-Boidron, Anne-Laure AL; Vitobello, Antonio A; Sorlin, Arthur A; Tran Mau-Them, Frédéric F; Philippe, Christophe C; Vabres, Pierre P; Demougeot, Laurent L; Poé, Charlotte C; Jouan, Thibaud T; Chevarin, Martin M; Lefebvre, Mathilde M; Bardou, Marc M; Tisserant, Emilie E; Luu, Maxime M; Binquet, Christine C; Deleuze, Jean-François JF; Verstuyft, Céline C; Duffourd, Yannis Y; Faivre, Laurence L
Publication Date: 2019-08

Variant appearance in text: rs78756941
PubMed Link: 31019283
Variant Present in the following documents:
  • Main text
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: rs78756941
PubMed Link: 30996306
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_42404.pdf
View BVdb publication page



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

Bmc Medical Genetics
Petrova, N V NV; Kashirskaya, N Y NY; Saydaeva, D K DK; Polyakov, A V AV; Adyan, T A TA; Simonova, O I OI; Gorinova, Y V YV; Kondratyeva, E I EI; Sherman, V D VD; Novoselova, O G OG; Vasilyeva, T A TA; Marakhonov, A V AV; Macek, M M; Ginter, E K EK; Zinchenko, R A RA
Publication Date: 2019-03-21

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 30898088
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_785.pdf
View BVdb publication page



Reappraisal of Frequency of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Iranian Cystic Fibrosis Patients.

Tanaffos
Khalilzadeh, Soheila S; Hassanzad, Maryam M; PourAbdollah Toutkaboni, Mihan M; Tashayoie Nejad, Sabereh S; Sheikholeslami, Fatemeh-Maryam FM; Velayati, Ali Akbar AA
Publication Date: 2018-02

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 30627177
Variant Present in the following documents:
  • Main text
  • Tanaffos-17-73.pdf
View BVdb publication page



Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

The Journal Of Molecular Diagnostics : Jmd
Kerschner, Jenny L JL; Ghosh, Sujana S; Paranjapye, Alekh A; Cosme, Wilmel R WR; Audrézet, Marie-Pierre MP; Nakakuki, Miyuki M; Ishiguro, Hiroshi H; Férec, Claude C; Rommens, Johanna J; Harris, Ann A
Publication Date: 2019-01

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 30296588
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recent advances in developing therapeutics for cystic fibrosis.

Human Molecular Genetics
Strug, Lisa J LJ; Stephenson, Anne L AL; Panjwani, Naim N; Harris, Ann A
Publication Date: 2018-08-01

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 30060192
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic sequencing identifies secondary findings in a cohort of parent study participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thompson, Michelle L ML; Finnila, Candice R CR; Bowling, Kevin M KM; Brothers, Kyle B KB; Neu, Matthew B MB; Amaral, Michelle D MD; Hiatt, Susan M SM; East, Kelly M KM; Gray, David E DE; Lawlor, James M J JMJ; Kelley, Whitley V WV; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Levy, Shawn E SE; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM
Publication Date: 2018-12

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 29790872
Variant Present in the following documents:
  • Main text
  • nihms952080.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs78756941
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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: 489+1G>T; rs78756941
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
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: 489+1G>T
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



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

Genome Medicine
Bowling, Kevin M KM; Thompson, Michelle L ML; Amaral, Michelle D MD; Finnila, Candice R CR; Hiatt, Susan M SM; Engel, Krysta L KL; Cochran, J Nicholas JN; Brothers, Kyle B KB; East, Kelly M KM; Gray, David E DE; Kelley, Whitley V WV; Lamb, Neil E NE; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Whittle, Jana S JS; Weaver, Benjamin T BT; Nesmith, Amy S AS; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM
Publication Date: 2017-05-30

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 28554332
Variant Present in the following documents:
  • 13073_2017_433_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

American Journal Of Human Genetics
Lee, Melissa M; Roos, Patrick P; Sharma, Neeraj N; Atalar, Melis M; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Lam, Anh-Thu N AN; Stanley, Susan E SE; Khalil, Sara E SE; Solomon, George M GM; Walker, Doug D; Raraigh, Karen S KS; Vecchio-Pagan, Briana B; Armanios, Mary M; Cutting, Garry R GR
Publication Date: 2017-05-04

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 28475858
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 489+1G>T
PubMed Link: 28356823
Variant Present in the following documents:
  • Main text
  • jomb-2014-0055.pdf
View BVdb publication page



Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.

The Application Of Clinical Genetics
Sánchez, Karen K; de Mendonca, Elizabeth E; Matute, Xiorama X; Chaustre, Ismenia I; Villalón, Marlene M; Takiff, Howard H
Publication Date: 2016

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 27022295
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 489+1G>T
PubMed Link: 26900683
Variant Present in the following documents:
  • Main text
  • pone.0149426.pdf
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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: rs78756941
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M
Publication Date: 2016-04

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 26014425
Variant Present in the following documents:
  • Main text
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A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)
Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R
Publication Date: 2015-04-21

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 25910067
Variant Present in the following documents:
  • Main text
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SNaPshot assay for the detection of the most common CFTR mutations in infertile men.

