Publications:

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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: 579+1G>T

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Association between phenotypic and genotypic characteristics and disease severity in individuals with cystic fibrosis.

Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo

Carneiro, Gabriella Vieira GV; Oliveira, Fabiana Sodré de FS; Pereira, Leandro Alves LA; Rezende, Érica Rodrigues Mariano de Almeida ÉRMA; Gonçalves, Luciana Carneiro Pereira LCP; Azevedo, Vivian Mara Gonçalves de Oliveira VMGO

Publication Date: 2022

Variant appearance in text: CFTR: 579+1G>T

PubMed Link: 36102402

Variant Present in the following documents:

• Main text
• 1984-0462-rpp-41-e2021286.pdf

View BVdb publication page

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The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Qeretli, Raef R; Ramadan, Ali A; Al-Ibraheem, Abdullah A; Bnatig, Fahad F

Publication Date: 2022-03

Variant appearance in text: CFTR: 579+1G>T; rs77188391

PubMed Link: 35573065

Variant Present in the following documents:

• Main text
• main.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: 579+1G>T

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.

The European Respiratory Journal

Muilwijk, Danya D; de Poel, Eyleen E; van Mourik, Peter P; Suen, Sylvia W F SWF; Vonk, Annelotte M AM; Brunsveld, Jesse E JE; Kruisselbrink, Evelien E; Oppelaar, Hugo H; Hagemeijer, Marne C MC; Berkers, Gitte G; de Winter-de Groot, Karin M KM; Heida-Michel, Sabine S; Jans, Stephan R SR; van Panhuis, Hannah H; van der Eerden, Menno M MM; van der Meer, Renske R; Roukema, Jolt J; Dompeling, Edward E; Weersink, Els J M EJM; Koppelman, Gerard H GH; Vries, Robert R; Zomer-van Ommen, Domenique D DD; Eijkemans, Marinus J C MJC; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM

Publication Date: 2022-08

Variant appearance in text: CFTR: 579+1G>T

PubMed Link: 35086832

Variant Present in the following documents:

• ERJ-00508-2021.Supplement.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: rs77188391

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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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: 579+1G>T

PubMed Link: 34350279

Variant Present in the following documents:

• 00856-2020.supplement.pdf

View BVdb publication page

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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: 579+1G>T

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

View BVdb publication page

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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: 579+1G>T; rs77188391

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 579+1G>T

PubMed Link: 33910931

Variant Present in the following documents:

• Main text

View BVdb publication page

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Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Al-Mogarri, Ibrahim I; Nizami, Imran I; Al-Haider, Sami S; AlMaghamsi, Talal T; Alkaf, Sara S; Al-Enazi, Abdulaziz A; Moghrabi, Nabil N

Publication Date: 2021-03

Variant appearance in text: CFTR: 579+1G>T; rs77188391

PubMed Link: 33718573

Variant Present in the following documents:

• Main text
• main.pdf

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: 579+1G>T; rs77188391

PubMed Link: 33613790

Variant Present in the following documents:

• Main text
• DM2021-9812074.pdf

View BVdb publication page

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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: 579+1G>T

PubMed Link: 33085659

Variant Present in the following documents:

• Main text
• pgen.1009100.pdf

View BVdb publication page

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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: 579+1G>T

PubMed Link: 32514487

Variant Present in the following documents:

• Main text
• IJNS-06-00036.pdf

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: 579+1G>T

PubMed Link: 32288518

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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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: 579+1G>T; rs77188391

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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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: 579+1G>T

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs77188391

PubMed Link: 31019283

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs77188391

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: rs77188391

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: rs77188391

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Andrology

de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S

Publication Date: 2018-01

Variant appearance in text: CFTR: 579+1G>T

PubMed Link: 29216686

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 579+1G>T; rs77188391

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

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: 579+1G>T

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: 579+1G>T

PubMed Link: 27022295

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 579+1G>T

PubMed Link: 26014425

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 579+1G>T

PubMed Link: 25910067

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 579+1G>T

PubMed Link: 24586523

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: CFTR: 579+1G>T

PubMed Link: 23974870

Variant Present in the following documents:

• NIHMS512446-supplement-12.xlsx, sheet 2
• NIHMS512446-supplement-12.xlsx, sheet 1

View BVdb publication page

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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: 579+1G>T

PubMed Link: 23775370

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 579+1G>T

PubMed Link: 23484150

Variant Present in the following documents:

• Main text
• BMRI2013-739010.pdf

View BVdb publication page

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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: 579+1G>T

PubMed Link: 21514289

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 579+1G>T

PubMed Link: 20672374

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 579+1G>T

PubMed Link: 17251329

Variant Present in the following documents:

• Main text

View BVdb publication page

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