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: 2988+1G>A

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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Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.

Oman Medical Journal

Al Oraimi, Sumaya S; Al Shidhani, Khoula K; Al Harthi, Hasina H; Al Sinani, Suaad S; Al Busaidi, Nasser N; Al Bimani, Muna M; Al Salmi, Qasem Q; Al Kindi, Hussein H

Publication Date: 2022-11

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 36458240

Variant Present in the following documents:

• Main text
• OMJ-37-06-2200006.pdf

View BVdb publication page

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Screening by high-throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies.

Journal Of Cellular And Molecular Medicine

de Melo, Ana Cristina Vieira ACV; de Souza, Karla Simone Costa KSC; da Silva, Heglayne Pereira Vital HPV; Maia, Jussara Melo de Cerqueira JMC; Dantas, Vera Maria VM; Bezerra, João Felipe JF; de Rezende, Adriana Augusto AA

Publication Date: 2022-12

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 36369753

Variant Present in the following documents:

• Main text
• JCMM-26-5943.pdf

View BVdb publication page

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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: 2988+1G>A

PubMed Link: 36286063

Variant Present in the following documents:

• Main text
• cimb-44-00349.pdf

View BVdb publication page

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CFTR gene variants, air pollution, and childhood asthma in a California Medicaid population.

Pediatric Pulmonology

Thilakaratne, Ruwan R; Graham, Steve S; Moua, John J; Jones, Caitlin G CG; Collins, Caroline C; Mann, Jennifer J; Sciortino, Stanley S; Wong, Jacklyn J; Kharrazi, Martin M

Publication Date: 2022-11

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 35933722

Variant Present in the following documents:

• Main text
• PPUL-57-2798.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: 2988+1G>A; rs75096551

PubMed Link: 35573065

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.

Jci Insight

Raraigh, Karen S KS; Paul, Kathleen C KC; Goralski, Jennifer L JL; Worthington, Erin N EN; Faino, Anna V AV; Sciortino, Stanley S; Wang, Yiting Y; Aksit, Melis A MA; Ling, Hua H; Osorio, Derek L DL; Onchiri, Frankline M FM; Patel, Shivani U SU; Merlo, Christian A CA; Montemayor, Kristina K; Gibson, Ronald L RL; West, Natalie E NE; Thakerar, Amita A; Bridges, Robert J RJ; Sheppard, David N DN; Sharma, Neeraj N; Cutting, Garry R GR

Publication Date: 2022-03-22

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 35315358

Variant Present in the following documents:

• jciinsight-7-148841.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: 2988+1G>A

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: 2988+1G>A

PubMed Link: 35086832

Variant Present in the following documents:

• ERJ-00508-2021.Supplement.pdf

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: rs75096551

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: rs75096551

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis.

Genetics And Molecular Biology

Lima, Eliandra da Silveira EDS; Pezzin, Luíse Sgarabotto LS; Fensterseifer, Ana Carolina AC; Pinto, Leonardo Araújo LA

Publication Date: 2021

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 34874053

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis.

Genetics And Molecular Biology

Lima, Eliandra da Silveira EDS; Pezzin, Luíse Sgarabotto LS; Fensterseifer, Ana Carolina AC; Pinto, Leonardo Araújo LA

Publication Date: 2021

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 34874053

Variant Present in the following documents:

• Main text

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: 2988+1G>A

PubMed Link: 34842611

Variant Present in the following documents:

• Main text
• IJNS-07-00073.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: rs75096551

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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The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology

da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S

Publication Date: 2021

Variant appearance in text: rs75096551

PubMed Link: 34721006

Variant Present in the following documents:

• datasheet1.pdf

View BVdb publication page

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Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.

Human Genetics

Zhou, Yitian Y; Lauschke, Volker M VM

Publication Date: 2022-06

Variant appearance in text: rs75096551

PubMed Link: 34652573

Variant Present in the following documents:

• 439_2021_2385_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis.

Qatar Medical Journal

AbdulWahab, Atqah A; AlNaimi, Amal A; Habra, Basel B; Janahi, Ibrahim I

Publication Date: 2021

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 34377682

Variant Present in the following documents:

• Main text

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: 2988+1G>A

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: 2988+1G>A

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

View BVdb publication page

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Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Archives Of Disease In Childhood

Dai, Dan D; Mei, Mei M; Hu, Liyuan L; Cao, Yun Y; Wang, Xiaochuan X; Wang, Libo L; Lu, Yulan Y; Yang, Lin L; Dong, Xinran X; Wang, Huijun H; Wu, Bingbing B; Qian, Liling L

Publication Date: 2022-02

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 34134972

Variant Present in the following documents:

• archdischild-2021-322058supp001.pdf

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: 2988+1G>A; rs75096551

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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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: 2988+1G>A; rs75096551

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: 2988+1G>A; rs75096551

PubMed Link: 33613790

Variant Present in the following documents:

• Main text
• DM2021-9812074.pdf

View BVdb publication page

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High-depth African genomes inform human migration and health.

