Publications:

---

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: 3310G>T; Glu1104Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: CFTR: 3310G>T; E1104*; rs397508538

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease

Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2022-04-22

Variant appearance in text: CFTR: E1104*

PubMed Link: 35459861

Variant Present in the following documents:

• 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

---

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved.

Genes

Mezzi, Nessrine N; Messaoud, Olfa O; Mkaouar, Rahma R; Zitouna, Nadia N; Romdhane, Safa S; Abdessalem, Ghaith G; Charfeddine, Cherine C; Maazoul, Faouzi F; Ouerteni, Ines I; Hamdi, Yosr Y; Zaouak, Anissa A; Mrad, Ridha R; Abdelhak, Sonia S; Romdhane, Lilia L

Publication Date: 2021-11-19

Variant appearance in text: CFTR: E1104X

PubMed Link: 34828426

Variant Present in the following documents:

• Main text
• genes-12-01820.pdf

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: rs397508538

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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: CFTR: E1104*

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 6

View BVdb publication page

---

Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)

Michorowska, Sylwia S

Publication Date: 2021-08-09

Variant appearance in text: CFTR: E1104X

PubMed Link: 34451881

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00785.pdf

View BVdb publication page

---

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

Genes

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

Publication Date: 2021-04-29

Variant appearance in text: CFTR: Glu1104*

PubMed Link: 33946859

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.

African Health Sciences

Hamouda, Samia S; Fredj, Sondess Hadj SH; Hilioui, Sonia S; Khalsi, Fatma F; Ameur, Salma Ben SB; Bouguila, Jihene J; Boussoffara, Raoudha R; Besbes, Habib H; Ajmi, Houda H; Mattoussi, Nadia N; Messaoud, Taieb T; Mehrezi, Ahmed A; Hachicha, Mongia M; Boughamoura, Lamia L; Sfar, Mohamed Taher MT; Gueddiche, Neji N; Abroug, Saoussen S; Becheur, Saida Ben SB; Barsaoui, Sihem S; Tebib, Neji N; Samoud, Azza A; Gandoura, Najoua N; Tinsa, Faten F; Boussetta, Khadija K

Publication Date: 2020-03

Variant appearance in text: CFTR: E1104X

PubMed Link: 33402933

Variant Present in the following documents:

• Main text
• AFHS2001-0444.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: 3310G>T; E1104*; rs397508538

PubMed Link: 32971794

Variant Present in the following documents:

• jpm-10-00140-s001.pdf

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: CFTR: E1104*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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: 3310G>T; E1104X

PubMed Link: 32512765

Variant Present in the following documents:

• Main text
• genes-11-00619.pdf

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: 3310G>T; E1104X

PubMed Link: 31036917

Variant Present in the following documents:

• 41436_2019_525_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Cystic fibrosis in Tunisian children: a review of 32 children.

African Health Sciences

Boussetta, Khedija K; Khalsi, Fatma F; Bahri, Yasmine Y; Belhadj, Imen I; Tinsa, Faten F; Messaoud, Taieb Ben TB; Hamouda, Samia S

Publication Date: 2018-09

Variant appearance in text: CFTR: E1104X

PubMed Link: 30602999

Variant Present in the following documents:

• Main text
• AFHS1803-0664.pdf

View BVdb publication page

---

Genetics and genomic medicine in Tunisia.

Molecular Genetics & Genomic Medicine

Elloumi-Zghal, Houda H; Chaabouni Bouhamed, Habiba H

Publication Date: 2018-03

Variant appearance in text: CFTR: E1104X

PubMed Link: 29663716

Variant Present in the following documents:

• Main text
• MGG3-6-134.pdf

View BVdb publication page

---

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Erj Open Research

Pranke, Iwona I; Bidou, Laure L; Martin, Natacha N; Blanchet, Sandra S; Hatton, Aurélie A; Karri, Sabrina S; Cornu, David D; Costes, Bruno B; Chevalier, Benoit B; Tondelier, Danielle D; Girodon, Emmanuelle E; Coupet, Matthieu M; Edelman, Aleksander A; Fanen, Pascale P; Namy, Olivier O; Sermet-Gaudelus, Isabelle I; Hinzpeter, Alexandre A

Publication Date: 2018-01

Variant appearance in text: CFTR: Glu1104*

PubMed Link: 29497617

Variant Present in the following documents:

• Main text
• 00080-2017_supp.pdf
• 00080-2017.pdf

View BVdb publication page

---

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: 3310G>T; Glu1104X

PubMed Link: 29216686

Variant Present in the following documents:

• Main text

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: 3310G>T; Glu1104Ter; rs397508538

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.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: E1104X

PubMed Link: 27656143

Variant Present in the following documents:

• Main text
• fphar-07-00275.pdf

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: CFTR: 3310G>T; E1104*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

---

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: 3310G>T; E1104X

PubMed Link: 26014425

Variant Present in the following documents:

• Main text
• ejhg201599a.pdf

View BVdb publication page

---

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

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

Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM

Publication Date: 2016-03

Variant appearance in text: CFTR: 3310G>T; E1104X

PubMed Link: 25674778

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Defining a mutational panel and predicting the prevalence of cystic fibrosis in oman.

Sultan Qaboos University Medical Journal

Fass, Uwe W UW; Al-Salmani, Majid M; Bendahhou, Said S; Shivalingam, Ganji G; Norrish, Catherine C; Hebal, Kallesh K; Clark, Fiona F; Heming, Thomas T; Al-Khusaiby, Saleh S

Publication Date: 2014-08

Variant appearance in text: CFTR: E1104X

PubMed Link: 25097766

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 3310G>T; E1104X

PubMed Link: 23974870

Variant Present in the following documents:

• NIHMS512446-supplement-12.xlsx, sheet 1

View BVdb publication page

---

Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

Respiratory Research

Green, Deanna M DM; McDougal, Kathryn E KE; Blackman, Scott M SM; Sosnay, Patrick R PR; Henderson, Lindsay B LB; Naughton, Kathleen M KM; Collaco, J Michael JM; Cutting, Garry R GR

Publication Date: 2010-10-08

Variant appearance in text: CFTR: E1104X

PubMed Link: 20932301

Variant Present in the following documents:

• Main text
• 1465-9921-11-140.pdf

View BVdb publication page

---

Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

The Journal Of Molecular Diagnostics : Jmd

Audrezet, Marie-Pierre MP; Dabricot, Aurélia A; Le Marechal, Cédric C; Ferec, Claude C

Publication Date: 2008-09

Variant appearance in text: CFTR: E1104X

PubMed Link: 18687795

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.

Gut

Ahmed, N N; Corey, M M; Forstner, G G; Zielenski, J J; Tsui, L-C LC; Ellis, L L; Tullis, E E; Durie, P P

Publication Date: 2003-08

Variant appearance in text: CFTR: E1104X

PubMed Link: 12865275

Variant Present in the following documents:

• Main text

View BVdb publication page

---