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Author/Creator Harrison, Steven M.

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) ↗

6. Harmonizing variant classification for return of results in the All of Us Research Program. Issue 8 (28th December 2021)

Authors:
Harrison, Steven M.; Austin‐Tse, Christina A.; Kim, Serra; Lebo, Matthew; Leon, Annette; Murdock, David; Radhakrishnan, Aparna; Shirts, Brian H.; Steeves, Marcie; Venner, Eric; Gibbs, Richard A.; Jarvik, Gail P.; Rehm, Heidi L.
Other Names:
Laner Andreas guestEditor.; Maver Ales guestEditor.; den Dunnen Johan T. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 8(2022)
Page Start:
1114
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines. (8th August 2019)

Authors:
Harrison, Steven M.; Biesecker, Leslie G.; Rehm, Heidi L.
Editors:
Dracopoli, Nicholas C.; Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R.
Journal:
Current protocols in human genetics
Issue:
Volume 103(2019)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Issue 11 (7th September 2018)

Authors:
Abou Tayoun, Ahmad N.; Pesaran, Tina; DiStefano, Marina T.; Oza, Andrea; Rehm, Heidi L.; Biesecker, Leslie G.; Harrison, Steven M.
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:
1517
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Issue 11 (11th October 2018)

Authors:
Harrison, Steven M.; Dolinksy, Jill S.; Chen, Wenjie; Collins, Christin D.; Das, Soma; Deignan, Joshua L.; Garber, Kathryn B.; Garcia, John; Jarinova, Olga; Knight Johnson, Amy E.; Koskenvuo, Juha W.; Lee, Hane; Mao, Rong; Mar‐Heyming, Rebecca; McFaddin, Andrew S.; Moyer, Krista; Nagan, Narasimha...
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:
1641
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Screening and familial characterization of copy‐number variations in NR5A1 in 46, XY disorders of sex development and premature ovarian failure. Issue 10 (5th August 2013)

Authors:
Harrison, Steven M.; Campbell, Ian M.; Keays, Melise; Granberg, Candace F.; Villanueva, Carlos; Tannin, Grace; Zinn, Andrew R.; Castrillon, Diego H.; Shaw, Chad A.; Stankiewicz, Pawel; Baker, Linda A.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 10(2013:Oct.)
Page Start:
2487
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