Literature DB >> 32017858

Whole-Gene Sequencing of CFTR Reveals a High Prevalence of the Intronic Variant c.3874-4522A>G in Cystic Fibrosis.

Deborah J Morris-Rosendahl1,2, Matthew Edwards1, Melissa J McDonnell1, Shibu John1, Eric W F W Alton2, Jane C Davies1,2, Nicholas J Simmonds1,2.   

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Year:  2020        PMID： 32017858     DOI： 10.1164/rccm.201908-1541LE

Source DB:  PubMed          Journal:  Am J Respir Crit Care Med        ISSN： 1073-449X            Impact factor:   21.405


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  5 in total

1.  Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Authors:  Jamie M Ellingford; Joo Wook Ahn; Diana Baralle; Sian Ellard; David R FitzPatrick; William G Newman; Jenny C Taylor; Steven M Harrison; Nicola Whiffin; Richard D Bagnall; Stephanie Barton; Chris Campbell; Kate Downes; Celia Duff-Farrier; John M Greally; Jodie Ingles; Neesha Krishnan; Jenny Lord; Hilary C Martin; Anne O'Donnell-Luria; Simon C Ramsden; Heidi L Rehm; Ebony Richardson; Moriel Singer-Berk; Maggie Williams; Jordan C Wood; Caroline F Wright
Journal:  Genome Med       Date:  2022-07-19       Impact factor: 15.266

2.  Update in Pediatrics 2020.

Authors:  Erick Forno; Steven H Abman; Jagdev Singh; Mary E Robbins; Hiran Selvadurai; Paul T Schumacker; Paul D Robinson
Journal:  Am J Respir Crit Care Med       Date:  2021-08-01       Impact factor: 30.528

3.  Real-World Long-Term Ivacaftor for Cystic Fibrosis in France: Clinical Effectiveness and Healthcare Resource Utilization.

Authors:  Dominique Hubert; Christophe Marguet; Jacques Benichou; Cynthia DeSouza; Catherine Payen-Champenois; Nils Kinnman; Keval Chandarana; Anne Munck; Isabelle Fajac
Journal:  Pulm Ther       Date:  2021-06-08

Review 4.  Splicing mutations in the CFTR gene as therapeutic targets.

Authors:  Karine Deletang; Magali Taulan-Cadars
Journal:  Gene Ther       Date:  2022-06-02       Impact factor: 4.184

Review 5.  Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review).

Authors:  Xiangrong Cui; Xueqing Wu; Qiang Li; Xuan Jing
Journal:  Mol Med Rep       Date:  2020-08-24       Impact factor: 2.952
  5 in total

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