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Author/Creator Babb, Larry

1. ClinGen Allele Registry links information about genetic variants. Issue 11 (11th October 2018)

Authors:
Pawliczek, Piotr; Patel, Ronak Y.; Ashmore, Lillian R.; Jackson, Andrew R.; Bizon, Chris; Nelson, Tristan; Powell, Bradford; Freimuth, Robert R.; Strande, Natasha; Shah, Neethu; Paithankar, Sameer; Wright, Matt W.; Dwight, Selina; Zhen, Jimmy; Landrum, Melissa; McGarvey, Peter; Babb, Larry; Plon,...
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:
1690
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. Issue 1 (December 2017)

Authors:
Patel, Ronak; Shah, Neethu; Jackson, Andrew; Ghosh, Rajarshi; Pawliczek, Piotr; Paithankar, Sameer; Baker, Aaron; Riehle, Kevin; Chen, Hailin; Milosavljevic, Sofia; Bizon, Chris; Rynearson, Shawn; Nelson, Tristan; Jarvik, Gail; Rehm, Heidi; Harrison, Steven; Azzariti, Danielle; Powell, Bradford; ...
Journal:
Genome medicine
Issue:
Volume 9:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species. Issue Volume 48:Issue D1(2020) (8th November 2019)

Authors:
Shefchek, Kent A; Harris, Nomi L; Gargano, Michael; Matentzoglu, Nicolas; Unni, Deepak; Brush, Matthew; Keith, Daniel; Conlin, Tom; Vasilevsky, Nicole; Zhang, Xingmin Aaron; Balhoff, James P; Babb, Larry; Bello, Susan M; Blau, Hannah; Bradford, Yvonne; Carbon, Seth; Carmody, Leigh; Chan, Lauren E...
Journal:
Nucleic acids research
Issue:
Volume 48:Issue D1(2020)
Page Start:
D704
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species. Issue Volume 48:Issue D1(2020) (8th November 2019)

Authors:
Shefchek, Kent A; Harris, Nomi L; Gargano, Michael; Matentzoglu, Nicolas; Unni, Deepak; Brush, Matthew; Keith, Daniel; Conlin, Tom; Vasilevsky, Nicole; Zhang, Xingmin Aaron; Balhoff, James P; Babb, Larry; Bello, Susan M; Blau, Hannah; Bradford, Yvonne; Carbon, Seth; Carmody, Leigh; Chan, Lauren E...
Journal:
Nucleic acids research
Issue:
Volume 48:Issue D1(2020)
Page Start:
D704
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