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New Search Author/Creator Watson, Michael Journal Human mutation
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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. Cover Image, Volume 39, Issue 11. Issue 11 (11th October 2018)

Authors:
Zastrow, Diane B.; Baudet, Heather; Shen, Wei; Thomas, Amanda; Si, Yue; Weaver, Meredith A.; Lager, Angela M.; Liu, Jixia; Mangels, Rachel; Dwight, Selina S.; Wright, Matt W.; Dobrowolski, Steven F.; Eilbeck, Karen; Enns, Gregory M.; Feigenbaum, Annette; Lichter‐Konecki, Uta; Lyon, Elaine; Pasqua...
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:
i
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms)

4. Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Issue 11 (11th October 2018)

Authors:
Zastrow, Diane B.; Baudet, Heather; Shen, Wei; Thomas, Amanda; Si, Yue; Weaver, Meredith A.; Lager, Angela M.; Liu, Jixia; Mangels, Rachel; Dwight, Selina S.; Wright, Matt W.; Dobrowolski, Steven F.; Eilbeck, Karen; Enns, Gregory M.; Feigenbaum, Annette; Lichter‐Konecki, Uta; Lyon, Elaine; Pasqua...
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:
1569
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms)

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