Nature

Choudhury, Ananyo A; Aron, Shaun S; Botigué, Laura R LR; Sengupta, Dhriti D; Botha, Gerrit G; Bensellak, Taoufik T; Wells, Gordon G; Kumuthini, Judit J; Shriner, Daniel D; Fakim, Yasmina J YJ; Ghoorah, Anisah W AW; Dareng, Eileen E; Odia, Trust T; Falola, Oluwadamilare O; Adebiyi, Ezekiel E; Hazelhurst, Scott S; Mazandu, Gaston G; Nyangiri, Oscar A OA; Mbiyavanga, Mamana M; Benkahla, Alia A; Kassim, Samar K SK; Mulder, Nicola N; Adebamowo, Sally N SN; Chimusa, Emile R ER; Muzny, Donna D; Metcalf, Ginger G; Gibbs, Richard A RA; , ; Rotimi, Charles C; Ramsay, Michèle M; , ; Adeyemo, Adebowale A AA; Lombard, Zané Z; Hanchard, Neil A NA

Publication Date: 2020-10

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 33116287

Variant Present in the following documents:

• 41586_2020_2859_MOESM3_ESM.xlsx, sheet 21

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: 2988+1G>A

PubMed Link: 33085659

Variant Present in the following documents:

• Main text
• pgen.1009100.pdf

View BVdb publication page

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Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility.

Annals Of Saudi Medicine

AlMaghamsi, Talal T; Iqbal, Naeem N; Al-Esaei, Nabil Abdullrahman NA; Mohammed, Muhsina M; Eddin, Kamel Zein KZ; Ghurab, Fatima F; Moghrabi, Nabil N; Heaphy, Emily E; Junaid, Islam I

Publication Date: 2020

Variant appearance in text: CFTR: 2988+1G>A; rs75096551

PubMed Link: 32757986

Variant Present in the following documents:

• Main text
• 0256-4947.2020.321.pdf

View BVdb publication page

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Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.

Biomed Research International

Paz-Y-Miño, César C; Zambrano, Ana Karina AK; Ruiz-Cabezas, Juan Carlos JC; Armendáriz-Castillo, Isaac I; García-Cárdenas, Jennyfer M JM; Guerrero, Santiago S; López-Cortés, Andrés A; Pérez-Villa, Andy A; Guevara-Ramírez, Patricia P; Yumiceba, Verónica V; Leone, Paola E PE

Publication Date: 2020

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 32596391

Variant Present in the following documents:

• Main text

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: 2988+1G>A

PubMed Link: 32514487

Variant Present in the following documents:

• Main text
• IJNS-06-00036.pdf

View BVdb publication page

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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: 2988+1G>A

PubMed Link: 32429104

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

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

Westemeyer, Maggie M; Saucier, Jennifer J; Wallace, Jody J; Prins, Sarah A SA; Shetty, Aparna A; Malhotra, Meenakshi M; Demko, Zachary P ZP; Eng, Christine M CM; Weckstein, Louis L; Boostanfar, Robert R; Rabinowitz, Matthew M; Benn, Peter P; Keen-Kim, Dianne D; Billings, Paul P

Publication Date: 2020-08

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 32366966

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: 2988+1G>A

PubMed Link: 32288518

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Annals Of Saudi Medicine

Banjar, Hanaa Hasan HH; Tuleimat, Lin L; El Seoudi, Abdul Aziz Agha AAA; Mogarri, Ibrahim I; Alhaider, Sami S; Nizami, Imran Yaqoob IY; AlMaghamsi, Talal T; Alkaf, Sara Andulrahman SA; Moghrabi, Nabil N

Publication Date: 2020

Variant appearance in text: CFTR: 2988+1G>A; rs75096551

PubMed Link: 32026723

Variant Present in the following documents:

• Main text

View BVdb publication page

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Plasma microRNA levels in male and female children with cystic fibrosis.

Scientific Reports

Mooney, C C; McKiernan, P J PJ; Raoof, R R; Henshall, D C DC; Linnane, B B; McNally, P P; Glasgow, A M A AMA; Greene, C M CM

Publication Date: 2020-01-24

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 31980676

Variant Present in the following documents:

• 41598_2020_Article_57964.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: CFTR: 2988+1G>A; rs75096551

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

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: 2988+1G>A; rs75096551

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.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: 2988+1G>A

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: rs75096551

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: rs75096551

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

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: rs75096551

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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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: 2988+1G>A; rs75096551

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Assessing risk for Mendelian disorders in a Bronx population.

