Literature DB >> 29261181

Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening.

Aarti Ramdaney1, Diane M Dunn2, Robert B Weiss2, Nancy C Rose3.   

Abstract

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Year:  2017        PMID： 29261181     DOI： 10.1038/gim.2017.174

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


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  3 in total

1.  Evidence-based path to newborn screening for Duchenne muscular dystrophy.

Authors:  Jerry R Mendell; Chris Shilling; Nancy D Leslie; Kevin M Flanigan; Roula al-Dahhak; Julie Gastier-Foster; Kelley Kneile; Diane M Dunn; Brett Duval; Alexander Aoyagi; Cindy Hamil; Maha Mahmoud; Kandice Roush; Lauren Bird; Chelsea Rankin; Heather Lilly; Natalie Street; Ram Chandrasekar; Robert B Weiss
Journal:  Ann Neurol       Date:  2012-03       Impact factor: 10.422

2.  The ZZ domain of dystrophin in DMD: making sense of missense mutations.

Authors:  Adeline Vulin; Nicolas Wein; Dana M Strandjord; Eric K Johnson; Andrew R Findlay; Baijayanta Maiti; Michael T Howard; Yuuki J Kaminoh; Laura E Taylor; Tabatha R Simmons; Will C Ray; Federica Montanaro; Jim M Ervasti; Kevin M Flanigan
Journal:  Hum Mutat       Date:  2013-12-02       Impact factor: 4.878

3.  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
  3 in total
  1 in total

1.  Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty.

Authors:  Karen E Weck
Journal:  Genet Med       Date:  2018-02-01       Impact factor: 8.822
  1 in total

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