Literature DB >> 26030491

Reproductive genetic testing and human genetic variation in the era of genomic medicine.

Chelsea Lowther1, Gregory Costain, Anne S Bassett.   

Abstract

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Year:  2015        PMID： 26030491      PMCID： PMC4459857          DOI： 10.1080/15265161.2015.1028661

Source DB:  PubMed          Journal:  Am J Bioeth        ISSN： 1526-5161            Impact factor:   11.229


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  11 in total

Review 1.  Disability and genetics in the era of genomic medicine.

Authors:  Jackie Leach Scully
Journal:  Nat Rev Genet       Date:  2008-10       Impact factor: 53.242

2.  Imposing genetic diversity.

Authors:  Robert Sparrow
Journal:  Am J Bioeth       Date:  2015       Impact factor: 11.229

Review 3.  Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies.

Authors:  Pascale Fanen; Adeline Wohlhuter-Haddad; Alexandre Hinzpeter
Journal:  Int J Biochem Cell Biol       Date:  2014-03-12       Impact factor: 5.085

4.  Prenatal-screening companies expand scope of DNA tests.

Authors:  Erika Check Hayden
Journal:  Nature       Date:  2014-03-06       Impact factor: 49.962

5.  Parental expression is overvalued in the interpretation of rare inherited variants.

Authors:  Gregory Costain
Journal:  Eur J Hum Genet       Date:  2014-04-23       Impact factor: 4.246

Review 6.  Detection and characterization of copy number variation in autism spectrum disorder.

Authors:  Christian R Marshall; Stephen W Scherer
Journal:  Methods Mol Biol       Date:  2012

Review 7.  Epistasis and quantitative traits: using model organisms to study gene-gene interactions.

Authors:  Trudy F C Mackay
Journal:  Nat Rev Genet       Date:  2013-12-03       Impact factor: 53.242

Review 8.  Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.

Authors:  Chelsea Lowther; Gregory Costain; Dimitri J Stavropoulos; Rebecca Melvin; Candice K Silversides; Danielle M Andrade; Joyce So; Hanna Faghfoury; Anath C Lionel; Christian R Marshall; Stephen W Scherer; Anne S Bassett
Journal:  Genet Med       Date:  2014-07-31       Impact factor: 8.822

9.  Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.

Authors:  Melissa Hill; Philip Twiss; Talitha I Verhoef; Suzanne Drury; Fiona McKay; Sarah Mason; Lucy Jenkins; Stephen Morris; Lyn S Chitty
Journal:  Prenat Diagn       Date:  2015-04-05       Impact factor: 3.050

10.  Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Authors:  Patrick R Sosnay; Karen R Siklosi; Fredrick Van Goor; Kyle Kaniecki; Haihui Yu; Neeraj Sharma; Anabela S Ramalho; Margarida D Amaral; Ruslan Dorfman; Julian Zielenski; David L Masica; Rachel Karchin; Linda Millen; Philip J Thomas; George P Patrinos; Mary Corey; Michelle H Lewis; Johanna M Rommens; Carlo Castellani; Christopher M Penland; Garry R Cutting
Journal:  Nat Genet       Date:  2013-08-25       Impact factor: 38.330
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  1 in total

1.  "Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results.

Authors:  Sarah A Walser; Allison Werner-Lin; Amita Russell; Ronald J Wapner; Barbara A Bernhardt
Journal:  J Genet Couns       Date:  2016-03-04       Impact factor: 2.537
  1 in total

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