Molecular Genetics & Genomic Medicine

diSibio, Guy G; Upadhyay, Kinnari K; Meyer, Philip P; Oddoux, Carole C; Ostrer, Harry H

Publication Date: 2017-09

Variant appearance in text: CFTR: 2988+1G>A; rs75096551

PubMed Link: 28944235

Variant Present in the following documents:

• MGG3-5-516-s001.xlsx, sheet 2
• MGG3-5-516.pdf

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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: 2988+1G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Molecular Genetics & Genomic Medicine

Behar, Doron M DM; Inbar, Ori O; Shteinberg, Michal M; Gur, Michal M; Mussaffi, Huda H; Shoseyov, David D; Ashkenazi, Moshe M; Alkrinawi, Soliman S; Bormans, Concetta C; Hakim, Fahed F; Mei-Zahav, Meir M; Cohen-Cymberknoh, Malena M; Dagan, Adi A; Prais, Dario D; Sarouk, Ifat I; Stafler, Patrick P; Bar Aluma, Bat El BE; Akler, Gidon G; Picard, Elie E; Aviram, Micha M; Efrati, Ori O; Livnat, Galit G; Rivlin, Joseph J; Bentur, Lea L; Blau, Hannah H; Kerem, Eitan E; Singer, Amihood A

Publication Date: 2017-05

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 28546993

Variant Present in the following documents:

• Main text

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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: 2988+1G>A

PubMed Link: 27022295

Variant Present in the following documents:

• Main text

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Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Molecular Genetics & Genomic Medicine

Trujillano, Daniel D; Weiss, Maximilian E R ME; Köster, Julia J; Papachristos, Efstathios B EB; Werber, Martin M; Kandaswamy, Krishna Kumar KK; Marais, Anett A; Eichler, Sabrina S; Creed, Jenny J; Baysal, Erol E; Jaber, Iqbal Yousuf IY; Mehaney, Dina Ahmed DA; Farra, Chantal C; Rolfs, Arndt A

Publication Date: 2015-09

Variant appearance in text: CFTR: 2988+1G>A; rs75096551

PubMed Link: 26436105

Variant Present in the following documents:

• Main text

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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: 2988+1G>A

PubMed Link: 26014425

Variant Present in the following documents:

• Main text

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Arab gene geography: From population diversities to personalized medical genomics.

Global Cardiology Science & Practice

Tadmouri, Ghazi O GO; Sastry, Konduru S KS; Chouchane, Lotfi L

Publication Date: 2014

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 25780794

Variant Present in the following documents:

• Main text

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Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.

Human Mutation

Sharma, Neeraj N; Sosnay, Patrick R PR; Ramalho, Anabela S AS; Douville, Christopher C; Franca, Arianna A; Gottschalk, Laura B LB; Park, Jeenah J; Lee, Melissa M; Vecchio-Pagan, Briana B; Raraigh, Karen S KS; Amaral, Margarida D MD; Karchin, Rachel R; Cutting, Garry R GR

Publication Date: 2014-10

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 25066652

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: 2988+1G>A

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: rs75096551

PubMed Link: 23974870

Variant Present in the following documents:

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

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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: 2988+1G>A

PubMed Link: 23775370

Variant Present in the following documents:

• Main text

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High-throughput carrier screening using TaqMan allelic discrimination.

Plos One

Fedick, Anastasia A; Su, Jing J; Jalas, Chaim C; Northrop, Lesley L; Devkota, Batsal B; Ekstein, Josef J; Treff, Nathan R NR

Publication Date: 2013

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 23555759

Variant Present in the following documents:

• Main text

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Assessing the Disease-Liability of Mutations in CFTR.

Cold Spring Harbor Perspectives In Medicine

Ferec, Claude C; Cutting, Garry R GR

Publication Date: 2012-12-01

Variant appearance in text:

PubMed Link: 23209179

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: 2988+1G>A

PubMed Link: 23150080

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: 2988+1G>A

PubMed Link: 21514289

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: 2988+1G>A

PubMed Link: 20672374

Variant Present in the following documents:

• Main text

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WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient.

The Journal Of Molecular Diagnostics : Jmd

des Georges, Marie M; Guittard, Caroline C; Templin, Carine C; Altiéri, Jean-Pierre JP; de Carvalho, Candice C; Ramsay, Michele M; Claustres, Mireille M

Publication Date: 2008-11

Variant appearance in text: CFTR: 2988+1G>A

PubMed Link: 18832460

Variant Present in the following documents:

• Main text

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