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Author/Creator Milko, Laura V.

1. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation. Issue 11 (11th October 2018)

Authors:
Rivera‐Muñoz, Edgar A.; Milko, Laura V.; Harrison, Steven M.; Azzariti, Danielle R.; Kurtz, C. Lisa; Lee, Kristy; Mester, Jessica L.; Weaver, Meredith A.; Currey, Erin; Craigen, William; Eng, Charis; Funke, Birgit; Hegde, Madhuri; Hershberger, Ray E.; Mao, Rong; Steiner, Robert D.; Vincent, Lisa ...
Other Names:
Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor.
Journal:
Human mutation
Issue:
Volume 39:Issue 11(2018)
Page Start:
1614
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders. (February 2018)

Authors:
Haskell, Gloria T.; Adams, Michael C.; Fan, Zheng; Amin, Krunal; Guzman Badillo, Roberto J.; Zhou, Linran; Bizon, Christopher; Chahin, Nizar; Greenwood, Robert S.; Milko, Laura V.; Shiloh-Malawsky, Yael; Crooks, Kristy R.; Strande, Natasha; Tennison, Michael; Tilley, Christian R.; Brandt, Alicia;...
Journal:
Neurology
Issue:
Volume 4:Number 1(2018)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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