Literature DB >> 26513347

Bias in CFTR screening panels.

Patrick R Sosnay1, Carlo Castellani2, Christopher M Penland3, Johanna M Rommens4, Michelle Lewis1, Karen S Raraigh1, Mary Corey5, Garry R Cutting1.   

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Year:  2015        PMID： 26513347      PMCID： PMC4816068          DOI： 10.1038/gim.2015.105

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  4 in total

1.  ClinGen--the Clinical Genome Resource.

Authors:  Heidi L Rehm; Jonathan S Berg; Lisa D Brooks; Carlos D Bustamante; James P Evans; Melissa J Landrum; David H Ledbetter; Donna R Maglott; Christa Lese Martin; Robert L Nussbaum; Sharon E Plon; Erin M Ramos; Stephen T Sherry; Michael S Watson
Journal:  N Engl J Med       Date:  2015-05-27       Impact factor: 91.245

2.  Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Authors:  R Dorfman; T Nalpathamkalam; C Taylor; T Gonska; K Keenan; X W Yuan; M Corey; L-C Tsui; J Zielenski; P Durie
Journal:  Clin Genet       Date:  2009-01-06       Impact factor: 4.438

3.  Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk.

Authors:  Regine M Lim; Ari J Silver; Maxwell J Silver; Carlos Borroto; Brett Spurrier; Tanya C Petrossian; Jessica L Larson; Lee M Silver
Journal:  Genet Med       Date:  2015-04-16       Impact factor: 8.822

4.  ACMG position statement on prenatal/preconception expanded carrier screening.

Authors:  Wayne W Grody; Barry H Thompson; Anthony R Gregg; Lora H Bean; Kristin G Monaghan; Adele Schneider; Roger V Lebo
Journal:  Genet Med       Date:  2013-04-25       Impact factor: 8.822
  4 in total
  2 in total

Review 1.  The future of cystic fibrosis care: a global perspective.

Authors:  Scott C Bell; Marcus A Mall; Hector Gutierrez; Milan Macek; Susan Madge; Jane C Davies; Pierre-Régis Burgel; Elizabeth Tullis; Claudio Castaños; Carlo Castellani; Catherine A Byrnes; Fiona Cathcart; Sanjay H Chotirmall; Rebecca Cosgriff; Irmgard Eichler; Isabelle Fajac; Christopher H Goss; Pavel Drevinek; Philip M Farrell; Anna M Gravelle; Trudy Havermans; Nicole Mayer-Hamblett; Nataliya Kashirskaya; Eitan Kerem; Joseph L Mathew; Edward F McKone; Lutz Naehrlich; Samya Z Nasr; Gabriela R Oates; Ciaran O'Neill; Ulrike Pypops; Karen S Raraigh; Steven M Rowe; Kevin W Southern; Sheila Sivam; Anne L Stephenson; Marco Zampoli; Felix Ratjen
Journal:  Lancet Respir Med       Date:  2019-09-27       Impact factor: 30.700

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

Authors:  Doron M Behar; Ori Inbar; Michal Shteinberg; Michal Gur; Huda Mussaffi; David Shoseyov; Moshe Ashkenazi; Soliman Alkrinawi; Concetta Bormans; Fahed Hakim; Meir Mei-Zahav; Malena Cohen-Cymberknoh; Adi Dagan; Dario Prais; Ifat Sarouk; Patrick Stafler; Bat El Bar Aluma; Gidon Akler; Elie Picard; Micha Aviram; Ori Efrati; Galit Livnat; Joseph Rivlin; Lea Bentur; Hannah Blau; Eitan Kerem; Amihood Singer
Journal:  Mol Genet Genomic Med       Date:  2017-02-19       Impact factor: 2.183
  2 in total

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