Literature DB >> 18007142

The Cystic Fibrosis mutation "arms race": when less is more.

Wayne W Grody1, Garry R Cutting, Michael S Watson.   

Abstract

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Year:  2007        PMID： 18007142     DOI： 10.1097/gim.0b013e318159a331

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


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  17 in total

1.  The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

Authors:  Daniel H Farkas; Nicholas E Miltgen; Jay Stoerker; Dirk van den Boom; W Edward Highsmith; Lesley Cagasan; Ron McCullough; Reinhold Mueller; Lin Tang; John Tynan; Courtney Tate; Allan Bombard
Journal:  J Mol Diagn       Date:  2010-07-08       Impact factor: 5.568

2.  Development of genomic reference materials for cystic fibrosis genetic testing.

Authors:  Victoria M Pratt; Michele Caggana; Christina Bridges; Arlene M Buller; Lisa DiAntonio; W Edward Highsmith; Leonard M Holtegaard; Kasinathan Muralidharan; Elizabeth M Rohlfs; Jack Tarleton; Lorraine Toji; Shannon D Barker; Lisa V Kalman
Journal:  J Mol Diagn       Date:  2009-04-09       Impact factor: 5.568

3.  Cystic fibrosis testing comes of age.

Authors:  Wayne W Grody
Journal:  J Mol Diagn       Date:  2009-04-09       Impact factor: 5.568

4.  Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.

Authors:  Elinor Langfelder-Schwind; Barbara Karczeski; Michelle N Strecker; Joy Redman; Elaine A Sugarman; Christina Zaleski; Trisha Brown; Steven Keiles; Amy Powers; Sumheda Ghate; Rebecca Darrah
Journal:  J Genet Couns       Date:  2013-09-07       Impact factor: 2.537

Review 5.  Cystic fibrosis genetics: from molecular understanding to clinical application.

Authors:  Garry R Cutting
Journal:  Nat Rev Genet       Date:  2014-11-18       Impact factor: 53.242

6.  Annotating DNA variants is the next major goal for human genetics.

Authors:  Garry R Cutting
Journal:  Am J Hum Genet       Date:  2014-01-02       Impact factor: 11.025

7.  Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening.

Authors:  Mei W Baker; Molly Groose; Gary Hoffman; Michael Rock; Hara Levy; Philip M Farrell
Journal:  J Cyst Fibros       Date:  2011-03-08       Impact factor: 5.482

Review 8.  Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors:  C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal:  J Cyst Fibros       Date:  2008-05       Impact factor: 5.482

9.  Patient physical characteristics and primary care physician decision making in preconception genetic screening.

Authors:  V L Bonham; S Knerr; W G Feero; N Stevens; J F Jenkins; C M McBride
Journal:  Public Health Genomics       Date:  2009-11-26       Impact factor: 2.000

10.  Disparities in Mortality of Hispanic Patients with Cystic Fibrosis in the United States. A National and Regional Cohort Study.

Authors:  Jason Rho; Chul Ahn; Ang Gao; Gregory S Sawicki; Ashley Keller; Raksha Jain
Journal:  Am J Respir Crit Care Med       Date:  2018-10-15       Impact factor: 21.405
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