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Human Mutation
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October 13, 2018
ClinVar at five years: Delivering on the promise
Melissa J Landrum, Brandi L Kattman
Clinical Chemistry
|
January 3, 2025
Standardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and Challenges
Laura K Conlin, Melissa J Landrum, Robert R Freimuth, et al.
Human Mutation
|
February 27, 2016
Human Variome Project Quality Assessment Criteria for Variation Databases
Mauno Vihinen, John M Hancock, Donna R Maglott, et al.
Nucleic Acids Research
|
November 16, 2013
ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa J Landrum, Jennifer M Lee, George R Riley, et al.
Cold Spring Harbor Molecular Case Studies
|
February 14, 2018
Points to consider for sharing variant-level information from clinical genetic testing with ClinVar
Danielle R Azzariti, Erin Rooney Riggs, Annie Niehaus, et al.
Current Protocols in Human Genetics
|
April 3, 2016
Using ClinVar as a Resource to Support Variant Interpretation
Steven M Harrison, Erin R Riggs, Donna R Maglott, et al.
Nucleic Acids Research
|
November 23, 2024
ClinVar: updates to support classifications of both germline and somatic variants
Melissa J Landrum, Shanmuga Chitipiralla, Kuljeet Kaur, et al.
The New England Journal of Medicine
|
May 28, 2015
ClinGen--the Clinical Genome Resource
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, et al.
Nucleic Acids Research
|
November 20, 2015
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J Landrum, Jennifer M Lee, Mark Benson, et al.
Human Mutation
|
October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharing
Juliann M Savatt, Danielle R Azzariti, W Andrew Faucett, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
Human Mutation
|
October 13, 2018
ClinVar at five years: Delivering on the promise
Melissa J Landrum, Brandi L Kattman
Clinical Chemistry
|
January 3, 2025
Standardization of Genomic Nomenclature across a Diverse Ecosystem of Stakeholders: Evolution and Challenges
Laura K Conlin, Melissa J Landrum, Robert R Freimuth, et al.
Human Mutation
|
February 27, 2016
Human Variome Project Quality Assessment Criteria for Variation Databases
Mauno Vihinen, John M Hancock, Donna R Maglott, et al.
Nucleic Acids Research
|
November 16, 2013
ClinVar: public archive of relationships among sequence variation and human phenotype
Melissa J Landrum, Jennifer M Lee, George R Riley, et al.
Cold Spring Harbor Molecular Case Studies
|
February 14, 2018
Points to consider for sharing variant-level information from clinical genetic testing with ClinVar
Danielle R Azzariti, Erin Rooney Riggs, Annie Niehaus, et al.
Current Protocols in Human Genetics
|
April 3, 2016
Using ClinVar as a Resource to Support Variant Interpretation
Steven M Harrison, Erin R Riggs, Donna R Maglott, et al.
Nucleic Acids Research
|
November 23, 2024
ClinVar: updates to support classifications of both germline and somatic variants
Melissa J Landrum, Shanmuga Chitipiralla, Kuljeet Kaur, et al.
The New England Journal of Medicine
|
May 28, 2015
ClinGen--the Clinical Genome Resource
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, et al.
Nucleic Acids Research
|
November 20, 2015
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J Landrum, Jennifer M Lee, Mark Benson, et al.
Human Mutation
|
October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharing
Juliann M Savatt, Danielle R Azzariti, W Andrew Faucett, et al.
Page
of 2