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Author/Creator Topper, Scott

2. Stewardship of Patient Genomic Data: A Policy Statement of the American College of Medical Genetics and Genomics (ACMG). Issue 9 (September 2022)

Authors:
Best, Robert G.; Khushf, George; Rabin-Havt, Sara Schonfeld; Clayton, Ellen Wright; Grebe, Theresa A.; Hagenkord, Jill; Topper, Scott; Fivecoat, Jaime; Chen, Margaret; Grody, Wayne W.
Journal:
Obstetrical & gynecological survey
Issue:
Volume 77:Issue 9(2022)
Page Start:
517
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. Issue 9 (23rd August 2019)

Authors:
Cline, Melissa S.; Babbi, Giulia; Bonache, Sandra; Cao, Yue; Casadio, Rita; de la Cruz, Xavier; Díez, Orland; Gutiérrez‐Enríquez, Sara; Katsonis, Panagiotis; Lai, Carmen; Lichtarge, Olivier; Martelli, Pier L.; Mishne, Gilad; Moles‐Fernández, Alejandro; Montalban, Gemma; Mooney, Sean D.; O'Conner,...
Editors:
Moult, John; Brenner, Steven E.
Other Names:
Karchin Rachel guestEditor.; Pal Lipika R. specialEditor.
Journal:
Human mutation
Issue:
Volume 40:Issue 9(2019)
Page Start:
1546
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. 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) ↗