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Author/Creator Cushman, Brandon J.

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. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Issue 11 (11th October 2018)

Authors:
Oza, Andrea M.; DiStefano, Marina T.; Hemphill, Sarah E.; Cushman, Brandon J.; Grant, Andrew R.; Siegert, Rebecca K.; Shen, Jun; Chapin, Alex; Boczek, Nicole J.; Schimmenti, Lisa A.; Murry, Jaclyn B.; Hasadsri, Linda; Nara, Kiyomitsu; Kenna, Margaret; Booth, Kevin T.; Azaiez, Hela; Griffith, Andr...
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:
1593
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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