Plos One
Noveski, Predrag P; Madjunkova, Svetlana S; Mircevska, Marija M; Plaseski, Toso T; Filipovski, Vanja V; Plaseska-Karanfilska, Dijana D
Publication Date: 2014

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 25386751
Variant Present in the following documents:
  • Main text
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CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Plos One
Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M
Publication Date: 2014

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 24586523
Variant Present in the following documents:
  • Main text
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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics
Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR
Publication Date: 2013-10

Variant appearance in text: rs78756941
PubMed Link: 23974870
Variant Present in the following documents:
  • NIHMS512446-supplement-12.xlsx, sheet 1
  • NIHMS512446-supplement-12.xlsx, sheet 2
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A comprehensive assay for CFTR mutational analysis using next-generation sequencing.

Clinical Chemistry
Abou Tayoun, Ahmad N AN; Tunkey, Christopher D CD; Pugh, Trevor J TJ; Ross, Tristen T; Shah, Minita M; Lee, Clarence C CC; Harkins, Timothy T TT; Wells, Wendy A WA; Tafe, Laura J LJ; Amos, Christopher I CI; Tsongalis, Gregory J GJ
Publication Date: 2013-10

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 23775370
Variant Present in the following documents:
  • Main text
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The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).

Biomed Research International
Censi, F F; Tosto, F F; Floridia, G G; Marra, M M; Salvatore, M M; Baffico, A M AM; Grasso, M M; Melis, M A MA; Pelo, E E; Radice, P P; Ravani, A A; Rosatelli, C C; Resta, N N; Russo, S S; Seia, M M; Varesco, L L; Falbo, V V; Taruscio, D D
Publication Date: 2013

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 23484150
Variant Present in the following documents:
  • Main text
  • BMRI2013-739010.pdf
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The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: rs78756941
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-8.xlsx, sheet 1
  • NIHMS474900-supplement-9.xlsx, sheet 1
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The curation of genetic variants: difficulties and possible solutions.

Genomics, Proteomics & Bioinformatics
Pandey, Kapil Raj KR; Maden, Narendra N; Poudel, Barsha B; Pradhananga, Sailendra S; Sharma, Amit Kumar AK
Publication Date: 2012-12

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 23317699
Variant Present in the following documents:
  • Main text
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The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis.

European Journal Of Human Genetics : Ejhg
Deans, Zandra Z; Fiorentino, Francesco F; Biricik, Anil A; Traeger-Synodinos, Joanne J; Moutou, Céline C; De Rycke, Martine M; Renwick, Pamela P; Sengupta, Sioban S; Goossens, Veerle V; Harton, Gary G
Publication Date: 2013-08

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 23150080
Variant Present in the following documents:
  • Main text
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Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.

Plos Genetics
Henderson, Lindsay B LB; Doshi, Vishal K VK; Blackman, Scott M SM; Naughton, Kathleen M KM; Pace, Rhonda G RG; Moskovitz, Jackob J; Knowles, Michael R MR; Durie, Peter R PR; Drumm, Mitchell L ML; Cutting, Garry R GR
Publication Date: 2012

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 22438829
Variant Present in the following documents:
  • Main text
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Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Earley, Marie C MC; Laxova, Anita A; Farrell, Philip M PM; Driscoll-Dunn, Rena R; Cordovado, Suzanne S; Mogayzel, Peter J PJ; Konstan, Michael W MW; Hannon, W Harry WH
Publication Date: 2011-07-15

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 21514289
Variant Present in the following documents:
  • Main text
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CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.

Journal Of Medical Genetics
Sheridan, Molly B MB; Hefferon, Timothy W TW; Wang, Nulang N; Merlo, Christian C; Milla, Carlos C; Borowitz, Drucy D; Green, Eric D ED; Mogayzel, Peter J PJ; Cutting, Garry R GR
Publication Date: 2011-04

Variant appearance in text:
PubMed Link: 21097845
Variant Present in the following documents:
  • Main text
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Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Human Mutation
Scott, Stuart A SA; Edelmann, Lisa L; Liu, Liu L; Luo, Minjie M; Desnick, Robert J RJ; Kornreich, Ruth R
Publication Date: 2010-11

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 20672374
Variant Present in the following documents:
  • Main text
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Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.

European Journal Of Human Genetics : Ejhg
McClaren, Belinda J BJ; Metcalfe, Sylvia A SA; Aitken, Maryanne M; Massie, R John RJ; Ukoumunne, Obioha C OC; Amor, David J DJ
Publication Date: 2010-10

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 20512163
Variant Present in the following documents:
  • Main text
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Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

Human Mutation
Krasnov, Kristina V KV; Tzetis, Maria M; Cheng, Jie J; Guggino, William B WB; Cutting, Garry R GR
Publication Date: 2008-11

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 18951463
Variant Present in the following documents:
  • Main text
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Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.

The Journal Of Molecular Diagnostics : Jmd
Ogino, Shuji S; Gulley, Margaret L ML; den Dunnen, Johan T JT; Wilson, Robert B RB; ,
Publication Date: 2007-02

Variant appearance in text: CFTR: 489+1G>T
PubMed Link: 17251329
Variant Present in the following documents:
  • Main text
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