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Author/Creator Vincent, Lisa M.

1. Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. Issue 11 (11th October 2018)

Authors:
Grant, Andrew R.; Cushman, Brandon J.; Cavé, Hélène; Dillon, Mitchell W.; Gelb, Bruce D.; Gripp, Karen W.; Lee, Jennifer A.; Mason‐Suares, Heather; Rauen, Katherine A.; Tartaglia, Marco; Vincent, Lisa M.; Zenker, Martin
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:
1485
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. 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) ↗

3. Cover Image, Volume 173A, Number 9, September 2017. Issue 9 (17th August 2017)

Authors:
Kruszka, Paul; Porras, Antonio R.; Addissie, Yonit A.; Moresco, Angélica; Medrano, Sofia; Mok, Gary T. K.; Leung, Gordon K. C.; Tekendo‐Ngongang, Cedrik; Uwineza, Annette; Thong, Meow‐Keong; Muthukumarasamy, Premala; Honey, Engela; Ekure, Ekanem N.; Sokunbi, Ogochukwu J.; Kalu, Nnenna; Jones, Kel...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 9(2017)
Page Start:
i
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Noonan syndrome in diverse populations. Issue 9 (27th July 2017)

Authors:
Kruszka, Paul; Porras, Antonio R.; Addissie, Yonit A.; Moresco, Angélica; Medrano, Sofia; Mok, Gary T. K.; Leung, Gordon K. C.; Tekendo‐Ngongang, Cedrik; Uwineza, Annette; Thong, Meow‐Keong; Muthukumarasamy, Premala; Honey, Engela; Ekure, Ekanem N.; Sokunbi, Ogochukwu J.; Kalu, Nnenna; Jones, Kel...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 9(2017)
Page Start:
2323
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. 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) ↗