Literature DB >> 26223180

Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.

Yskert von Kodolitsch1, Kerstin Kutsche2.   

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Year:  2015        PMID： 26223180     DOI： 10.1038/jhg.2015.95

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  2 in total

1.  Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.

Authors:  Linnea M Baudhuin; Katrina E Kotzer; Susan A Lagerstedt
Journal:  J Hum Genet       Date:  2015-02-05       Impact factor: 3.172

2.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822
  2 in total
  2 in total

1.  Genetic diagnostics of inherited aortic diseases : Medical strategy analysis.

Authors:  Y von Kodolitsch; K Kutsche
Journal:  Herz       Date:  2017-08       Impact factor: 1.443

2.  Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.

Authors:  Kristian A Groth; Yskert Von Kodolitsch; Kerstin Kutsche; Mette Gaustadnes; Kasper Thorsen; Niels H Andersen; Claus H Gravholt
Journal:  Genet Med       Date:  2016-12-01       Impact factor: 8.822
  2 in total

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